#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
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L	p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		48	122	0	0	0	1	0	48	122				
NUTM2F	54754	broad.mit.edu	37	9	97084489	97084489	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:97084489G>A	ENST00000253262.4	-	3	856	c.836C>T	c.(835-837)gCg>gTg	p.A279V	NUTM2F_ENST00000335456.7_Missense_Mutation_p.A279V|NUTM2F_ENST00000341207.4_Missense_Mutation_p.A279V	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	279																	TCACTTTTCCGCCATCTCGTA	0.632																																						ENST00000335456.7																			0											c.(835-837)gCg>gTg		NUT family member 2F							64.0	75.0	71.0					9																	97084489		1349	2608	3957	SO:0001583	missense	54754							g.chr9:97084489G>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.836C>T	9.37:g.97084489G>A	ENSP00000253262:p.Ala279Val					NUTM2F_ENST00000341207.4_Missense_Mutation_p.A279V|NUTM2F_ENST00000253262.4_Missense_Mutation_p.A279V	p.A279V							3	856	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.836C>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	17.22	3.334291	0.60853	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.36699	1.24;1.24;1.24	1.2	1.2	0.21068	Nuclear Testis  protein, N-terminal (1);	0.119039	0.38326	N	0.001722	T	0.51007	0.1649	M	0.74647	2.275	0.09310	N	0.999991	D	0.89917	1.0	D	0.69654	0.965	T	0.26258	-1.0108	10	0.87932	D	0	.	5.8356	0.18605	0.0:0.0:1.0:0.0	.	279	A1L443	FA22F_HUMAN	V	279	ENSP00000335067:A279V;ENSP00000253262:A279V;ENSP00000343865:A279V	ENSP00000253262:A279V	A	-	2	0	FAM22F	96124310	0.868000	0.29978	0.270000	0.24601	0.369000	0.29798	1.103000	0.31062	0.992000	0.38840	0.456000	0.33151	GCG		0.632	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		33	154	0	0	0	1	0	33	154				
RPL39L	116832	broad.mit.edu	37	3	186839066	186839066	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:186839066G>C	ENST00000296277.4	-	3	425	c.23C>G	c.(22-24)aCc>aGc	p.T8S	RPL39L_ENST00000455270.1_Missense_Mutation_p.T8S|RPL39L_ENST00000433055.1_Missense_Mutation_p.T8S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	8					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)		TCGCTTAATGGTGAAAGTCTT	0.448																																						ENST00000296277.4																			0											c.(22-24)aCc>aGc		ribosomal protein L39-like							67.0	66.0	66.0					3																	186839066		2203	4299	6502	SO:0001583	missense	116832				spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome	g.chr3:186839066G>C	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.23C>G	3.37:g.186839066G>C	ENSP00000296277:p.Thr8Ser					RPL39L_ENST00000433055.1_Missense_Mutation_p.T8S|RPL39L_ENST00000455270.1_Missense_Mutation_p.T8S	p.T8S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)	3	425	-	all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		8					Q8IUD0	Missense_Mutation	SNP	ENST00000296277.4	37	c.23C>G	CCDS3286.1	.	.	.	.	.	.	.	.	.	.	G	3.334	-0.135973	0.06711	.	.	ENSG00000163923	ENST00000455270;ENST00000296277;ENST00000433055	.	.	.	2.13	-1.05	0.10036	Ribosomal protein L39e domain (2);	0.203107	0.27739	U	0.018050	T	0.22399	0.0540	.	.	.	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.08166	-1.0735	8	0.48119	T	0.1	-0.9115	1.7879	0.03045	0.1894:0.2963:0.3795:0.1348	.	8	Q96EH5	RL39L_HUMAN	S	8	.	ENSP00000296277:T8S	T	-	2	0	RPL39L	188321760	0.988000	0.35896	0.307000	0.25127	0.580000	0.36256	0.124000	0.15728	-0.304000	0.08843	-1.239000	0.01543	ACC		0.448	RPL39L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344283.2	NM_052969		42	88	0	0	0	1	0	42	88				
OLFML2A	169611	broad.mit.edu	37	9	127549502	127549502	+	Silent	SNP	G	G	A	rs370096635		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:127549502G>A	ENST00000373580.3	+	2	339	c.339G>A	c.(337-339)gcG>gcA	p.A113A		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	113					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.A113A(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAAAGCAGGCGCCCGAGCTCC	0.572																																						ENST00000373580.3																			1	Substitution - coding silent(1)	p.A113A(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(337-339)gcG>gcA		olfactomedin-like 2A							52.0	60.0	57.0					9																	127549502		2008	4169	6177	SO:0001819	synonymous_variant	169611							g.chr9:127549502G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.339G>A	9.37:g.127549502G>A							p.A113A	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	339	+			113					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.339G>A	CCDS6857.2																																																																																				0.572	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		20	49	0	0	0	1	0	20	49				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	19	0	0	0	1	0	4	19				
MECR	51102	broad.mit.edu	37	1	29533365	29533365	+	Silent	SNP	C	C	T	rs564639950		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:29533365C>T	ENST00000263702.6	-	4	484	c.459G>A	c.(457-459)ccG>ccA	p.P153P	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Silent_p.P77P			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	153					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GGATGTCACTCGGAACTTGGA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20342	0.0		0.001	False		,,,				2504	0.0					ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(229-231)ccG>ccA		mitochondrial trans-2-enoyl-CoA reductase							143.0	115.0	125.0					1																	29533365		2203	4300	6503	SO:0001819	synonymous_variant	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29533365C>T		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.459G>A	1.37:g.29533365C>T						MECR_ENST00000263702.6_Silent_p.P153P|MECR_ENST00000489248.1_5'UTR	p.P77P	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	4	603	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	153					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Silent	SNP	ENST00000263702.6	37	c.231G>A	CCDS30659.1																																																																																				0.567	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		4	97	0	0	0	1	0	4	97				
SKIV2L	6499	broad.mit.edu	37	6	31934589	31934589	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:31934589G>A	ENST00000375394.2	+	19	2419	c.2306G>A	c.(2305-2307)aGc>aAc	p.S769N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S576N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	769					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATGAAGAGGAGCTTCTCTGAG	0.562																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(2305-2307)aGc>aAc		superkiller viralicidic activity 2-like (S. cerevisiae)							91.0	79.0	83.0					6																	31934589		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31934589G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2306G>A	6.37:g.31934589G>A	ENSP00000364543:p.Ser769Asn					SKIV2L_ENST00000544581.1_Missense_Mutation_p.S576N	p.S769N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			19	2419	+			769					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.2306G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185675	0.94885	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.64085	0.07;-0.08	5.5	5.5	0.81552	.	0.040039	0.85682	D	0.000000	T	0.75903	0.3913	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77574	-0.2537	10	0.87932	D	0	-20.1053	18.5345	0.91004	0.0:0.0:1.0:0.0	.	769	Q15477	SKIV2_HUMAN	N	769;611;576	ENSP00000364543:S769N;ENSP00000442645:S576N	ENSP00000364543:S769N	S	+	2	0	SKIV2L	32042568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.284000	0.89912	2.755000	0.94549	0.655000	0.94253	AGC		0.562	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			29	82	0	0	0	1	0	29	82				
PLPPR3	79948	broad.mit.edu	37	19	814640	814640	+	Intron	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:814640C>T	ENST00000520876.3	-	7	736				LPPR3_ENST00000359894.2_Missense_Mutation_p.E237K|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN								integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										AGGGAGGGCTCCCCACGGGTC	0.652																																						ENST00000359894.2																			0											c.(709-711)Gag>Aag									52.0	54.0	53.0					19																	814640		2196	4299	6495	SO:0001627	intron_variant	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:814640C>T																												ENST00000520876.3:c.658-33G>A	19.37:g.814640C>T						LPPR3_ENST00000520876.3_Intron	p.E237K	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			6	772	-			219					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.709G>A	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	C	4.895	0.166409	0.09339	.	.	ENSG00000129951	ENST00000359894	T	0.21734	1.99	2.58	0.142	0.14816	.	15.374300	0.00424	U	0.000075	T	0.12050	0.0293	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.16778	-1.0391	8	.	.	.	.	3.5333	0.07785	0.0:0.5025:0.2083:0.2891	.	237	Q6T4P5-3	.	K	237	ENSP00000352962:E237K	.	E	-	1	0	AC006273.1	765640	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-3.086000	0.00611	0.057000	0.16193	0.305000	0.20034	GAG		0.652	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			4	90	0	0	0	1	0	4	90				
MBD3	53615	broad.mit.edu	37	19	1585084	1585084	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:1585084G>A	ENST00000434436.3	-	2	369	c.240C>T	c.(238-240)cgC>cgT	p.R80R	MBD3_ENST00000156825.1_Silent_p.R80R|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.R48R|MBD3_ENST00000590550.2_Silent_p.R24R|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	80					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTAGCGCACGCGCTGGCGGC	0.662																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(70-72)cgC>cgT		methyl-CpG binding domain protein 3							85.0	57.0	66.0					19																	1585084		2203	4300	6503	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1585084G>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.240C>T	19.37:g.1585084G>A						MBD3_ENST00000156825.1_Silent_p.R80R|MBD3_ENST00000434436.3_Silent_p.R80R|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.R48R	p.R24R			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	1	445	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	80			MBD.		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.72C>T	CCDS12072.1																																																																																				0.662	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		8	44	0	0	0	1	0	8	44				
P2RX4	5025	broad.mit.edu	37	12	121666390	121666390	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:121666390C>G	ENST00000337233.4	+	6	887	c.579C>G	c.(577-579)atC>atG	p.I193M	P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_Missense_Mutation_p.I92M|P2RX4_ENST00000541532.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.I209M	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	193					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAACAACATCTGGTATCCCA	0.373																																						ENST00000337233.4																			0				breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(577-579)atC>atG		purinergic receptor P2X, ligand-gated ion channel, 4							80.0	78.0	79.0					12																	121666390		2203	4300	6503	SO:0001583	missense	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121666390C>G	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.579C>G	12.37:g.121666390C>G	ENSP00000336607:p.Ile193Met					P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.I209M|P2RX4_ENST00000543171.1_Missense_Mutation_p.I92M|P2RX4_ENST00000541532.1_3'UTR	p.I193M	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN			6	887	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		193					E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	c.579C>G	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030095	0.54790	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000538701;ENST00000542067	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.26	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	H	0.94385	3.53	0.40565	D	0.981242	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.23904	-1.0175	10	0.87932	D	0	-31.2646	4.9172	0.13851	0.1704:0.6476:0.0:0.182	.	166;209;193	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	M	193;209;92;63;166	ENSP00000336607:I193M;ENSP00000353032:I209M;ENSP00000438131:I92M;ENSP00000444033:I63M;ENSP00000438329:I166M	ENSP00000336607:I193M	I	+	3	3	P2RX4	120150773	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.557000	0.23454	1.351000	0.45789	0.462000	0.41574	ATC		0.373	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		5	32	0	0	0	1	0	5	32				
AKR1B10	57016	broad.mit.edu	37	7	134223689	134223689	+	Silent	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:134223689C>G	ENST00000359579.4	+	9	1148	c.828C>G	c.(826-828)gtC>gtG	p.V276V		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	276					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTTTCCAGGTCTTTGACTTTA	0.483																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(826-828)gtC>gtG		aldo-keto reductase family 1, member B10 (aldose reductase)							138.0	116.0	123.0					7																	134223689		2203	4300	6503	SO:0001819	synonymous_variant	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134223689C>G	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.828C>G	7.37:g.134223689C>G							p.V276V	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN			9	1148	+			276					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Silent	SNP	ENST00000359579.4	37	c.828C>G	CCDS5832.1																																																																																				0.483	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		4	57	0	0	0	1	0	4	57				
NAV3	89795	broad.mit.edu	37	12	78513418	78513418	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:78513418G>T	ENST00000397909.2	+	15	3615	c.3442G>T	c.(3442-3444)Ggc>Tgc	p.G1148C	NAV3_ENST00000536525.2_Missense_Mutation_p.G1148C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1148C|NAV3_ENST00000228327.6_Missense_Mutation_p.G1148C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1148	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCACCAGTGGCATTCCTGG	0.537										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3442-3444)Ggc>Tgc		neuron navigator 3							68.0	70.0	69.0					12																	78513418		1996	4170	6166	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513418G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3442G>T	12.37:g.78513418G>T	ENSP00000381007:p.Gly1148Cys	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.G1148C|NAV3_ENST00000536525.2_Missense_Mutation_p.G1148C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1148C	p.G1148C			Q8IVL0	NAV3_HUMAN			15	3615	+			1148			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3442G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.08|18.08	3.543201|3.543201	0.65198|0.65198	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53|.	5.75|5.75	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.40818|.	U|.	0.001011|.	T|T	0.65903|0.65903	0.2736|0.2736	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.998|.	D;D;P;D|.	0.77557|.	0.956;0.99;0.864;0.911|.	T|T	0.63060|0.63060	-0.6721|-0.6721	10|5	0.72032|.	D|.	0.01|.	-18.8108|-18.8108	16.7084|16.7084	0.85378|0.85378	0.0:0.1295:0.8705:0.0|0.0:0.1295:0.8705:0.0	.|.	1148;1148;1148;1148|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	C|L	1148|219	ENSP00000446132:G1148C;ENSP00000381007:G1148C;ENSP00000228327:G1148C;ENSP00000266692:G1148C|.	ENSP00000228327:G1148C|.	G|W	+|+	1|2	0|0	NAV3|NAV3	77037549|77037549	1.000000|1.000000	0.71417|0.71417	0.775000|0.775000	0.31657|0.31657	0.802000|0.802000	0.45316|0.45316	6.415000|6.415000	0.73328|0.73328	1.384000|1.384000	0.46424|0.46424	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.537	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		25	75	1	0	7.92952e-12	1	8.39472e-12	25	75				
COL7A1	1294	broad.mit.edu	37	3	48611304	48611304	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:48611304C>T	ENST00000328333.8	-	80	6628	c.6521G>A	c.(6520-6522)gGc>gAc	p.G2174D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2142D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2174	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCAGGGGGGCCTCTTGGACC	0.602																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(6520-6522)gGc>gAc		collagen, type VII, alpha 1							35.0	37.0	36.0					3																	48611304		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611304C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6521G>A	3.37:g.48611304C>T	ENSP00000332371:p.Gly2174Asp					COL7A1_ENST00000454817.1_Missense_Mutation_p.G2142D	p.G2174D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	80	6628	-			2174			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6521G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	7.717	0.696321	0.15106	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99619	-6.28;-6.28	5.42	5.42	0.78866	.	0.000000	0.42548	D	0.000683	D	0.99834	0.9925	H	0.99777	4.77	0.44754	D	0.99775	D	0.89917	1.0	D	0.76071	0.987	D	0.96820	0.9603	10	0.87932	D	0	.	11.7852	0.52039	0.0:0.9167:0.0:0.0833	.	2174	Q02388	CO7A1_HUMAN	D	2174;2142	ENSP00000332371:G2174D;ENSP00000412569:G2142D	ENSP00000332371:G2174D	G	-	2	0	COL7A1	48586308	0.999000	0.42202	0.780000	0.31762	0.023000	0.10783	6.010000	0.70753	2.520000	0.84964	0.655000	0.94253	GGC		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		5	40	0	0	0	1	0	5	40				
CCDC18	343099	broad.mit.edu	37	1	93648935	93648935	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:93648935C>T	ENST00000343253.7	+	2	519	c.17C>T	c.(16-18)tCa>tTa	p.S6L	CCDC18_ENST00000557479.1_Missense_Mutation_p.S124L|TMED5_ENST00000370282.3_5'Flank|CCDC18_ENST00000401026.3_Missense_Mutation_p.S6L|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	6										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTAGTTCATCAGACTACTAT	0.303																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(16-18)tCa>tTa		coiled-coil domain containing 18							79.0	76.0	77.0					1																	93648935		1807	4059	5866	SO:0001583	missense	343099							g.chr1:93648935C>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.17C>T	1.37:g.93648935C>T	ENSP00000343377:p.Ser6Leu					CCDC18_ENST00000401026.3_Missense_Mutation_p.S6L|CCDC18_ENST00000557479.1_Missense_Mutation_p.S124L|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR	p.S6L			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	2	519	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	6					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.17C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.145|6.145	0.394990|0.394990	0.11638|0.11638	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.29|5.29	4.14|4.14	0.48551|0.48551	.|.	.|0.399797	.|0.21480	.|N	.|0.073846	.|T	.|0.14787	.|0.0357	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.08055	.|0.003	.|T	.|0.16100	.|-1.0414	.|9	.|0.09338	.|T	.|0.73	.|.	5.3381|5.3381	0.15969|0.15969	0.0:0.5874:0.274:0.1386|0.0:0.5874:0.274:0.1386	.|.	.|124	.|G3V388	.|.	X|L	60|6;6;124	.|.	.|ENSP00000343377:S6L	Q|S	+|+	1|2	0|0	CCDC18|CCDC18	93421523|93421523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.152000|2.152000	0.42272|0.42272	2.630000|2.630000	0.89119|0.89119	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.303	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		13	36	0	0	0	1	0	13	36				
ANKRD52	283373	broad.mit.edu	37	12	56651665	56651665	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:56651665C>G	ENST00000267116.7	-	2	179	c.58G>C	c.(58-60)Gat>Cat	p.D20H		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	20										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCTCCACATCTCGGCTAAAG	0.637																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(58-60)Gat>Cat		ankyrin repeat domain 52							47.0	49.0	49.0					12																	56651665		1950	4145	6095	SO:0001583	missense	283373						protein binding	g.chr12:56651665C>G	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.58G>C	12.37:g.56651665C>G	ENSP00000267116:p.Asp20His						p.D20H	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			2	179	-			20					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.58G>C	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108277	0.56291	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.65916	-0.18	3.46	3.46	0.39613	Ankyrin repeat-containing domain (4);	0.064498	0.64402	D	0.000005	T	0.51058	0.1652	L	0.33792	1.035	0.43412	D	0.995555	B	0.31153	0.31	B	0.43360	0.417	T	0.42832	-0.9428	10	0.02654	T	1	.	8.7531	0.34629	0.0:0.8892:0.0:0.1108	.	20	Q8NB46	ANR52_HUMAN	H	20	ENSP00000267116:D20H	ENSP00000267116:D20H	D	-	1	0	ANKRD52	54937932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.394000	0.52551	2.218000	0.71995	0.484000	0.47621	GAT		0.637	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		5	54	0	0	0	1	0	5	54				
ANKRD44	91526	broad.mit.edu	37	2	197878343	197878343	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:197878343G>T	ENST00000328737.2	-	18	1817	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M	ANKRD44_ENST00000450567.1_Missense_Mutation_p.L581M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L598M|ANKRD44_ENST00000337207.5_Missense_Mutation_p.L581M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	606										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGGCAGCCAGATCCAGAGCA	0.502																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1741-1743)Ctg>Atg		ankyrin repeat domain 44							230.0	219.0	223.0					2																	197878343		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197878343G>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1741C>A	2.37:g.197878343G>T	ENSP00000331516:p.Leu581Met					ANKRD44_ENST00000337207.5_Missense_Mutation_p.L581M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L598M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.L581M	p.L581M			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1817	-			606					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1741C>A		.	.	.	.	.	.	.	.	.	.	G	18.97	3.735216	0.69189	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	4.43	2.64	0.31445	.	0.000000	0.64402	D	0.000003	T	0.74015	0.3661	L	0.49513	1.565	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72164	-0.4373	10	0.54805	T	0.06	.	9.7541	0.40494	0.2235:0.0:0.7765:0.0	.	624	Q8N8A2-2	.	M	421;598;581;581;581;281	ENSP00000403415:L421M;ENSP00000282272:L598M;ENSP00000331516:L581M;ENSP00000402420:L581M;ENSP00000338794:L581M;ENSP00000416319:L281M	ENSP00000282272:L598M	L	-	1	2	ANKRD44	197586588	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	3.269000	0.51592	0.508000	0.28173	0.655000	0.94253	CTG		0.502	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		9	269	1	0	1.33987e-11	1	1.4147e-11	9	269				
MSLNL	401827	broad.mit.edu	37	16	823222	823222	+	Silent	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:823222C>A	ENST00000442466.1	-	9	992	c.993G>T	c.(991-993)ctG>ctT	p.L331L	MSLNL_ENST00000293892.3_Silent_p.L682L|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	331					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGCAGCCATCCAGGCAGGACT	0.632																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2044-2046)ctG>ctT		mesothelin-like							55.0	64.0	61.0					16																	823222		2155	4243	6398	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:823222C>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.993G>T	16.37:g.823222C>A						MSLNL_ENST00000442466.1_Silent_p.L331L	p.L682L			Q96KJ4	MSLNL_HUMAN			10	2045	-			331						Silent	SNP	ENST00000442466.1	37	c.2046G>T																																																																																					0.632	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		4	86	1	0	0.014758	1	0.0148327	4	86				
ADAMTS6	11174	broad.mit.edu	37	5	64769418	64769418	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:64769418G>A	ENST00000536360.1	-	2	896	c.83C>T	c.(82-84)tCa>tTa	p.S28L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	28						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGAACTGTATGAAAGCCTGTG	0.363																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(82-84)tCa>tTa		ADAM metallopeptidase with thrombospondin type 1 motif, 6							134.0	148.0	143.0					5																	64769418		2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64769418G>A	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.83C>T	5.37:g.64769418G>A	ENSP00000440995:p.Ser28Leu						p.S28L			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	2	896	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	28					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.83C>T		.	.	.	.	.	.	.	.	.	.	G	19.14	3.768902	0.69878	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.58797	0.33;0.46;0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	N	0.24115	0.695	0.58432	D	0.999997	B	0.17038	0.02	B	0.15484	0.013	T	0.27739	-1.0065	10	0.27082	T	0.32	.	17.4616	0.87621	0.0:0.0:1.0:0.0	.	28	Q9UKP5	ATS6_HUMAN	L	28	ENSP00000370443:S28L;ENSP00000423551:S28L;ENSP00000440995:S28L	ENSP00000261306:S28L	S	-	2	0	ADAMTS6	64805174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.995000	0.93534	2.620000	0.88729	0.650000	0.86243	TCA		0.363	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		44	155	0	0	0	1	0	44	155				
PCDHGA6	56109	broad.mit.edu	37	5	140755803	140755803	+	Missense_Mutation	SNP	G	G	A	rs202155785	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:140755803G>A	ENST00000517434.1	+	1	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	718					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTGCAGCGCTGGCACAAG	0.647																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2152-2154)cGc>cAc									84.0	93.0	90.0					5																	140755803		2203	4300	6503	SO:0001583	missense	56109							g.chr5:140755803G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2153G>A	5.37:g.140755803G>A	ENSP00000429601:p.Arg718His					PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.R718H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2153	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2153G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.893787	0.33442	.	.	ENSG00000253731	ENST00000517434	T	0.21734	1.99	5.15	0.485	0.16830	.	2.171190	0.04336	N	0.353247	T	0.22820	0.0551	L	0.57536	1.79	0.21473	N	0.999679	B;B	0.27853	0.191;0.021	B;B	0.23018	0.043;0.041	T	0.31752	-0.9932	10	0.41790	T	0.15	.	8.7773	0.34769	0.4156:0.0:0.5844:0.0	.	718;718	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	H	718	ENSP00000429601:R718H	ENSP00000429601:R718H	R	+	2	0	PCDHGA6	140735987	0.000000	0.05858	0.968000	0.41197	0.221000	0.24807	-0.180000	0.09754	0.204000	0.20548	0.655000	0.94253	CGC		0.647	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		5	207	0	0	0	1	0	5	207				
XPC	7508	broad.mit.edu	37	3	14187459	14187459	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:14187459G>A	ENST00000285021.7	-	16	3019	c.2805C>T	c.(2803-2805)ttC>ttT	p.F935F	AC093495.4_ENST00000428681.3_RNA|AC093495.4_ENST00000420253.1_RNA|RP11-434D12.1_ENST00000608606.1_Intron|XPC_ENST00000449060.2_Silent_p.F898F|RP11-434D12.1_ENST00000601399.1_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	935	Interaction with ERCC2 and GTF2H1.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCAAATGGGAACAGGTGGG	0.592			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2803-2805)ttC>ttT	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							78.0	84.0	82.0					3																	14187459		1903	4119	6022	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14187459G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2805C>T	3.37:g.14187459G>A						XPC_ENST00000449060.2_Silent_p.F898F|RP11-434D12.1_ENST00000601399.1_RNA|AC093495.4_ENST00000420253.1_RNA	p.F935F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			16	3019	-			935			Interaction with ERCC2 and GTF2H1.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.2805C>T	CCDS46763.1																																																																																				0.592	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		26	77	0	0	0	1	0	26	77				
EIF5A2	56648	broad.mit.edu	37	3	170625446	170625446	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:170625446C>A	ENST00000295822.2	-	2	335	c.150G>T	c.(148-150)aaG>aaT	p.K50N	EIF5A2_ENST00000487522.1_Missense_Mutation_p.K50N|EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000474096.1_Missense_Mutation_p.K50N	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	50					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CATGACCATGCTTTCCAGTTT	0.468																																						ENST00000295822.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(148-150)aaG>aaT		eukaryotic translation initiation factor 5A2							191.0	173.0	179.0					3																	170625446		2203	4300	6503	SO:0001583	missense	56648				mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	g.chr3:170625446C>A	AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.150G>T	3.37:g.170625446C>A	ENSP00000295822:p.Lys50Asn					EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000487522.1_Missense_Mutation_p.K50N|EIF5A2_ENST00000474096.1_Missense_Mutation_p.K50N	p.K50N	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)		2	335	-	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		50					B2R4V5	Missense_Mutation	SNP	ENST00000295822.2	37	c.150G>T	CCDS3214.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466831	0.63625	.	.	ENSG00000163577	ENST00000295822;ENST00000487522;ENST00000474096;ENST00000474417	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.77	3.03	0.35002	KOW (1);Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	H	0.97564	4.03	0.80722	D	1	D	0.59767	0.986	D	0.66196	0.942	T	0.80970	-0.1144	10	0.87932	D	0	-12.2596	8.6897	0.34260	0.0:0.7153:0.0:0.2847	.	50	Q9GZV4	IF5A2_HUMAN	N	50;50;50;31	ENSP00000295822:K50N;ENSP00000418305:K50N;ENSP00000418370:K50N;ENSP00000417133:K31N	ENSP00000295822:K50N	K	-	3	2	EIF5A2	172108140	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	2.427000	0.44740	0.789000	0.33779	0.561000	0.74099	AAG		0.468	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352681.1			57	144	1	0	7.41606e-26	1	8.00047e-26	57	144				
SLC6A5	9152	broad.mit.edu	37	11	20648345	20648345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:20648345G>A	ENST00000525748.1	+	8	1625	c.1352G>A	c.(1351-1353)tGg>tAg	p.W451*		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	451					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCTGGGATCTGGTACTTCATC	0.557																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1351-1353)tGg>tAg		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						131.0	121.0	125.0					11																	20648345		2203	4300	6503	SO:0001587	stop_gained	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648345G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1352G>A	11.37:g.20648345G>A	ENSP00000434364:p.Trp451*						p.W451*	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			8	1625	+			451					O95288|Q4VAM7|Q9BX77	Nonsense_Mutation	SNP	ENST00000525748.1	37	c.1352G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	41	9.119368	0.99071	.	.	ENSG00000165970	ENST00000525748	.	.	.	6.04	6.04	0.98038	.	0.186445	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.1743	0.98175	0.0:0.0:1.0:0.0	.	.	.	.	X	451	.	ENSP00000434364:W451X	W	+	2	0	SLC6A5	20604921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.873000	0.98535	0.561000	0.74099	TGG		0.557	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		35	124	0	0	0	1	0	35	124				
SCAMP3	10067	broad.mit.edu	37	1	155227141	155227141	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:155227141G>A	ENST00000302631.3	-	7	821	c.714C>T	c.(712-714)ttC>ttT	p.F238F	FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000355379.3_Silent_p.F212F|FAM189B_ENST00000361361.2_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	238					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGAAGAAAATGAAGAAGAAAA	0.473																																						ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(634-636)ttC>ttT		secretory carrier membrane protein 3							55.0	50.0	52.0					1																	155227141		2203	4300	6503	SO:0001819	synonymous_variant	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155227141G>A	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.714C>T	1.37:g.155227141G>A						SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Silent_p.F238F	p.F212F	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	914	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		238					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Silent	SNP	ENST00000302631.3	37	c.636C>T	CCDS1105.1																																																																																				0.473	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		8	28	0	0	0	1	0	8	28				
IGHM	3507	broad.mit.edu	37	14	106321164	106321164	+	RNA	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:106321164C>T	ENST00000390559.2	-	0	824				hsa-mir-4539_ENST00000579784.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.2_ENST00000581918.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TGGGGTGGCTCTCGGAGATGT	0.597																																						ENST00000390559.2																			0																				91.0	103.0	99.0					14																	106321164		2104	4211	6315			3507							g.chr14:106321164C>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321164C>T														0	824	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.597	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		28	55	0	0	0	1	0	28	55				
GNAI1	2770	broad.mit.edu	37	7	79840284	79840284	+	Splice_Site	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:79840284G>C	ENST00000351004.3	+	6	963		c.e6-1		GNAI1_ENST00000457358.2_Splice_Site	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CCTCTTAACAGAATGTTTGAT	0.398																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.e6-1		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							140.0	122.0	128.0					7																	79840284		2203	4300	6503	SO:0001630	splice_region_variant	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79840284G>C	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.591-1G>C	7.37:g.79840284G>C						GNAI1_ENST00000457358.2_Splice_Site		NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			6	963	+								A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Splice_Site	SNP	ENST00000351004.3	37		CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879198	0.91740	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8674	0.96824	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNAI1	79678220	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.813000	0.99286	2.690000	0.91761	0.655000	0.94253	.		0.398	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069	Intron	24	64	0	0	0	1	0	24	64				
EYA1	2138	broad.mit.edu	37	8	72184108	72184108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:72184108G>T	ENST00000340726.3	-	10	1490	c.851C>A	c.(850-852)tCa>tAa	p.S284*	EYA1_ENST00000388743.2_Nonsense_Mutation_p.S283*|EYA1_ENST00000303824.7_Nonsense_Mutation_p.S278*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.S250*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.S251*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.S284*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.S279*	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	284					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATGGGTGTTGATGGGCTGTG	0.448																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	GRCh37	CM081602	EYA1	M		c.(850-852)tCa>tAa		eyes absent homolog 1 (Drosophila)							267.0	252.0	257.0					8																	72184108		2203	4300	6503	SO:0001587	stop_gained	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184108G>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.851C>A	8.37:g.72184108G>T	ENSP00000342626:p.Ser284*					EYA1_ENST00000303824.7_Nonsense_Mutation_p.S278*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.S250*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.S284*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.S279*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.S251*|EYA1_ENST00000388743.2_Nonsense_Mutation_p.S283*	p.S284*	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1490	-	Breast(64;0.046)		284					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Nonsense_Mutation	SNP	ENST00000340726.3	37	c.851C>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	42	9.789048	0.99264	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	.	.	.	5.55	5.55	0.83447	.	0.071471	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4022	19.5099	0.95137	0.0:0.0:1.0:0.0	.	.	.	.	X	284;284;252;251;278;250;283;279	.	ENSP00000303221:S278X	S	-	2	0	EYA1	72346662	1.000000	0.71417	0.959000	0.39883	0.713000	0.41058	9.414000	0.97362	2.627000	0.88993	0.561000	0.74099	TCA		0.448	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		10	322	1	0	0.000673444	1	0.000682034	10	322				
ATF4	468	broad.mit.edu	37	22	39917485	39917485	+	Missense_Mutation	SNP	T	T	C	rs527712972	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:39917485T>C	ENST00000337304.2	+	1	917	c.35T>C	c.(34-36)tTg>tCg	p.L12S	ATF4_ENST00000404241.2_Missense_Mutation_p.L12S|ATF4_ENST00000396680.1_Missense_Mutation_p.L12S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	12					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)	AGCGAGGTGTTGGTGGGGGAC	0.517																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(34-36)tTg>tCg		activating transcription factor 4							71.0	69.0	70.0					22																	39917485		2203	4300	6503	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.chr22:39917485T>C	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.35T>C	22.37:g.39917485T>C	ENSP00000336790:p.Leu12Ser					ATF4_ENST00000404241.2_Missense_Mutation_p.L12S|ATF4_ENST00000396680.1_Missense_Mutation_p.L12S	p.L12S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			1	917	+	Melanoma(58;0.04)		12					Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	c.35T>C	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070321	0.55539	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.48201	0.82;0.82;0.82	4.65	3.56	0.40772	.	0.319686	0.26355	N	0.024844	T	0.43010	0.1228	L	0.55481	1.735	0.44762	D	0.997762	P	0.39576	0.679	B	0.38458	0.274	T	0.51260	-0.8728	10	0.87932	D	0	-1.831	11.3702	0.49696	0.0:0.0:0.1514:0.8486	.	12	P18848	ATF4_HUMAN	S	12	ENSP00000384587:L12S;ENSP00000336790:L12S;ENSP00000379912:L12S	ENSP00000336790:L12S	L	+	2	0	ATF4	38247431	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	2.899000	0.48679	1.727000	0.51537	0.459000	0.35465	TTG		0.517	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		36	105	0	0	0	1	0	36	105				
VWA7	80737	broad.mit.edu	37	6	31737492	31737492	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:31737492G>T	ENST00000375688.4	-	9	1477	c.1277C>A	c.(1276-1278)aCc>aAc	p.T426N	VWA7_ENST00000375686.3_Missense_Mutation_p.T426N|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.T426N			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	426	VWFA.					extracellular region (GO:0005576)											CACCTGGTTGGTGAGAAAGGC	0.597																																						ENST00000375686.3																			0											c.(1276-1278)aCc>aAc		von Willebrand factor A domain containing 7							114.0	124.0	121.0					6																	31737492		1509	2708	4217	SO:0001583	missense	80737					extracellular region		g.chr6:31737492G>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1277C>A	6.37:g.31737492G>T	ENSP00000364840:p.Thr426Asn					VWA7_ENST00000375688.4_Missense_Mutation_p.T426N|VWA7_ENST00000447450.1_Missense_Mutation_p.T426N|VWA7_ENST00000467576.1_5'UTR	p.T426N	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			9	1514	-			426					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1277C>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521262	0.44866	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.97642	-4.47;-4.47;-4.47	5.62	4.7	0.59300	von Willebrand factor, type A (1);	0.542603	0.19219	N	0.119706	D	0.94228	0.8147	L	0.46157	1.445	0.28915	N	0.892473	D	0.56035	0.974	P	0.53954	0.738	D	0.88615	0.3159	10	0.13108	T	0.6	-31.2851	12.1451	0.54018	0.0:0.29:0.71:0.0	.	426	Q9Y334	G7C_HUMAN	N	426	ENSP00000364840:T426N;ENSP00000364838:T426N;ENSP00000390554:T426N	ENSP00000364838:T426N	T	-	2	0	C6orf27	31845471	0.997000	0.39634	1.000000	0.80357	0.861000	0.49209	1.265000	0.33027	2.657000	0.90304	0.561000	0.74099	ACC		0.597	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		7	132	1	0	0.0293803	1	0.0294545	7	132				
OR52N2	390077	broad.mit.edu	37	11	5842217	5842217	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:5842217G>A	ENST00000317037.2	+	1	674	c.652G>A	c.(652-654)Gta>Ata	p.V218I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	218						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)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTATCTCTGTATCTTACAC	0.448																																						ENST00000317037.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(652-654)Gta>Ata		olfactory receptor, family 52, subfamily N, member 2							383.0	327.0	346.0					11																	5842217		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842217G>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.652G>A	11.37:g.5842217G>A	ENSP00000322801:p.Val218Ile					TRIM5_ENST00000380027.1_Intron	p.V218I	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	674	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	218					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.652G>A	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.436016	0.01108	.	.	ENSG00000180988	ENST00000317037	T	0.37235	1.21	6.11	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.493963	0.18663	N	0.134670	T	0.24160	0.0585	L	0.33624	1.015	0.09310	N	1	B	0.06786	0.001	B	0.14578	0.011	T	0.24870	-1.0148	10	0.15066	T	0.55	.	8.7921	0.34857	0.136:0.1245:0.7396:0.0	.	218	Q8NGI0	O52N2_HUMAN	I	218	ENSP00000322801:V218I	ENSP00000322801:V218I	V	+	1	0	OR52N2	5798793	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-1.464000	0.02359	0.464000	0.27142	-0.126000	0.14955	GTA		0.448	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		7	219	0	0	0	1	0	7	219				
BCAR3	8412	broad.mit.edu	37	1	94027950	94027950	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:94027950C>G	ENST00000370244.1	-	14	2614	c.2326G>C	c.(2326-2328)Gaa>Caa	p.E776Q	BCAR3_ENST00000370247.3_Missense_Mutation_p.E685Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.E776Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E776Q|BCAR3_ENST00000539242.1_Missense_Mutation_p.E452Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	776	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTGCAGATTTCATTCATTTCT	0.353																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2326-2328)Gaa>Caa		breast cancer anti-estrogen resistance 3							109.0	105.0	106.0					1																	94027950		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94027950C>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2326G>C	1.37:g.94027950C>G	ENSP00000359264:p.Glu776Gln					BCAR3_ENST00000539242.1_Missense_Mutation_p.E452Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E776Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.E685Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.E776Q	p.E776Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	14	2614	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	776			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2326G>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595398	0.86953	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.36157	1.34;1.32;1.32;1.32;1.27	5.45	5.45	0.79879	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.048236	0.85682	D	0.000000	T	0.58032	0.2094	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.62923	-0.6751	10	0.87932	D	0	-24.4223	19.277	0.94036	0.0:1.0:0.0:0.0	.	776;685	O75815;Q5TEW3	BCAR3_HUMAN;.	Q	685;776;776;776;452	ENSP00000359267:E685Q;ENSP00000260502:E776Q;ENSP00000359264:E776Q;ENSP00000359263:E776Q;ENSP00000441343:E452Q	ENSP00000260502:E776Q	E	-	1	0	BCAR3	93800538	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.427000	0.80284	2.558000	0.86282	0.561000	0.74099	GAA		0.353	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			27	49	0	0	0	1	0	27	49				
TRIM5	85363	broad.mit.edu	37	11	5699628	5699628	+	Missense_Mutation	SNP	C	C	G	rs546533341		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:5699628C>G	ENST00000380034.3	-	4	806	c.550G>C	c.(550-552)Gat>Cat	p.D184H	TRIM5_ENST00000396855.3_Missense_Mutation_p.D184H|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Missense_Mutation_p.D184H|TRIM5_ENST00000396853.4_Missense_Mutation_p.D184H|TRIM5_ENST00000380027.1_Missense_Mutation_p.D184H|TRIM5_ENST00000305836.5_Missense_Mutation_p.D184H	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	184					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TGCTCAAAATCTGCCAAGACG	0.468																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(550-552)Gat>Cat		tripartite motif containing 5							130.0	123.0	125.0					11																	5699628		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699628C>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.550G>C	11.37:g.5699628C>G	ENSP00000369373:p.Asp184His					TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Missense_Mutation_p.D184H|TRIM5_ENST00000380027.1_Missense_Mutation_p.D184H|TRIM5_ENST00000396853.4_Missense_Mutation_p.D184H|TRIM5_ENST00000396855.3_Missense_Mutation_p.D184H|TRIM5_ENST00000380034.3_Missense_Mutation_p.D184H	p.D184H			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	852	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	184					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.550G>C	CCDS31393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.400730|2.400730	0.42613|0.42613	.|.	.|.	ENSG00000132256|ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903|ENST00000438025	T;T;T;T;T;T;T|.	0.71934|.	3.56;3.56;3.56;3.56;3.56;3.56;-0.61|.	4.74|4.74	-2.5|-2.5	0.06384|0.06384	.|.	1.310930|.	0.05021|.	N|.	0.472749|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	1|1	P;B;P|.	0.40909|.	0.683;0.053;0.732|.	P;B;B|.	0.46585|.	0.521;0.089;0.321|.	T|T	0.31558|0.31558	-0.9939|-0.9939	10|5	0.87932|.	D|.	0|.	.|.	3.1314|3.1314	0.06424|0.06424	0.129:0.2894:0.416:0.1655|0.129:0.2894:0.416:0.1655	.|.	184;184;184|.	Q9C035-3;Q9C035-4;Q9C035|.	.;.;TRIM5_HUMAN|.	H|H	184|60	ENSP00000380064:D184H;ENSP00000307031:D184H;ENSP00000369373:D184H;ENSP00000369366:D184H;ENSP00000380058:D184H;ENSP00000380062:D184H;ENSP00000388031:D184H|.	ENSP00000307031:D184H|.	D|Q	-|-	1|3	0|2	TRIM5|TRIM5	5656204|5656204	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.340000|-0.340000	0.07821|0.07821	-0.571000|-0.571000	0.06014|0.06014	-0.211000|-0.211000	0.12701|0.12701	GAT|CAG		0.468	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		4	128	0	0	0	1	0	4	128				
OR5H1	26341	broad.mit.edu	37	3	97852281	97852281	+	Missense_Mutation	SNP	C	C	T	rs375548200		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:97852281C>T	ENST00000354565.2	+	1	740	c.740C>T	c.(739-741)tCt>tTt	p.S247F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	247						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTCTTCTCTGTCTCTTTA	0.413																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(739-741)tCt>tTt		olfactory receptor, family 5, subfamily H, member 1							127.0	136.0	133.0					3																	97852281		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852281C>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.740C>T	3.37:g.97852281C>T	ENSP00000346575:p.Ser247Phe					RP11-343D2.11_ENST00000508964.1_RNA	p.S247F	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	740	+			247						Missense_Mutation	SNP	ENST00000354565.2	37	c.740C>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	3.286	-0.145907	0.06627	.	.	ENSG00000231192	ENST00000354565	T	0.00115	8.71	3.57	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.150377	0.31370	N	0.007768	T	0.00210	0.0006	M	0.64080	1.96	0.09310	N	1	B	0.32604	0.377	B	0.41202	0.35	T	0.12760	-1.0535	10	0.87932	D	0	.	9.4201	0.38546	0.0:0.5712:0.4287:0.0	.	247	A6NKK0	OR5H1_HUMAN	F	247	ENSP00000346575:S247F	ENSP00000346575:S247F	S	+	2	0	OR5H1	99334971	0.000000	0.05858	0.515000	0.27774	0.011000	0.07611	-0.133000	0.10451	0.635000	0.30488	0.195000	0.17529	TCT		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		38	92	0	0	0	1	0	38	92				
TMUB2	79089	broad.mit.edu	37	17	42266425	42266425	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42266425C>G	ENST00000587989.1	+	3	224	c.71C>G	c.(70-72)tCt>tGt	p.S24C	TMUB2_ENST00000589785.1_Missense_Mutation_p.S4C|TMUB2_ENST00000589856.1_Missense_Mutation_p.S4C|TMUB2_ENST00000592825.1_Missense_Mutation_p.S4C|TMUB2_ENST00000357984.3_Missense_Mutation_p.S4C|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000589184.1_Missense_Mutation_p.S4C|TMUB2_ENST00000319511.6_Missense_Mutation_p.S4C|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000590235.1_Missense_Mutation_p.S4C|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000538716.2_Missense_Mutation_p.S24C|TMUB2_ENST00000446571.3_Missense_Mutation_p.S4C|TMUB2_ENST00000587172.1_Missense_Mutation_p.S4C|ASB16-AS1_ENST00000592897.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	24						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATGGAGCTCTCTGATGTCACC	0.572																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(10-12)tCt>tGt		transmembrane and ubiquitin-like domain containing 2							89.0	77.0	81.0					17																	42266425		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266425C>G		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.71C>G	17.37:g.42266425C>G	ENSP00000466971:p.Ser24Cys					TMUB2_ENST00000538716.2_Missense_Mutation_p.S24C|TMUB2_ENST00000589184.1_Missense_Mutation_p.S4C|TMUB2_ENST00000587172.1_Missense_Mutation_p.S4C|TMUB2_ENST00000587989.1_Missense_Mutation_p.S24C|TMUB2_ENST00000446571.3_Missense_Mutation_p.S4C|TMUB2_ENST00000592825.1_Missense_Mutation_p.S4C|TMUB2_ENST00000357984.3_Missense_Mutation_p.S4C|TMUB2_ENST00000590235.1_Missense_Mutation_p.S4C|TMUB2_ENST00000589785.1_Missense_Mutation_p.S4C|TMUB2_ENST00000589856.1_Missense_Mutation_p.S4C	p.S4C	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	661	+		Breast(137;0.00765)|Prostate(33;0.0181)	24					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.11C>G	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523313	0.64747	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44881	0.91;1.01;0.98;1.01	4.94	4.94	0.65067	.	0.187590	0.47852	D	0.000216	T	0.31544	0.0800	N	0.19112	0.55	0.34265	D	0.680394	B;B;B;B	0.11235	0.001;0.004;0.004;0.002	B;B;B;B	0.12156	0.001;0.004;0.007;0.002	T	0.34179	-0.9839	10	0.39692	T	0.17	.	16.9385	0.86209	0.0:1.0:0.0:0.0	.	4;4;4;24	E7ESS3;Q71RG4-3;Q71RG4-4;Q71RG4	.;.;.;TMUB2_HUMAN	C	4;4;24;4	ENSP00000413127:S4C;ENSP00000350672:S4C;ENSP00000444565:S24C;ENSP00000313214:S4C	ENSP00000313214:S4C	S	+	2	0	TMUB2	39621951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.339000	0.59322	2.252000	0.74401	0.561000	0.74099	TCT		0.572	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		24	41	0	0	0	1	0	24	41				
ATOH7	220202	broad.mit.edu	37	10	69991147	69991147	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:69991147C>T	ENST00000373673.3	-	1	724	c.288G>A	c.(286-288)ctG>ctA	p.L96L	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	96					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CGGCCTCGGCCAGGATCCGGG	0.647																																						ENST00000373673.3																			0											c.(286-288)ctG>ctA		atonal homolog 7 (Drosophila)							44.0	44.0	44.0					10																	69991147		2203	4300	6503	SO:0001819	synonymous_variant	220202				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr10:69991147C>T	AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"""Basic helix-loop-helix proteins"""	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.288G>A	10.37:g.69991147C>T							p.L96L	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN			1	724	-			96						Silent	SNP	ENST00000373673.3	37	c.288G>A	CCDS7276.1																																																																																				0.647	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048312.1			6	36	0	0	0	1	0	6	36				
ISG20L2	81875	broad.mit.edu	37	1	156693183	156693183	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:156693183G>C	ENST00000313146.6	-	3	1802	c.1020C>G	c.(1018-1020)gtC>gtG	p.V340V	ISG20L2_ENST00000368219.1_Silent_p.V340V|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	340	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCACTCGACTTCAACCA	0.557																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(1018-1020)gtC>gtG		interferon stimulated exonuclease gene 20kDa-like 2							210.0	201.0	204.0					1																	156693183		2203	4300	6503	SO:0001819	synonymous_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156693183G>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.1020C>G	1.37:g.156693183G>C						ISG20L2_ENST00000368219.1_Silent_p.V340V|ISG20L2_ENST00000472824.1_5'UTR	p.V340V	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			3	1802	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		340			Exonuclease.		D3DVC6|Q64KA2	Silent	SNP	ENST00000313146.6	37	c.1020C>G	CCDS1153.1																																																																																				0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		65	184	0	0	0	1	0	65	184				
GATA6	2627	broad.mit.edu	37	18	19762952	19762952	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:19762952C>G	ENST00000269216.3	+	6	1845	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	RNU6-702P_ENST00000364982.1_RNA|GATA6_ENST00000581694.1_Nonsense_Mutation_p.S523*	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	523					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCTTCTAACTCAGATGATTGC	0.388																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1567-1569)tCa>tGa		GATA binding protein 6							129.0	116.0	120.0					18																	19762952		2203	4300	6503	SO:0001587	stop_gained	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19762952C>G	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1568C>G	18.37:g.19762952C>G	ENSP00000269216:p.Ser523*					GATA6_ENST00000581694.1_Nonsense_Mutation_p.S523*	p.S523*	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		6	1845	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		523					B0YJ17|P78327	Nonsense_Mutation	SNP	ENST00000269216.3	37	c.1568C>G	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	C	42	9.279031	0.99123	.	.	ENSG00000141448	ENST00000269216	.	.	.	6.07	6.07	0.98685	.	0.207772	0.42964	D	0.000636	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-1.5246	18.8257	0.92117	0.0:1.0:0.0:0.0	.	.	.	.	X	523	.	ENSP00000269216:S523X	S	+	2	0	GATA6	18016950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.834000	0.75339	2.885000	0.99019	0.650000	0.86243	TCA		0.388	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		25	85	0	0	0	1	0	25	85				
MUC17	140453	broad.mit.edu	37	7	100684915	100684915	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100684915C>T	ENST00000306151.4	+	3	10282	c.10218C>T	c.(10216-10218)gtC>gtT	p.V3406V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3406	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATGCCTGTCAGCACCACGC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10216-10218)gtC>gtT		mucin 17, cell surface associated							278.0	285.0	283.0					7																	100684915		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684915C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10218C>T	7.37:g.100684915C>T							p.V3406V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10282	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3406			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.10218C>T	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		24	634	0	0	0	1	0	24	634				
CLCA2	9635	broad.mit.edu	37	1	86896618	86896618	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:86896618C>G	ENST00000370565.4	+	4	711	c.549C>G	c.(547-549)ttC>ttG	p.F183L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	183	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACAAACCTTTCTACATAAATG	0.353																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(547-549)ttC>ttG		chloride channel accessory 2							124.0	124.0	124.0					1																	86896618		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86896618C>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.549C>G	1.37:g.86896618C>G	ENSP00000359596:p.Phe183Leu						p.F183L	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	4	711	+		Lung NSC(277;0.238)	183					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.549C>G	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064098	0.76187	.	.	ENSG00000137975	ENST00000370565	T	0.19806	2.12	5.83	4.91	0.64330	Chloride channel calcium-activated (1);	0.054834	0.64402	N	0.000001	T	0.15739	0.0379	M	0.82056	2.57	0.42455	D	0.992768	B	0.24258	0.1	B	0.26094	0.066	T	0.03933	-1.0991	10	0.56958	D	0.05	-5.077	10.6329	0.45547	0.0:0.8521:0.0:0.1479	.	183	Q9UQC9	CLCA2_HUMAN	L	183	ENSP00000359596:F183L	ENSP00000359596:F183L	F	+	3	2	CLCA2	86669206	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.429000	0.34903	1.448000	0.47680	0.561000	0.74099	TTC		0.353	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		33	79	0	0	0	1	0	33	79				
SPTA1	6708	broad.mit.edu	37	1	158613167	158613167	+	Missense_Mutation	SNP	C	C	T	rs368557666		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:158613167C>T	ENST00000368147.4	-	31	4567	c.4387G>A	c.(4387-4389)Gat>Aat	p.D1463N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1463					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAGTGTTCATCAGCAATGAGG	0.448																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4387-4389)Gat>Aat		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							143.0	139.0	140.0					1																	158613167		1939	4148	6087	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158613167C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4387G>A	1.37:g.158613167C>T	ENSP00000357129:p.Asp1463Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.D1463N	p.D1463N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			31	4567	-	all_hematologic(112;0.0378)		1463					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4387G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616623	0.28801	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.46451	0.87;0.87	5.22	2.35	0.29111	.	0.510211	0.14681	N	0.304775	T	0.09555	0.0235	N	0.19112	0.55	0.29909	N	0.823707	B	0.06786	0.001	B	0.15484	0.013	T	0.34004	-0.9846	10	0.16896	T	0.51	.	8.9704	0.35903	0.0:0.7545:0.0:0.2455	.	1463	P02549	SPTA1_HUMAN	N	1463	ENSP00000357130:D1463N;ENSP00000357129:D1463N	ENSP00000357129:D1463N	D	-	1	0	SPTA1	156879791	0.997000	0.39634	0.530000	0.27963	0.932000	0.56968	3.498000	0.53302	0.360000	0.24265	0.655000	0.94253	GAT		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		18	44	0	0	0	1	0	18	44				
INTS6-AS1	100507398	broad.mit.edu	37	13	52035228	52035228	+	RNA	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:52035228G>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000596303.1_RNA					INTS6 antisense RNA 1																		GTGCTAACCTGGGAAGAATTG	0.443																																						ENST00000594959.1																			0																																																			100507398							g.chr13:52035228G>A	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035228G>A						INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596180.1_RNA								0	411	+									RNA	SNP	ENST00000594959.1	37																																																																																						0.443	INTS6-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462289.1			4	37	0	0	0	1	0	4	37				
SDR42E1	93517	broad.mit.edu	37	16	82033179	82033179	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:82033179C>T	ENST00000328945.5	-	3	846	c.719G>A	c.(718-720)aGa>aAa	p.R240K	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	240					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTTGTCAGCTCTCAGGGCTTC	0.557																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(718-720)aGa>aAa		short chain dehydrogenase/reductase family 42E, member 1							98.0	99.0	99.0					16																	82033179		1908	4119	6027	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033179C>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.719G>A	16.37:g.82033179C>T	ENSP00000332407:p.Arg240Lys						p.R240K	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	846	-			240					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.719G>A	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	2.494	-0.316644	0.05422	.	.	ENSG00000184860	ENST00000328945	D	0.83914	-1.78	5.03	-0.028	0.13924	3-beta hydroxysteroid dehydrogenase/isomerase (1);	0.248924	0.45867	N	0.000335	T	0.51109	0.1655	N	0.02420	-0.555	0.20563	N	0.99989	B	0.02656	0.0	B	0.06405	0.002	T	0.48246	-0.9052	10	0.05620	T	0.96	-4.16	5.5772	0.17231	0.0:0.3193:0.2575:0.4232	.	240	Q8WUS8	D42E1_HUMAN	K	240	ENSP00000332407:R240K	ENSP00000332407:R240K	R	-	2	0	SDR42E1	80590680	0.716000	0.27956	0.985000	0.45067	0.959000	0.62525	0.179000	0.16840	-0.222000	0.09958	-0.793000	0.03317	AGA		0.557	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		8	179	0	0	0	1	0	8	179				
KMT2B	9757	broad.mit.edu	37	19	36216480	36216480	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:36216480G>A	ENST00000222270.7	+	12	3743	c.3743G>A	c.(3742-3744)cGc>cAc	p.R1248H	KMT2B_ENST00000420124.1_Missense_Mutation_p.R1248H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1248					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)										TGCTGCCGTCGCTGCAAATTC	0.632																																						ENST00000222270.7																			0											c.(3742-3744)cGc>cAc									109.0	119.0	115.0					19																	36216480		2094	4204	6298	SO:0001583	missense	9757							g.chr19:36216480G>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.3743G>A	19.37:g.36216480G>A	ENSP00000222270:p.Arg1248His					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.R1248H	p.R1248H	NM_014727.1	NP_055542.1					12	3743	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3743G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543320	0.65198	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.87179	-2.22;-2.22	5.54	5.54	0.83059	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.45126	D	0.000383	D	0.91513	0.7320	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.91462	0.5190	10	0.62326	D	0.03	.	18.4191	0.90582	0.0:0.0:1.0:0.0	.	1248	Q9UMN6	MLL4_HUMAN	H	1248	ENSP00000222270:R1248H;ENSP00000398837:R1248H	ENSP00000222270:R1248H	R	+	2	0	AD000671.1	40908320	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.177000	0.77650	2.884000	0.98904	0.655000	0.94253	CGC		0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		63	169	0	0	0	1	0	63	169				
SIGLEC8	27181	broad.mit.edu	37	19	51961243	51961243	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:51961243C>G	ENST00000321424.3	-	1	465	c.399G>C	c.(397-399)tgG>tgC	p.W133C	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W133C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W133C|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	133					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.W133C(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATTTGTAACTCCATTTCATGC	0.502																																						ENST00000321424.3																			1	Substitution - Missense(1)	p.W133C(1)	kidney(1)	NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(397-399)tgG>tgC		sialic acid binding Ig-like lectin 8							122.0	123.0	122.0					19																	51961243		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961243C>G	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.399G>C	19.37:g.51961243C>G	ENSP00000321077:p.Trp133Cys					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W133C|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W133C	p.W133C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	465	-		all_neural(266;0.0199)	133					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.399G>C	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194411	0.22037	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.46063	0.88;0.88;1.96	2.56	-5.13	0.02884	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.059810	0.02660	U	0.107373	T	0.61400	0.2344	M	0.82923	2.615	0.09310	N	1	D;D;D	0.76494	0.992;0.999;0.999	P;P;D	0.66084	0.479;0.906;0.941	T	0.63607	-0.6599	10	0.72032	D	0.01	.	6.2222	0.20687	0.1992:0.5412:0.2596:0.0	.	133;133;133	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	133	ENSP00000389142:W133C;ENSP00000321077:W133C;ENSP00000339448:W133C	ENSP00000321077:W133C	W	-	3	0	SIGLEC8	56653055	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.492000	0.22435	-1.417000	0.02017	0.398000	0.26397	TGG		0.502	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		5	164	0	0	0	1	0	5	164				
ZNF606	80095	broad.mit.edu	37	19	58489953	58489953	+	Missense_Mutation	SNP	G	G	A	rs200784321		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:58489953G>A	ENST00000341164.4	-	7	2715	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	ZNF606_ENST00000536132.1_Missense_Mutation_p.R609W	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	699					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGAGTTCTCCGGTGTGCAATG	0.408																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2095-2097)Cgg>Tgg		zinc finger protein 606		G	TRP/ARG	0,4406		0,0,2203	96.0	97.0	97.0		2095	2.2	1.0	19		97	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF606	NM_025027.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	699/793	58489953	2,13004	2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58489953G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2095C>T	19.37:g.58489953G>A	ENSP00000343617:p.Arg699Trp					ZNF606_ENST00000536132.1_Missense_Mutation_p.R609W	p.R699W	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2715	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	699					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.2095C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288808	0.40494	0.0	2.33E-4	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.07688	3.17;3.17	4.43	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.372399	0.19929	N	0.102902	T	0.20941	0.0504	M	0.64997	1.995	0.30062	N	0.810837	D	0.89917	1.0	D	0.70935	0.971	T	0.02282	-1.1183	10	0.52906	T	0.07	.	8.8273	0.35063	0.0:0.1444:0.5585:0.2972	.	699	Q8WXB4	ZN606_HUMAN	W	699;609	ENSP00000343617:R699W;ENSP00000445624:R609W	ENSP00000343617:R699W	R	-	1	2	ZNF606	63181765	0.008000	0.16893	1.000000	0.80357	0.997000	0.91878	0.581000	0.23819	0.559000	0.29153	0.561000	0.74099	CGG		0.408	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		20	72	0	0	0	1	0	20	72				
INTS4L2	644619	broad.mit.edu	37	7	65154392	65154392	+	RNA	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:65154392C>T	ENST00000430126.2	+	0	876							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		ACCAAGTACCCTACTGATAGG	0.408																																						ENST00000430126.2																			0																																																			644619							g.chr7:65154392C>T	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65154392C>T														0	876	+									RNA	SNP	ENST00000430126.2	37																																																																																						0.408	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		11	31	0	0	0	1	0	11	31				
GANAB	23193	broad.mit.edu	37	11	62398117	62398117	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:62398117G>C	ENST00000356638.3	-	11	1358	c.1342C>G	c.(1342-1344)Cag>Gag	p.Q448E	GANAB_ENST00000534779.1_Missense_Mutation_p.Q356E|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Missense_Mutation_p.Q351E|GANAB_ENST00000346178.4_Missense_Mutation_p.Q470E	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	448					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTGCGGGGCTGAGGGAAGCGA	0.547																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1408-1410)Cag>Gag		glucosidase, alpha; neutral AB							75.0	73.0	74.0					11																	62398117		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62398117G>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1342C>G	11.37:g.62398117G>C	ENSP00000349053:p.Gln448Glu					GANAB_ENST00000534779.1_Missense_Mutation_p.Q356E|GANAB_ENST00000356638.3_Missense_Mutation_p.Q448E|GANAB_ENST00000540933.1_Missense_Mutation_p.Q351E	p.Q470E	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			12	1423	-			448					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1408C>G	CCDS8026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.61|11.61	1.689458|1.689458	0.29962|0.29962	.|.	.|.	ENSG00000089597|ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933|ENST00000540002	D;D;D;D|.	0.91894|.	-2.93;-2.93;-2.93;-2.93|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Glycoside hydrolase, superfamily (1);|.	0.505382|.	0.22522|.	N|.	0.058955|.	T|.	0.24198|.	0.0586|.	N|N	0.04275|0.04275	-0.24|-0.24	0.31739|0.31739	N|N	0.636002|0.636002	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.001;0.0;0.001|.	T|.	0.18555|.	-1.0333|.	10|.	0.44086|.	T|.	0.13|.	-10.535|-10.535	11.6511|11.6511	0.51290|0.51290	0.0:0.0:0.8233:0.1767|0.0:0.0:0.8233:0.1767	.|.	334;356;448;470|.	B4DIW2;E9PKU7;Q14697;Q14697-2|.	.;.;GANAB_HUMAN;.|.	E|X	470;448;356;351|33	ENSP00000340466:Q470E;ENSP00000349053:Q448E;ENSP00000435306:Q356E;ENSP00000442962:Q351E|.	ENSP00000340466:Q470E|.	Q|S	-|-	1|2	0|0	GANAB|GANAB	62154693|62154693	0.021000|0.021000	0.18746|0.18746	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.261000|0.261000	0.18442|0.18442	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		9	50	0	0	0	1	0	9	50				
ODF2	4957	broad.mit.edu	37	9	131256853	131256853	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:131256853C>T	ENST00000434106.3	+	17	2180	c.1817C>T	c.(1816-1818)aCg>aTg	p.T606M	ODF2_ENST00000372791.3_Missense_Mutation_p.T587M|ODF2_ENST00000546203.1_Missense_Mutation_p.T587M|ODF2_ENST00000448249.3_Missense_Mutation_p.T525M|ODF2_ENST00000351030.3_Missense_Mutation_p.T601M|ODF2_ENST00000372807.5_Missense_Mutation_p.T601M|ODF2_ENST00000604420.1_Missense_Mutation_p.T606M|ODF2_ENST00000372814.3_Missense_Mutation_p.T650M|ODF2_ENST00000393533.2_Missense_Mutation_p.T606M|ODF2_ENST00000444119.2_Missense_Mutation_p.T582M|ODF2_ENST00000393527.3_Missense_Mutation_p.T582M	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	606					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTGAAGATCACGGAGGCGAAG	0.567																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1744-1746)aCg>aTg		outer dense fiber of sperm tails 2							68.0	59.0	62.0					9																	131256853		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131256853C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1817C>T	9.37:g.131256853C>T	ENSP00000403453:p.Thr606Met					ODF2_ENST00000393533.2_Missense_Mutation_p.T606M|ODF2_ENST00000372791.3_Missense_Mutation_p.T587M|ODF2_ENST00000448249.3_Missense_Mutation_p.T525M|ODF2_ENST00000434106.2_Missense_Mutation_p.T606M|ODF2_ENST00000546203.1_Missense_Mutation_p.T587M|ODF2_ENST00000372807.5_Missense_Mutation_p.T601M|ODF2_ENST00000351030.3_Missense_Mutation_p.T601M|ODF2_ENST00000444119.2_Missense_Mutation_p.T582M|ODF2_ENST00000372796.4_Missense_Mutation_p.T606M|ODF2_ENST00000372814.3_Missense_Mutation_p.T650M	p.T582M	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			19	2330	+			606					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1745C>T	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958229	0.73902	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;T;T;T;D;T;T	0.82526	1.22;-1.62;-0.24;-0.24;-0.24;-1.62;1.27;1.28	5.4	5.4	0.78164	.	0.161807	0.56097	D	0.000039	D	0.83046	0.5169	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D;D	0.63880	0.991;0.973;0.991;0.993;0.991;0.986;0.984	P;P;P;P;P;P;P	0.51945	0.502;0.463;0.658;0.606;0.502;0.685;0.463	T	0.79818	-0.1643	10	0.21540	T	0.41	-11.0689	13.4965	0.61428	0.0:0.9225:0.0:0.0775	.	587;601;525;606;587;606;582	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	M	606;650;601;606;582;525;587;587	ENSP00000377166:T606M;ENSP00000361901:T650M;ENSP00000342581:T601M;ENSP00000361882:T606M;ENSP00000307781:T582M;ENSP00000396687:T525M;ENSP00000437579:T587M;ENSP00000361877:T587M	ENSP00000307781:T582M	T	+	2	0	ODF2	130296674	0.988000	0.35896	0.955000	0.39395	0.983000	0.72400	2.838000	0.48199	2.532000	0.85374	0.561000	0.74099	ACG		0.567	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			33	70	0	0	0	1	0	33	70				
SOGA1	140710	broad.mit.edu	37	20	35443662	35443662	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:35443662G>A	ENST00000357779.3	-	5	1795	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	SOGA1_ENST00000237536.4_Missense_Mutation_p.T728M|SOGA1_ENST00000456801.2_Missense_Mutation_p.T331M|SOGA1_ENST00000279034.6_Missense_Mutation_p.T490M			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	490					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGCCTTCCGCGTGAAGGCATT	0.622																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2182-2184)aCg>aTg		suppressor of glucose, autophagy associated 1							58.0	66.0	63.0					20																	35443662		2197	4297	6494	SO:0001583	missense	140710							g.chr20:35443662G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1469C>T	20.37:g.35443662G>A	ENSP00000350424:p.Thr490Met					SOGA1_ENST00000279034.5_Missense_Mutation_p.T490M|SOGA1_ENST00000456801.2_Missense_Mutation_p.T331M|SOGA1_ENST00000357779.3_Missense_Mutation_p.T490M	p.T728M	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2524	-			490					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2183C>T		.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204331	0.01568	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.17213	2.29;2.31;2.31;2.31	5.04	2.86	0.33363	.	0.558404	0.19662	N	0.108947	T	0.08802	0.0218	N	0.22421	0.69	0.21553	N	0.999641	P	0.46277	0.875	B	0.35312	0.2	T	0.20706	-1.0267	10	0.44086	T	0.13	-4.6921	7.4015	0.26967	0.2889:0.0:0.7111:0.0	.	490	O94964-4	.	M	728;490;331;490	ENSP00000237536:T728M;ENSP00000279034:T490M;ENSP00000413886:T331M;ENSP00000350424:T490M	ENSP00000237536:T728M	T	-	2	0	KIAA0889	34877076	0.972000	0.33761	0.301000	0.25044	0.059000	0.15707	2.170000	0.42443	1.265000	0.44215	-0.367000	0.07326	ACG		0.622	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		33	97	0	0	0	1	0	33	97				
REV3L	5980	broad.mit.edu	37	6	111628751	111628751	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:111628751G>A	ENST00000358835.3	-	32	9519	c.9065C>T	c.(9064-9066)tCg>tTg	p.S3022L	REV3L_ENST00000368802.3_Missense_Mutation_p.S3022L|REV3L_ENST00000435970.1_Missense_Mutation_p.S2944L|REV3L_ENST00000368805.1_Missense_Mutation_p.S3022L|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000462119.1_5'UTR			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3022					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCACTTCGCGAGGAGCTGGT	0.423								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(8830-8832)tCg>tTg	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							94.0	87.0	89.0					6																	111628751		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111628751G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9065C>T	6.37:g.111628751G>A	ENSP00000351697:p.Ser3022Leu					REV3L_ENST00000368805.1_Missense_Mutation_p.S3022L|REV3L_ENST00000358835.3_Missense_Mutation_p.S3022L|REV3L_ENST00000368802.3_Missense_Mutation_p.S3022L|REV3L_ENST00000462119.1_5'UTR	p.S2944L			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	33	9647	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	3022					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8831C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281425	0.59758	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01538	4.88;4.88;4.88;4.79	5.7	5.7	0.88788	.	0.222655	0.37761	N	0.001945	T	0.01029	0.0034	L	0.28192	0.835	0.40004	D	0.975202	B	0.02656	0.0	B	0.04013	0.001	T	0.62923	-0.6751	10	0.35671	T	0.21	-5.5986	19.8309	0.96634	0.0:0.0:1.0:0.0	.	3022	O60673	DPOLZ_HUMAN	L	3022;3022;3022;2944	ENSP00000357792:S3022L;ENSP00000357795:S3022L;ENSP00000351697:S3022L;ENSP00000402003:S2944L	ENSP00000351697:S3022L	S	-	2	0	REV3L	111735444	0.966000	0.33281	1.000000	0.80357	0.826000	0.46750	3.474000	0.53129	2.684000	0.91462	0.650000	0.86243	TCG		0.423	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		21	50	0	0	0	1	0	21	50				
SIDT1	54847	broad.mit.edu	37	3	113330987	113330987	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:113330987C>G	ENST00000264852.4	+	19	2638	c.1912C>G	c.(1912-1914)Ctg>Gtg	p.L638V	SIDT1_ENST00000393830.3_Missense_Mutation_p.L638V|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	638					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATCCACGTTCTGGCCTCGCT	0.418																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1912-1914)Ctg>Gtg		SID1 transmembrane family, member 1							118.0	110.0	112.0					3																	113330987		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113330987C>G	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1912C>G	3.37:g.113330987C>G	ENSP00000264852:p.Leu638Val					SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.L638V	p.L638V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			19	2638	+			638					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1912C>G	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348295	0.41599	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.25414	1.8;1.8	5.75	4.88	0.63580	.	0.000000	0.51477	D	0.000082	T	0.18215	0.0437	L	0.40543	1.245	0.40307	D	0.978679	B;B	0.14012	0.007;0.009	B;B	0.21360	0.02;0.034	T	0.10245	-1.0638	10	0.16896	T	0.51	-12.1906	6.3159	0.21190	0.0:0.5653:0.2753:0.1594	.	638;638	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	V	638	ENSP00000264852:L638V;ENSP00000377416:L638V	ENSP00000264852:L638V	L	+	1	2	SIDT1	114813677	0.296000	0.24398	0.995000	0.50966	0.991000	0.79684	0.766000	0.26560	1.441000	0.47550	0.655000	0.94253	CTG		0.418	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		15	45	0	0	0	1	0	15	45				
ALOXE3	59344	broad.mit.edu	37	17	8020224	8020224	+	Silent	SNP	G	G	A	rs572527913	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:8020224G>A	ENST00000448843.2	-	3	562	c.222C>T	c.(220-222)taC>taT	p.Y74Y	ALOXE3_ENST00000380149.1_Silent_p.Y230Y|ALOXE3_ENST00000318227.3_Silent_p.Y206Y	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	74	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGAAGAAAGCGTAGCGCTCCT	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		18579	0.0		0.0	False		,,,				2504	0.002					ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(688-690)taC>taT		arachidonate lipoxygenase 3							119.0	82.0	94.0					17																	8020224		2203	4300	6503	SO:0001819	synonymous_variant	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8020224G>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.222C>T	17.37:g.8020224G>A						ALOXE3_ENST00000448843.2_Silent_p.Y74Y|ALOXE3_ENST00000318227.3_Silent_p.Y206Y	p.Y230Y			Q9BYJ1	LOXE3_HUMAN			2	720	-			74			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Silent	SNP	ENST00000448843.2	37	c.690C>T	CCDS11130.1																																																																																				0.557	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			27	48	0	0	0	1	0	27	48				
SLC12A3	6559	broad.mit.edu	37	16	56904069	56904069	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:56904069C>T	ENST00000563236.1	+	5	688	c.663C>T	c.(661-663)ctC>ctT	p.L221L	SLC12A3_ENST00000438926.2_Silent_p.L221L|SLC12A3_ENST00000566786.1_Silent_p.L220L|SLC12A3_ENST00000262502.5_Silent_p.L220L			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	221					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCATCGGCCTCATTTTCGCTT	0.637																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(661-663)ctC>ctT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						72.0	72.0	72.0					16																	56904069		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904069C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.663C>T	16.37:g.56904069C>T						SLC12A3_ENST00000566786.1_Silent_p.L220L|SLC12A3_ENST00000563236.1_Silent_p.L221L|SLC12A3_ENST00000262502.5_Silent_p.L220L	p.L221L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			5	692	+			221					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.663C>T	CCDS58464.1																																																																																				0.637	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			34	95	0	0	0	1	0	34	95				
MCM3AP	8888	broad.mit.edu	37	21	47660785	47660785	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr21:47660785T>A	ENST00000397708.1	-	27	5827	c.5573A>T	c.(5572-5574)gAg>gTg	p.E1858V	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858V|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1858					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAGAGCTCCTCAGCAGAAGC	0.517																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5572-5574)gAg>gTg		minichromosome maintenance complex component 3 associated protein							144.0	135.0	138.0					21																	47660785		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660785T>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5573A>T	21.37:g.47660785T>A	ENSP00000380820:p.Glu1858Val					MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858V|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA	p.E1858V			O60318	MCM3A_HUMAN			27	5827	-	Breast(49;0.112)		1858					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5573A>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	7.196	0.592590	0.13875	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03860	3.78;3.78	5.46	1.65	0.23941	.	0.564234	0.18681	N	0.134149	T	0.03053	0.0090	N	0.24115	0.695	0.09310	N	1	B;B	0.31548	0.099;0.328	B;B	0.31101	0.024;0.124	T	0.40869	-0.9540	10	0.62326	D	0.03	-8.2272	2.7208	0.05200	0.1274:0.1041:0.1318:0.6367	.	1858;353	O60318;B3KT88	MCM3A_HUMAN;.	V	1858;1858;353	ENSP00000380820:E1858V;ENSP00000291688:E1858V	ENSP00000291688:E1858V	E	-	2	0	MCM3AP	46485213	0.060000	0.20803	0.392000	0.26245	0.030000	0.12068	0.237000	0.17985	0.378000	0.24764	0.528000	0.53228	GAG		0.517	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		7	153	0	0	0	1	0	7	153				
BCAS2	10286	broad.mit.edu	37	1	115110828	115110828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:115110828G>A	ENST00000369541.3	-	7	648	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	201					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTCTAGCTGAACAATAGTC	0.368																																						ENST00000369541.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13						c.(601-603)Cag>Tag		breast carcinoma amplified sequence 2							170.0	162.0	165.0					1																	115110828		2203	4300	6503	SO:0001587	stop_gained	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115110828G>A	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.601C>T	1.37:g.115110828G>A	ENSP00000358554:p.Gln201*					BCAS2_ENST00000485021.1_5'UTR	p.Q201*	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	648	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	201					Q6FGS0	Nonsense_Mutation	SNP	ENST00000369541.3	37	c.601C>T	CCDS874.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457696	0.84317	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.0892	19.8805	0.96895	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000358554:Q201X	Q	-	1	0	BCAS2	114912351	1.000000	0.71417	0.955000	0.39395	0.913000	0.54294	9.346000	0.97056	2.778000	0.95560	0.655000	0.94253	CAG		0.368	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		39	107	0	0	0	1	0	39	107				
SMOC1	64093	broad.mit.edu	37	14	70418920	70418920	+	Silent	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:70418920C>A	ENST00000381280.4	+	2	418	c.165C>A	c.(163-165)atC>atA	p.I55I	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.I55I	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	55	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAAACCCATCTGTGCCTCTG	0.537																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(163-165)atC>atA		SPARC related modular calcium binding 1							139.0	125.0	130.0					14																	70418920		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70418920C>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.165C>A	14.37:g.70418920C>A						SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.I55I	p.I55I	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	2	418	+			55			Kazal-like.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.165C>A	CCDS9798.1																																																																																				0.537	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			46	102	1	0	1.41504e-22	1	1.51829e-22	46	102				
ADAM28	10863	broad.mit.edu	37	8	24207413	24207413	+	Missense_Mutation	SNP	C	C	T	rs139883608		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:24207413C>T	ENST00000265769.4	+	19	2137	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	ADAM28_ENST00000397649.3_Silent_p.G424G|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	676					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)	p.A676V(1)		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)		TTCCCAATGGCGGTCATTTTT	0.502																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - Missense(1)	p.A676V(1)	large_intestine(1)	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.(2026-2028)gCg>gTg		ADAM metallopeptidase domain 28							182.0	174.0	177.0					8																	24207413		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24207413C>T	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.2027C>T	8.37:g.24207413C>T	ENSP00000265769:p.Ala676Val					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G424G|RP11-624C23.1_ENST00000518988.1_RNA	p.A676V	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)	19	2137	+		Prostate(55;0.0959)	676					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.2027C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	8.293	0.818255	0.16607	.	.	ENSG00000042980	ENST00000265769	T	0.01474	4.85	5.34	4.47	0.54385	.	.	.	.	.	T	0.03011	0.0089	L	0.34521	1.04	0.34200	D	0.673083	D;D	0.71674	0.998;0.998	P;P	0.54238	0.746;0.746	T	0.56523	-0.7965	9	0.13470	T	0.59	.	10.2991	0.43642	0.0:0.9086:0.0:0.0914	.	676;676	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	V	676	ENSP00000265769:A676V	ENSP00000265769:A676V	A	+	2	0	ADAM28	24263358	0.973000	0.33851	0.580000	0.28601	0.012000	0.07955	3.747000	0.55134	1.408000	0.46895	-0.417000	0.06048	GCG		0.502	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		41	140	0	0	0	1	0	41	140				
SEC61A2	55176	broad.mit.edu	37	10	12191690	12191690	+	Missense_Mutation	SNP	C	C	T	rs146484607		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:12191690C>T	ENST00000298428.9	+	5	406	c.317C>T	c.(316-318)cCg>cTg	p.P106L	SEC61A2_ENST00000379020.4_Missense_Mutation_p.P106L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379051.1_Missense_Mutation_p.P106L|SEC61A2_ENST00000379033.3_Missense_Mutation_p.P84L|SEC61A2_ENST00000304267.8_Missense_Mutation_p.P106L|SEC61A2_ENST00000379017.3_Missense_Mutation_p.P106L	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	106					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGAGATACACCGAAAGATAGA	0.393																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(250-252)cCg>cTg		Sec61 alpha 2 subunit (S. cerevisiae)		C	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	138.0	127.0	131.0		317,251,317	5.6	1.0	10	dbSNP_134	131	0,8600		0,0,4300	no	missense,missense,missense	SEC61A2	NM_001142627.1,NM_001142628.1,NM_018144.3	98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	106/438,84/455,106/477	12191690	1,13005	2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12191690C>T	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.317C>T	10.37:g.12191690C>T	ENSP00000298428:p.Pro106Leu					SEC61A2_ENST00000379020.4_Missense_Mutation_p.P106L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.P106L|SEC61A2_ENST00000304267.8_Missense_Mutation_p.P106L|SEC61A2_ENST00000379051.1_Missense_Mutation_p.P106L|SEC61A2_ENST00000298428.9_Missense_Mutation_p.P106L	p.P84L	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			4	398	+		Renal(717;0.228)	106					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.251C>T	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.60|13.60	2.284851|2.284851	0.40394|0.40394	2.27E-4|2.27E-4	0.0|0.0	ENSG00000065665|ENSG00000065665	ENST00000379051;ENST00000379033;ENST00000441368;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000379017|ENST00000457034	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|.	0.27798|.	0.0684|.	N|N	0.00841|0.00841	-1.15|-1.15	0.80722|0.80722	D|D	1|1	B;B;B|.	0.10296|.	0.0;0.003;0.0|.	B;B;B|.	0.09377|.	0.001;0.004;0.002|.	T|.	0.37150|.	-0.9718|.	9|.	0.44086|.	T|.	0.13|.	-12.294|-12.294	18.5499|18.5499	0.91060|0.91060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	84;106;106|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	L|X	106;84;106;106;106;106;106|80	.|.	ENSP00000298428:P106L|.	P|R	+|+	2|1	0|2	SEC61A2|SEC61A2	12231696|12231696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	7.792000|7.792000	0.85828|0.85828	2.616000|2.616000	0.88540|0.88540	0.467000|0.467000	0.42956|0.42956	CCG|CGA		0.393	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		18	87	0	0	0	1	0	18	87				
MCU	90550	broad.mit.edu	37	10	74620268	74620268	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:74620268T>C	ENST00000373053.3	+	4	500	c.479T>C	c.(478-480)gTa>gCa	p.V160A	MCU_ENST00000536019.1_Missense_Mutation_p.V111A|MCU_ENST00000357157.6_Missense_Mutation_p.V160A	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	160					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ACATACCACGTACGACCACCA	0.398																																						ENST00000536019.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(331-333)gTa>gCa		mitochondrial calcium uniporter							116.0	106.0	109.0					10																	74620268		2203	4300	6503	SO:0001583	missense	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74620268T>C	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.479T>C	10.37:g.74620268T>C	ENSP00000362144:p.Val160Ala					MCU_ENST00000357157.6_Missense_Mutation_p.V160A|MCU_ENST00000373053.3_Missense_Mutation_p.V160A	p.V111A	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN			4	777	+			160					B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	c.332T>C	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932520	0.92458	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.42900	1.02;0.96;1.06	5.69	5.69	0.88448	Coiled-coil domain containing protein 109, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.85373	2.75	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.76575	0.979;0.987;0.988	T	0.74737	-0.3564	10	0.87932	D	0	-11.3171	15.9469	0.79802	0.0:0.0:0.0:1.0	.	160;111;160	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	A	160;160;111	ENSP00000362144:V160A;ENSP00000349680:V160A;ENSP00000440913:V111A	ENSP00000349680:V160A	V	+	2	0	MCU	74290274	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.040000	0.89188	2.170000	0.68504	0.528000	0.53228	GTA		0.398	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		25	59	0	0	0	1	0	25	59				
ZNF518B	85460	broad.mit.edu	37	4	10447434	10447434	+	Silent	SNP	C	C	T	rs111972960		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:10447434C>T	ENST00000326756.3	-	3	957	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	173					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTCTCCTTTCGTATACGAAA	0.398																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(517-519)acG>acA		zinc finger protein 518B							127.0	128.0	128.0					4																	10447434		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447434C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.519G>A	4.37:g.10447434C>T							p.T173T	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	957	-			173					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.519G>A	CCDS33960.1																																																																																				0.398	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		4	132	0	0	0	1	0	4	132				
MCM3AP	8888	broad.mit.edu	37	21	47660829	47660829	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr21:47660829C>T	ENST00000397708.1	-	27	5783	c.5529G>A	c.(5527-5529)ggG>ggA	p.G1843G	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.G1843G|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1843					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGGAATCCTCCCCTCTTGAG	0.502																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5527-5529)ggG>ggA		minichromosome maintenance complex component 3 associated protein							168.0	151.0	157.0					21																	47660829		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660829C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5529G>A	21.37:g.47660829C>T						MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.G1843G|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA	p.G1843G			O60318	MCM3A_HUMAN			27	5783	-	Breast(49;0.112)		1843					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.5529G>A	CCDS13734.1																																																																																				0.502	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		5	163	0	0	0	1	0	5	163				
CLEC3A	10143	broad.mit.edu	37	16	78062034	78062034	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:78062034A>G	ENST00000575655.1	+	2	227	c.146A>G	c.(145-147)gAa>gGa	p.E49G	CLEC3A_ENST00000299642.4_Missense_Mutation_p.E58G|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	49					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ACTCAAATTGAAAAGCTCTGG	0.438																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(172-174)gAa>gGa		C-type lectin domain family 3, member A							89.0	86.0	87.0					16																	78062034		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78062034A>G	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.146A>G	16.37:g.78062034A>G	ENSP00000460682:p.Glu49Gly					CLEC3A_ENST00000575655.1_Missense_Mutation_p.E49G|RP11-281J9.2_ENST00000563114.1_RNA	p.E58G	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			2	258	+			49					B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.173A>G		.	.	.	.	.	.	.	.	.	.	A	18.33	3.600388	0.66332	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.84	5.84	0.93424	.	0.098165	0.64402	D	0.000001	T	0.46229	0.1382	L	0.29908	0.895	0.54753	D	0.999987	P	0.46395	0.877	B	0.43360	0.417	T	0.44620	-0.9316	9	0.44086	T	0.13	-29.1785	15.8778	0.79180	1.0:0.0:0.0:0.0	.	49	O75596	CLC3A_HUMAN	G	49	.	ENSP00000299642:E49G	E	+	2	0	CLEC3A	76619535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.909000	0.75735	2.235000	0.73313	0.459000	0.35465	GAA		0.438	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		31	70	0	0	0	1	0	31	70				
ARMCX6	54470	broad.mit.edu	37	X	100871295	100871295	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:100871295G>C	ENST00000361910.4	-	3	660	c.316C>G	c.(316-318)Ccc>Gcc	p.P106A	ARMCX6_ENST00000538627.1_Missense_Mutation_p.P106A|ARMCX6_ENST00000539247.1_Missense_Mutation_p.P106A|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	106						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGTTCATAGGGGAATGGCCGC	0.502																																						ENST00000539247.1																			0				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						c.(316-318)Ccc>Gcc		armadillo repeat containing, X-linked 6							105.0	104.0	104.0					X																	100871295		2203	4300	6503	SO:0001583	missense	54470					integral to membrane		g.chrX:100871295G>C	BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.316C>G	X.37:g.100871295G>C	ENSP00000354708:p.Pro106Ala					ARMCX6_ENST00000361910.4_Missense_Mutation_p.P106A|ARMCX6_ENST00000538627.1_Missense_Mutation_p.P106A|ARMCX6_ENST00000497931.1_Intron	p.P106A	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN			4	748	-			106					Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	37	c.316C>G	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	16.04	3.009507	0.54361	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.69685	-0.42;-0.42;-0.42	3.56	3.56	0.40772	.	0.000000	0.42682	D	0.000671	T	0.77598	0.4154	M	0.69823	2.125	0.33372	D	0.573722	D	0.89917	1.0	D	0.87578	0.998	T	0.82174	-0.0588	10	0.49607	T	0.09	-7.809	9.7811	0.40649	0.0:0.0:1.0:0.0	.	106	Q7L4S7	ARMX6_HUMAN	A	106	ENSP00000354708:P106A;ENSP00000444537:P106A;ENSP00000440648:P106A	ENSP00000354708:P106A	P	-	1	0	ARMCX6	100757951	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	3.813000	0.55636	2.056000	0.61249	0.472000	0.43445	CCC		0.502	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	NM_019007		7	118	0	0	0	1	0	7	118				
MARK2	2011	broad.mit.edu	37	11	63662785	63662785	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:63662785C>T	ENST00000509502.2	+	2	573	c.110C>T	c.(109-111)gCc>gTc	p.A37V	MARK2_ENST00000502399.3_Missense_Mutation_p.A70V|MARK2_ENST00000350490.7_Missense_Mutation_p.A70V|MARK2_ENST00000377809.4_Missense_Mutation_p.A70V|MARK2_ENST00000508192.1_Missense_Mutation_p.A70V|MARK2_ENST00000361128.5_Missense_Mutation_p.A70V|MARK2_ENST00000402010.2_Missense_Mutation_p.A70V|MARK2_ENST00000425897.2_Missense_Mutation_p.A37V|MARK2_ENST00000315032.8_Missense_Mutation_p.A70V|MARK2_ENST00000413835.2_Missense_Mutation_p.A70V|MARK2_ENST00000377810.3_Missense_Mutation_p.A37V|MARK2_ENST00000408948.3_Missense_Mutation_p.A37V|MARK2_ENST00000513765.2_Missense_Mutation_p.A37V	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAGTTGGCCCGACACATC	0.577																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(208-210)gCc>gTc		MAP/microtubule affinity-regulating kinase 2							83.0	78.0	80.0					11																	63662785		2201	4298	6499	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63662785C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.110C>T	11.37:g.63662785C>T	ENSP00000423974:p.Ala37Val					MARK2_ENST00000408948.3_Missense_Mutation_p.A37V|MARK2_ENST00000425897.2_Missense_Mutation_p.A37V|MARK2_ENST00000413835.2_Missense_Mutation_p.A70V|MARK2_ENST00000502399.3_Missense_Mutation_p.A70V|MARK2_ENST00000350490.7_Missense_Mutation_p.A70V|MARK2_ENST00000361128.5_Missense_Mutation_p.A70V|MARK2_ENST00000315032.8_Missense_Mutation_p.A70V|MARK2_ENST00000377810.3_Missense_Mutation_p.A37V|MARK2_ENST00000513765.2_Missense_Mutation_p.A37V|MARK2_ENST00000377809.4_Missense_Mutation_p.A70V|MARK2_ENST00000509502.2_Missense_Mutation_p.A37V|MARK2_ENST00000508192.1_Missense_Mutation_p.A70V	p.A70V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			2	788	+			70			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.209C>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621746	0.96660	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.33668	1.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0;0.999	D;D;D;D;D;D	0.81914	0.995;0.992;0.988;0.99;0.994;0.985	T	0.41070	-0.9529	10	0.87932	D	0	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	37;37;70;70;70;70	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	V	70;70;70;70;37;70;70;70;70;37;37;37;37;37;37	ENSP00000385751:A70V;ENSP00000326632:A70V;ENSP00000367040:A70V;ENSP00000389184:A70V;ENSP00000367041:A37V;ENSP00000425765:A70V;ENSP00000355091:A70V;ENSP00000294247:A70V;ENSP00000444956:A37V;ENSP00000437509:A37V;ENSP00000423974:A37V;ENSP00000421075:A37V;ENSP00000386128:A37V;ENSP00000415494:A37V	ENSP00000326632:A70V	A	+	2	0	MARK2	63419361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.441000	0.80485	2.884000	0.98904	0.655000	0.94253	GCC		0.577	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		4	98	0	0	0	1	0	4	98				
GMPPB	29925	broad.mit.edu	37	3	49755598	49755598	+	3'UTR	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:49755598G>A	ENST00000480687.1	-	0	4786				AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.S434L			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGAGTACTGAGGACTGTGC	0.692																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1300-1302)tCa>tTa		adhesion molecule with Ig-like domain 3							82.0	75.0	77.0					3																	49755598		2203	4299	6502	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755598G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3587C>T	3.37:g.49755598G>A						AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron	p.S434L			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4751	-			434					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.1301C>T	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539234	0.65085	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.65732	-0.17;-0.17	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	L	0.61387	1.9	0.80722	D	1	D	0.53312	0.959	P	0.46076	0.503	T	0.72364	-0.4316	10	0.87932	D	0	-16.471	17.4762	0.87659	0.0:0.0:1.0:0.0	.	434	Q86WK7	AMGO3_HUMAN	L	434	ENSP00000323096:S434L;ENSP00000439268:S434L	ENSP00000323096:S434L	S	-	2	0	AMIGO3	49730602	1.000000	0.71417	0.948000	0.38648	0.072000	0.16883	7.862000	0.87013	2.490000	0.84030	0.561000	0.74099	TCA		0.692	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		8	233	0	0	0	1	0	8	233				
ATP1A4	480	broad.mit.edu	37	1	160134055	160134055	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:160134055C>T	ENST00000368081.4	+	7	1359	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	296					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.I296I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGAGATCGAACACTTCA	0.542																																						ENST00000368081.4																			1	Substitution - coding silent(1)	p.I296I(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(886-888)atC>atT		ATPase, Na+/K+ transporting, alpha 4 polypeptide							274.0	218.0	237.0					1																	160134055		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134055C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.888C>T	1.37:g.160134055C>T							p.I296I	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1359	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		296					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.888C>T	CCDS1197.1																																																																																				0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		10	185	0	0	0	1	0	10	185				
TCP11L1	55346	broad.mit.edu	37	11	33076194	33076194	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:33076194C>T	ENST00000334274.4	+	3	619	c.219C>T	c.(217-219)gtC>gtT	p.V73V	TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000531632.2_Silent_p.V73V|TCP11L1_ENST00000432887.1_Silent_p.V73V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	73						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CGAGAGGTGTCACCAACATGG	0.418																																						ENST00000334274.4																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(217-219)gtC>gtT		t-complex 11, testis-specific-like 1							123.0	123.0	123.0					11																	33076194		2202	4298	6500	SO:0001819	synonymous_variant	55346							g.chr11:33076194C>T	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.219C>T	11.37:g.33076194C>T						TCP11L1_ENST00000432887.1_Silent_p.V73V|TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000531632.2_Silent_p.V73V	p.V73V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN			3	619	+			73					D3DR01|Q8IVX4	Silent	SNP	ENST00000334274.4	37	c.219C>T	CCDS7882.1																																																																																				0.418	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		37	101	0	0	0	1	0	37	101				
DIP2C	22982	broad.mit.edu	37	10	408579	408579	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:408579G>T	ENST00000280886.6	-	22	2732	c.2645C>A	c.(2644-2646)gCa>gAa	p.A882E	DIP2C_ENST00000540204.1_Missense_Mutation_p.A203E|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	882						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)		GAGGGTGTTTGCTGGCACCAA	0.443																																						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.(2644-2646)gCa>gAa		DIP2 disco-interacting protein 2 homolog C (Drosophila)							80.0	87.0	85.0					10																	408579		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:408579G>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.2645C>A	10.37:g.408579G>T	ENSP00000280886:p.Ala882Glu					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.A203E	p.A882E	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)	22	2732	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	882					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2645C>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763214	0.89932	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.37411	1.2;1.2	5.53	5.53	0.82687	.	0.055068	0.64402	D	0.000001	T	0.58779	0.2146	M	0.84585	2.705	0.80722	D	1	D;B	0.56287	0.975;0.302	P;B	0.52598	0.703;0.14	T	0.66340	-0.5948	10	0.72032	D	0.01	-25.2348	19.4792	0.95002	0.0:0.0:1.0:0.0	.	203;882	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	E	882;203	ENSP00000280886:A882E;ENSP00000443826:A203E	ENSP00000280886:A882E	A	-	2	0	DIP2C	398579	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.863000	0.87023	2.598000	0.87819	0.460000	0.39030	GCA		0.443	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		18	70	1	0	1.33834e-09	1	1.40561e-09	18	70				
MCM3AP	8888	broad.mit.edu	37	21	47660786	47660786	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr21:47660786C>T	ENST00000397708.1	-	27	5826	c.5572G>A	c.(5572-5574)Gag>Aag	p.E1858K	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858K|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1858					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAGAGCTCCTCAGCAGAAGCT	0.512																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5572-5574)Gag>Aag		minichromosome maintenance complex component 3 associated protein							145.0	136.0	139.0					21																	47660786		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660786C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5572G>A	21.37:g.47660786C>T	ENSP00000380820:p.Glu1858Lys					MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858K|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA	p.E1858K			O60318	MCM3A_HUMAN			27	5826	-	Breast(49;0.112)		1858					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5572G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	6.376	0.437478	0.12104	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03553	3.89;3.89	5.46	2.51	0.30379	.	0.564234	0.18681	N	0.134149	T	0.02571	0.0078	N	0.24115	0.695	0.09310	N	1	B;B	0.31548	0.099;0.328	B;B	0.31101	0.027;0.124	T	0.47045	-0.9147	10	0.27082	T	0.32	-8.2272	6.1599	0.20358	0.1091:0.3261:0.4831:0.0817	.	1858;353	O60318;B3KT88	MCM3A_HUMAN;.	K	1858;1858;353	ENSP00000380820:E1858K;ENSP00000291688:E1858K	ENSP00000291688:E1858K	E	-	1	0	MCM3AP	46485214	0.025000	0.19082	0.336000	0.25522	0.025000	0.11179	0.216000	0.17585	0.655000	0.30866	0.650000	0.86243	GAG		0.512	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		7	153	0	0	0	1	0	7	153				
HIPK3	10114	broad.mit.edu	37	11	33373367	33373367	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:33373367C>T	ENST00000303296.4	+	15	3326	c.3021C>T	c.(3019-3021)gcC>gcT	p.A1007A	HIPK3_ENST00000379016.3_Silent_p.A986A|HIPK3_ENST00000525975.1_Silent_p.A986A|HIPK3_ENST00000456517.1_Silent_p.A986A|AL122015.1_ENST00000411202.1_RNA	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1007	Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GCTTAAATGCCGATGAGCATA	0.433																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3019-3021)gcC>gcT		homeodomain interacting protein kinase 3							83.0	66.0	72.0					11																	33373367		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373367C>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3021C>T	11.37:g.33373367C>T						HIPK3_ENST00000379016.3_Silent_p.A986A|HIPK3_ENST00000525975.1_Silent_p.A986A|HIPK3_ENST00000456517.1_Silent_p.A986A	p.A1007A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			15	3326	+			1007			Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.3021C>T	CCDS7884.1																																																																																				0.433	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		7	32	0	0	0	1	0	7	32				
PAK1	5058	broad.mit.edu	37	11	77091019	77091019	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:77091019C>G	ENST00000356341.3	-	3	742	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	PAK1_ENST00000528203.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.E71Q|PAK1_ENST00000530617.1_Missense_Mutation_p.E71Q	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	71	Autoregulatory region.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TCTGGCCGCTCTTTCTCTTTC	0.388																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(211-213)Gag>Cag		p21 protein (Cdc42/Rac)-activated kinase 1							73.0	74.0	74.0					11																	77091019		2200	4292	6492	SO:0001583	missense	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77091019C>G	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.211G>C	11.37:g.77091019C>G	ENSP00000348696:p.Glu71Gln					PAK1_ENST00000530617.1_Missense_Mutation_p.E71Q|PAK1_ENST00000528203.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.E71Q	p.E71Q	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			3	742	-	all_cancers(14;1.75e-18)		71			Autoregulatory region.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	c.211G>C	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681854	0.88542	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847;ENST00000528592	T;T;T	0.71698	-0.56;-0.59;-0.59	5.17	5.17	0.71159	.	0.091849	0.85682	D	0.000000	T	0.81288	0.4791	M	0.73962	2.25	0.80722	D	1	P;P;P	0.47484	0.834;0.588;0.896	P;B;P	0.54270	0.459;0.439;0.747	T	0.82713	-0.0321	10	0.56958	D	0.05	.	19.0376	0.92985	0.0:1.0:0.0:0.0	.	71;71;71	B3KNX7;Q13153;Q13153-2	.;PAK1_HUMAN;.	Q	71	ENSP00000348696:E71Q;ENSP00000433423:E71Q;ENSP00000278568:E71Q	ENSP00000278568:E71Q	E	-	1	0	PAK1	76768667	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.021000	0.70832	2.578000	0.87016	0.563000	0.77884	GAG		0.388	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		4	61	0	0	0	1	0	4	61				
LINGO2	158038	broad.mit.edu	37	9	27949845	27949845	+	Silent	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:27949845C>G	ENST00000379992.2	-	6	1274	c.825G>C	c.(823-825)ctG>ctC	p.L275L	LINGO2_ENST00000308675.3_Silent_p.L275L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	275						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAAGGTGAGTCAGGTATACCA	0.502																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(823-825)ctG>ctC		leucine rich repeat and Ig domain containing 2							240.0	220.0	227.0					9																	27949845		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27949845C>G	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.825G>C	9.37:g.27949845C>G						LINGO2_ENST00000308675.3_Silent_p.L275L	p.L275L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1274	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	275					A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.825G>C	CCDS6524.1																																																																																				0.502	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		29	176	0	0	0	1	0	29	176				
BCL9L	283149	broad.mit.edu	37	11	118770865	118770865	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:118770865G>A	ENST00000334801.3	-	7	4131	c.3167C>T	c.(3166-3168)cCt>cTt	p.P1056L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1056	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTTGGCGGGAGGTGCTGAGGA	0.632																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3166-3168)cCt>cTt		B-cell CLL/lymphoma 9-like							56.0	59.0	58.0					11																	118770865		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770865G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3167C>T	11.37:g.118770865G>A	ENSP00000335320:p.Pro1056Leu					BCL9L_ENST00000526143.1_5'UTR	p.P1056L	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4131	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1056			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3167C>T	CCDS8403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.045106|4.045106	0.75846|0.75846	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000530293|ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	.|T	.|0.41758	.|0.99	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	.|0.000000	.|0.47455	.|D	.|0.000223	T|T	0.36441|0.36441	0.0967|0.0967	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999991|0.999991	.|P;P	.|0.46512	.|0.879;0.808	.|P;B	.|0.45167	.|0.472;0.281	T|T	0.32903|0.32903	-0.9889|-0.9889	5|10	.|0.87932	.|D	.|0	-4.3667|-4.3667	12.9657|12.9657	0.58483|0.58483	0.0:0.1624:0.8376:0.0|0.0:0.1624:0.8376:0.0	.|.	.|1051;1056	.|Q86UU0-2;Q86UU0	.|.;BCL9L_HUMAN	F|L	76|1056;1019;349;1056;1056	.|ENSP00000335320:P1056L	.|ENSP00000335320:P1056L	L|P	-|-	1|2	0|0	BCL9L|BCL9L	118276075|118276075	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.987000|0.987000	0.75469|0.75469	7.160000|7.160000	0.77495|0.77495	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		16	57	0	0	0	1	0	16	57				
GPS2	2874	broad.mit.edu	37	17	7218340	7218340	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:7218340G>C	ENST00000380728.2	-	2	332	c.32C>G	c.(31-33)tCc>tGc	p.S11C	GPS2_ENST00000389167.5_Missense_Mutation_p.S11C|NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000391950.3_Missense_Mutation_p.S11C|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	11					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CATGGCGTTGGAAAGCTTGGG	0.711											OREG0006475	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=GPS2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(31-33)tCc>tGc		G protein pathway suppressor 2							16.0	16.0	16.0					17																	7218340		2200	4297	6497	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7218340G>C	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.32C>G	17.37:g.7218340G>C	ENSP00000370104:p.Ser11Cys		OREG0006475	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=GPS2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	640	GPS2_ENST00000391950.3_Missense_Mutation_p.S11C|GPS2_ENST00000389167.5_Missense_Mutation_p.S11C|RP11-542C16.2_ENST00000575474.1_3'UTR	p.S11C			Q13227	GPS2_HUMAN			2	332	-		Prostate(122;0.157)	11					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.32C>G	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389730	0.95988	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.55588	0.51;0.51	4.59	4.59	0.56863	.	0.000000	0.64402	U	0.000003	T	0.57873	0.2083	M	0.63843	1.955	0.46336	D	0.998992	P	0.49447	0.924	P	0.49140	0.601	T	0.63506	-0.6622	10	0.72032	D	0.01	-7.7753	12.7522	0.57314	0.0:0.1666:0.8334:0.0	.	11	Q13227	GPS2_HUMAN	C	11	ENSP00000370104:S11C;ENSP00000379841:S11C	ENSP00000319371:S11C	S	-	2	0	GPS2	7159064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.349000	0.73013	2.376000	0.81061	0.563000	0.77884	TCC		0.711	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		4	10	0	0	0	1	0	4	10				
PDZD2	23037	broad.mit.edu	37	5	32052762	32052762	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:32052762C>G	ENST00000438447.1	+	9	2099	c.1711C>G	c.(1711-1713)Cag>Gag	p.Q571E	PDZD2_ENST00000282493.3_Missense_Mutation_p.Q571E			O15018	PDZD2_HUMAN	PDZ domain containing 2	571					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGCACGACTCAGGTGGAATC	0.463																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(1711-1713)Cag>Gag		PDZ domain containing 2							174.0	164.0	167.0					5																	32052762		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32052762C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1711C>G	5.37:g.32052762C>G	ENSP00000402033:p.Gln571Glu					PDZD2_ENST00000282493.3_Missense_Mutation_p.Q571E	p.Q571E			O15018	PDZD2_HUMAN			9	2099	+			571					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1711C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132917	0.56828	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.38077	1.16;1.16	5.57	5.57	0.84162	PDZ/DHR/GLGF (1);	0.215240	0.23777	N	0.044671	T	0.27169	0.0666	L	0.29908	0.895	0.38973	D	0.958787	P;P	0.46395	0.483;0.877	B;B	0.37480	0.035;0.251	T	0.07102	-1.0790	10	0.26408	T	0.33	.	17.0468	0.86505	0.0:1.0:0.0:0.0	.	397;571	B4E3P2;O15018	.;PDZD2_HUMAN	E	571;390;571	ENSP00000402033:Q571E;ENSP00000282493:Q571E	ENSP00000282493:Q571E	Q	+	1	0	PDZD2	32088519	1.000000	0.71417	0.871000	0.34182	0.944000	0.59088	4.380000	0.59581	2.621000	0.88768	0.655000	0.94253	CAG		0.463	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	159	0	0	0	1	0	8	159				
EP400	57634	broad.mit.edu	37	12	132529947	132529947	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:132529947C>T	ENST00000333577.4	+	39	7085	c.6976C>T	c.(6976-6978)Ctg>Ttg	p.L2326L	EP400_ENST00000330386.6_Silent_p.L2209L|EP400_ENST00000389562.2_Silent_p.L2289L|EP400_ENST00000332482.4_Silent_p.L2253L|EP400_ENST00000389561.2_Silent_p.L2290L			Q96L91	EP400_HUMAN	E1A binding protein p400	2326					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)		ACCAGGACTTCTGAAAATTCG	0.572																																						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.(6976-6978)Ctg>Ttg		E1A binding protein p400							52.0	53.0	53.0					12																	132529947		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.chr12:132529947C>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.6976C>T	12.37:g.132529947C>T						EP400_ENST00000332482.4_Silent_p.L2253L|EP400_ENST00000389562.2_Silent_p.L2289L|EP400_ENST00000389561.2_Silent_p.L2290L|EP400_ENST00000330386.6_Silent_p.L2209L	p.L2326L			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	39	7085	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2326					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.6976C>T																																																																																					0.572	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		15	35	0	0	0	1	0	15	35				
SNX18	112574	broad.mit.edu	37	5	53815305	53815305	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:53815305C>T	ENST00000326277.3	+	1	1713	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V	SNX18_ENST00000343017.6_Missense_Mutation_p.A508V|SNX18_ENST00000381410.4_Missense_Mutation_p.A508V	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	508	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GAGCTCTTCGCGGAGCAGCCC	0.597																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1522-1524)gCg>gTg		sorting nexin 18							81.0	79.0	80.0					5																	53815305		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815305C>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1523C>T	5.37:g.53815305C>T	ENSP00000317332:p.Ala508Val					SNX18_ENST00000381410.4_Missense_Mutation_p.A508V|SNX18_ENST00000326277.3_Missense_Mutation_p.A508V	p.A508V	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1717	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	508			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1523C>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257223	0.80246	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.16597	2.51;2.33;2.69	5.09	5.09	0.68999	Sorting nexin protein, WASP-binding domain (1);	0.124826	0.53938	D	0.000055	T	0.39253	0.1071	L	0.58302	1.8	0.49798	D	0.999824	P;D	0.71674	0.939;0.998	B;D	0.66716	0.3;0.946	T	0.11179	-1.0598	10	0.66056	D	0.02	-22.1196	18.6944	0.91594	0.0:1.0:0.0:0.0	.	508;508	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	V	508	ENSP00000342276:A508V;ENSP00000370817:A508V;ENSP00000317332:A508V	ENSP00000317332:A508V	A	+	2	0	SNX18	53851062	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.709000	0.61867	2.648000	0.89879	0.561000	0.74099	GCG		0.597	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			4	130	0	0	0	1	0	4	130				
SZRD1	26099	broad.mit.edu	37	1	16719858	16719858	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:16719858C>T	ENST00000401088.4	+	3	412	c.237C>T	c.(235-237)agC>agT	p.S79S	SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000375590.3_Silent_p.S59S|SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000471507.1_Silent_p.S78S|SZRD1_ENST00000401089.3_Silent_p.S60S|SZRD1_ENST00000492354.1_Silent_p.S59S	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	79	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																ACTCCACCAGCAGGCCCACCC	0.672																																						ENST00000401088.4																			0											c.(235-237)agC>agT		SUZ RNA binding domain containing 1							40.0	47.0	44.0					1																	16719858		2049	4193	6242	SO:0001819	synonymous_variant	26099							g.chr1:16719858C>T	BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.237C>T	1.37:g.16719858C>T						SZRD1_ENST00000471507.1_Silent_p.S78S|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000492354.1_Silent_p.S59S|SZRD1_ENST00000375590.3_Silent_p.S59S|SZRD1_ENST00000401089.3_Silent_p.S60S	p.S79S	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1					3	412	+								A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Silent	SNP	ENST00000401088.4	37	c.237C>T	CCDS44065.1																																																																																				0.672	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006283.2	NM_015609		44	101	0	0	0	1	0	44	101				
IQGAP3	128239	broad.mit.edu	37	1	156520136	156520136	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:156520136C>T	ENST00000361170.2	-	16	1752	c.1742G>A	c.(1741-1743)gGg>gAg	p.G581E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	581					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCAGGATCCCCTGTCACCTG	0.537																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(1741-1743)gGg>gAg		IQ motif containing GTPase activating protein 3							64.0	60.0	62.0					1																	156520136		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156520136C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1742G>A	1.37:g.156520136C>T	ENSP00000354451:p.Gly581Glu						p.G581E	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			16	1752	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		581					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.1742G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	c	2.480	-0.319917	0.05386	.	.	ENSG00000183856	ENST00000361170	T	0.05580	3.42	4.97	4.04	0.47022	.	0.189681	0.44285	D	0.000466	T	0.01287	0.0042	L	0.40543	1.245	0.24296	N	0.995145	B	0.28713	0.22	B	0.24541	0.054	T	0.47649	-0.9101	10	0.02654	T	1	-16.5811	7.0749	0.25199	0.0:0.7633:0.0:0.2367	.	581	Q86VI3	IQGA3_HUMAN	E	581	ENSP00000354451:G581E	ENSP00000354451:G581E	G	-	2	0	IQGAP3	154786760	0.032000	0.19561	0.967000	0.41034	0.873000	0.50193	1.717000	0.37991	2.591000	0.87537	0.556000	0.70494	GGG		0.537	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		14	27	0	0	0	1	0	14	27				
GREB1	9687	broad.mit.edu	37	2	11752727	11752727	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:11752727C>T	ENST00000381486.2	+	19	3413	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F	GREB1_ENST00000396123.1_Missense_Mutation_p.S36F|GREB1_ENST00000234142.5_Missense_Mutation_p.S1038F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1038						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATGGGGAGTCCTTGCCGAGG	0.617																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3112-3114)tCc>tTc		growth regulation by estrogen in breast cancer 1							99.0	98.0	98.0					2																	11752727		1953	4146	6099	SO:0001583	missense	9687					integral to membrane		g.chr2:11752727C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3113C>T	2.37:g.11752727C>T	ENSP00000370896:p.Ser1038Phe					GREB1_ENST00000234142.5_Missense_Mutation_p.S1038F|GREB1_ENST00000396123.1_Missense_Mutation_p.S36F	p.S1038F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	19	3413	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1038					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3113C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842244	0.91197	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.27256	3.01;3.01;1.68	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.45131	-0.9282	10	0.87932	D	0	-24.818	19.8101	0.96543	0.0:1.0:0.0:0.0	.	1038	Q4ZG55	GREB1_HUMAN	F	1038;1038;36	ENSP00000370896:S1038F;ENSP00000234142:S1038F;ENSP00000379429:S36F	ENSP00000234142:S1038F	S	+	2	0	GREB1	11670178	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.183000	0.77697	2.696000	0.92011	0.655000	0.94253	TCC		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		18	63	0	0	0	1	0	18	63				
CPN1	1369	broad.mit.edu	37	10	101829594	101829594	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:101829594C>T	ENST00000370418.3	-	3	704	c.453G>A	c.(451-453)agG>agA	p.R151R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	151	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTGCATTGTTCCTGCCAACTA	0.418																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(451-453)agG>agA		carboxypeptidase N, polypeptide 1							117.0	117.0	117.0					10																	101829594		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101829594C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.453G>A	10.37:g.101829594C>T							p.R151R	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	3	704	-		Colorectal(252;0.234)	151			Catalytic.		B1AP59	Silent	SNP	ENST00000370418.3	37	c.453G>A	CCDS7486.1																																																																																				0.418	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		24	68	0	0	0	1	0	24	68				
TP53BP2	7159	broad.mit.edu	37	1	223987650	223987650	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:223987650C>T	ENST00000343537.7	-	11	1727	c.1436G>A	c.(1435-1437)gGt>gAt	p.G479D	TP53BP2_ENST00000391878.2_Missense_Mutation_p.G350D|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	473					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CCTCAGAGTACCAAAGGAAGG	0.433																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1048-1050)gGt>gAt		tumor protein p53 binding protein, 2							153.0	131.0	138.0					1																	223987650		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223987650C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1436G>A	1.37:g.223987650C>T	ENSP00000341957:p.Gly479Asp					TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.G479D|TP53BP2_ENST00000498843.1_5'UTR	p.G350D	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	12	1817	-			473					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1049G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903279	0.72754	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.48201	0.82;0.98	5.83	5.83	0.93111	.	0.116625	0.64402	D	0.000015	T	0.60741	0.2292	M	0.65975	2.015	0.80722	D	1	D;B	0.59767	0.986;0.415	P;B	0.55615	0.78;0.25	T	0.63056	-0.6722	10	0.66056	D	0.02	.	14.3017	0.66357	0.0:0.9295:0.0:0.0705	.	479;473	B4DG66;Q13625	.;ASPP2_HUMAN	D	350;479	ENSP00000375750:G350D;ENSP00000341957:G479D	ENSP00000341957:G479D	G	-	2	0	TP53BP2	222054273	0.636000	0.27207	0.654000	0.29608	0.425000	0.31504	3.832000	0.55783	2.770000	0.95276	0.655000	0.94253	GGT		0.433	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		10	54	0	0	0	1	0	10	54				
FAM115C	285966	broad.mit.edu	37	7	143421718	143421718	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:143421718C>G	ENST00000441159.2	+	7	2499	c.2433C>G	c.(2431-2433)atC>atG	p.I811M	FAM115C_ENST00000357344.4_Missense_Mutation_p.I811M|FAM115C_ENST00000444908.2_Missense_Mutation_p.I811M|FAM115C_ENST00000411497.2_Missense_Mutation_p.I530M|FAM115C_ENST00000425618.2_Missense_Mutation_p.I530M|FAM115C_ENST00000411935.1_Missense_Mutation_p.I707M|FAM115C_ENST00000409703.3_Missense_Mutation_p.I707M			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	811	Peptidase M60.				hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AGAGGAGAATCAAGGCCCACC	0.567																																						ENST00000441159.2																			0				endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						c.(2431-2433)atC>atG		family with sequence similarity 115, member C							22.0	22.0	22.0					7																	143421718		2201	4295	6496	SO:0001583	missense	285966							g.chr7:143421718C>G	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.2433C>G	7.37:g.143421718C>G	ENSP00000404265:p.Ile811Met					FAM115C_ENST00000411497.2_Missense_Mutation_p.I530M|FAM115C_ENST00000411935.1_Missense_Mutation_p.I707M|FAM115C_ENST00000444908.2_Missense_Mutation_p.I811M|FAM115C_ENST00000425618.2_Missense_Mutation_p.I530M|FAM115C_ENST00000409703.3_Missense_Mutation_p.I707M|FAM115C_ENST00000357344.4_Missense_Mutation_p.I811M	p.I811M			A6NFQ2	F115C_HUMAN			7	2499	+			811					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37	c.2433C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.783|6.783	0.513478|0.513478	0.12944|0.12944	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618|ENST00000518791	.|.	.|.	.|.	4.23|4.23	-4.09|-4.09	0.03951|0.03951	.|.	0.458554|.	0.22829|.	N|.	0.055122|.	T|T	0.44561|0.44561	0.1299|0.1299	M|M	0.78637|0.78637	2.42|2.42	0.09310|0.09310	N|N	1|1	P;D;D;D|.	0.89917|.	0.541;1.0;0.998;1.0|.	B;D;D;D|.	0.74674|.	0.282;0.973;0.98;0.984|.	T|T	0.49082|0.49082	-0.8976|-0.8976	9|5	0.66056|.	D|.	0.02|.	-28.3739|-28.3739	4.3497|4.3497	0.11150|0.11150	0.2479:0.2932:0.0:0.4589|0.2479:0.2932:0.0:0.4589	.|.	707;811;530;811|.	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2|.	.;F115C_HUMAN;.;.|.	M|E	811;530;811;811;707;707;530|626	.|.	ENSP00000349902:I811M|.	I|Q	+|+	3|1	3|0	FAM115C|FAM115C	143052651|143052651	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.134000|-0.134000	0.10436|0.10436	-0.682000|-0.682000	0.05197|0.05197	-0.474000|-0.474000	0.04947|0.04947	ATC|CAA		0.567	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		12	47	0	0	0	1	0	12	47				
MED24	9862	broad.mit.edu	37	17	38176142	38176142	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:38176142C>T	ENST00000394128.2	-	25	2830	c.2749G>A	c.(2749-2751)Gct>Act	p.A917T	MED24_ENST00000356271.3_Missense_Mutation_p.A904T|MED24_ENST00000501516.3_Missense_Mutation_p.A936T|MED24_ENST00000394127.2_Missense_Mutation_p.A904T|MED24_ENST00000394126.1_Missense_Mutation_p.A942T	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	917					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGGGGGCCAGCGGTGCGAGAC	0.622																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2824-2826)Gct>Act		mediator complex subunit 24							33.0	30.0	31.0					17																	38176142		2194	4293	6487	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38176142C>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2749G>A	17.37:g.38176142C>T	ENSP00000377686:p.Ala917Thr					MED24_ENST00000394128.2_Missense_Mutation_p.A917T|MED24_ENST00000356271.3_Missense_Mutation_p.A904T|MED24_ENST00000394127.2_Missense_Mutation_p.A904T|MED24_ENST00000501516.3_Missense_Mutation_p.A936T	p.A942T			O75448	MED24_HUMAN			24	3242	-	Colorectal(19;0.000442)		917					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.2824G>A	CCDS11359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.82|10.82	1.458859|1.458859	0.26248|0.26248	.|.	.|.	ENSG00000008838|ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000394127;ENST00000536318;ENST00000431269|ENST00000422942	T;T|.	0.48522|.	0.81;0.81|.	5.05|5.05	3.08|3.08	0.35506|0.35506	Mediator complex, subunit Med24, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60625|0.60625	0.2283|0.2283	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999996|0.999996	B;D;B;B;B;B|.	0.67145|.	0.002;0.996;0.37;0.423;0.002;0.02|.	B;P;B;B;B;B|.	0.55222|.	0.003;0.771;0.036;0.061;0.003;0.018|.	T|T	0.56414|0.56414	-0.7983|-0.7983	10|5	0.38643|.	T|.	0.18|.	-9.383|-9.383	11.4438|11.4438	0.50112|0.50112	0.0:0.8521:0.0:0.1479|0.0:0.8521:0.0:0.1479	.|.	827;827;904;917;859;494|.	F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1;B4E0S3|.	.;.;.;MED24_HUMAN;.;.|.	T|H	917;917;917;904;859;827|214	ENSP00000377686:A917T;ENSP00000377685:A904T|.	ENSP00000348610:A917T|.	A|R	-|-	1|2	0|0	MED24|MED24	35429668|35429668	1.000000|1.000000	0.71417|0.71417	0.005000|0.005000	0.12908|0.12908	0.171000|0.171000	0.22731|0.22731	7.627000|7.627000	0.83176|0.83176	0.724000|0.724000	0.32296|0.32296	-0.143000|-0.143000	0.13931|0.13931	GCT|CGC		0.622	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		4	2	0	0	0	1	0	4	2				
SAE1	10055	broad.mit.edu	37	19	47656163	47656163	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:47656163G>C	ENST00000270225.7	+	4	461	c.393G>C	c.(391-393)ctG>ctC	p.L131L	SAE1_ENST00000598840.1_Intron|SAE1_ENST00000413379.3_Silent_p.L131L|SAE1_ENST00000540850.1_Intron|SAE1_ENST00000392776.3_Silent_p.L131L	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	131					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AGGTGTGTCTGACTTGCTGCT	0.398																																						ENST00000413379.3																			0				endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13						c.(391-393)ctG>ctC		SUMO1 activating enzyme subunit 1							143.0	135.0	137.0					19																	47656163		2203	4300	6503	SO:0001819	synonymous_variant	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47656163G>C	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.393G>C	19.37:g.47656163G>C						SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Intron|SAE1_ENST00000392776.3_Silent_p.L131L|SAE1_ENST00000270225.7_Silent_p.L131L	p.L131L	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	4	495	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	131					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Silent	SNP	ENST00000270225.7	37	c.393G>C	CCDS12696.1																																																																																				0.398	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		7	189	0	0	0	1	0	7	189				
PRAMEF11	440560	broad.mit.edu	37	1	12887527	12887527	+	Silent	SNP	A	A	G	rs2486716	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:12887527A>G	ENST00000535591.1	-	3	525	c.330T>C	c.(328-330)ttT>ttC	p.F110F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	110					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)			p.F110F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAAGTTCTACAAACACAGTCA	0.498													.|||	20	0.00399361	0.0023	0.0	5008	,	,		19220	0.0089		0.002	False		,,,				2504	0.0061					ENST00000535591.1																			1	Substitution - coding silent(1)	p.F110F(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(328-330)ttT>ttC		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887527A>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.330T>C	1.37:g.12887527A>G							p.F110F	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	525	-			110						Silent	SNP	ENST00000535591.1	37	c.330T>C	CCDS53268.1																																																																																				0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	453	0	0	0	1	0	6	453				
DDX60	55601	broad.mit.edu	37	4	169227642	169227642	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:169227642G>A	ENST00000393743.3	-	5	785	c.494C>T	c.(493-495)tCt>tTt	p.S165F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	165					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)		CCTTGCCCAAGAATGAATGAT	0.413																																						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.(493-495)tCt>tTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							91.0	94.0	93.0					4																	169227642		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227642G>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.494C>T	4.37:g.169227642G>A	ENSP00000377344:p.Ser165Phe						p.S165F	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	785	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	165					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.494C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765462	0.49574	.	.	ENSG00000137628	ENST00000393743	T	0.17370	2.28	5.11	4.24	0.50183	.	0.458353	0.20598	N	0.089210	T	0.34395	0.0896	M	0.70275	2.135	0.09310	N	1	P	0.52577	0.954	P	0.53861	0.736	T	0.18178	-1.0345	10	0.72032	D	0.01	.	15.3569	0.74434	0.0:0.1406:0.8594:0.0	.	165	Q8IY21	DDX60_HUMAN	F	165	ENSP00000377344:S165F	ENSP00000377344:S165F	S	-	2	0	DDX60	169464217	0.469000	0.25846	0.034000	0.17996	0.439000	0.31926	3.435000	0.52849	1.222000	0.43521	0.563000	0.77884	TCT		0.413	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		4	91	0	0	0	1	0	4	91				
PLOD1	5351	broad.mit.edu	37	1	12017008	12017008	+	Silent	SNP	G	G	A	rs371007185		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:12017008G>A	ENST00000196061.4	+	7	705	c.678G>A	c.(676-678)gtG>gtA	p.V226V	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.V273V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	226					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGCCATGTGAGAGCGAGGA	0.622																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(676-678)gtG>gtA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	G		1,4405	2.1+/-5.4	0,1,2202	158.0	132.0	141.0		678	1.1	1.0	1		141	0,8600		0,0,4300	no	coding-synonymous	PLOD1	NM_000302.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		226/728	12017008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017008G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.678G>A	1.37:g.12017008G>A						PLOD1_ENST00000376369.3_Silent_p.V273V|PLOD1_ENST00000485046.1_3'UTR	p.V226V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	705	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	226					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.678G>A	CCDS142.1																																																																																				0.622	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		38	86	0	0	0	1	0	38	86				
DPH5	51611	broad.mit.edu	37	1	101467118	101467118	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:101467118G>A	ENST00000370109.3	-	5	507	c.395C>T	c.(394-396)tCt>tTt	p.S132F	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.S132F|DPH5_ENST00000488176.1_Missense_Mutation_p.S132F	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	132					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AAAAACAATAGAAACTGTCTC	0.303																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(394-396)tCt>tTt		diphthamide biosynthesis 5							97.0	88.0	90.0					1																	101467118		1803	4072	5875	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101467118G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.395C>T	1.37:g.101467118G>A	ENSP00000359127:p.Ser132Phe					DPH5_ENST00000342173.7_Missense_Mutation_p.S132F|DPH5_ENST00000488176.1_Missense_Mutation_p.S132F|DPH5_ENST00000370105.3_5'UTR	p.S132F	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	5	507	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	132					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.395C>T	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769746	0.69992	.	.	ENSG00000117543	ENST00000370109;ENST00000342173;ENST00000488176	.	.	.	5.93	5.93	0.95920	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (2);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	H	0.95437	3.67	0.80722	D	1	P;B;B	0.36633	0.562;0.082;0.307	P;B;P	0.45794	0.486;0.293;0.493	D	0.85771	0.1355	9	0.87932	D	0	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	132;132;132	Q9H2P9-5;Q9H2P9;A8JZY6	.;DPH5_HUMAN;.	F	132	.	ENSP00000339630:S132F	S	-	2	0	DPH5	101239706	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.926000	0.92839	2.826000	0.97356	0.655000	0.94253	TCT		0.303	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		7	25	0	0	0	1	0	7	25				
RIN1	9610	broad.mit.edu	37	11	66102902	66102902	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:66102902C>G	ENST00000311320.4	-	5	649	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	RIN1_ENST00000424433.2_Missense_Mutation_p.E70Q|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Missense_Mutation_p.E70Q|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	175					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GAGATGGCCTCCAGCTCTTTG	0.622																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(523-525)Gag>Cag		Ras and Rab interactor 1							81.0	67.0	72.0					11																	66102902		2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102902C>G	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.523G>C	11.37:g.66102902C>G	ENSP00000310406:p.Glu175Gln					RIN1_ENST00000530056.1_Missense_Mutation_p.E70Q|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.E70Q	p.E175Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			5	649	-			175					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.523G>C	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793135	0.70452	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.45668	0.89;1.49;1.49	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.58104	0.2099	L	0.58669	1.825	0.38836	D	0.955956	D;D	0.69078	0.993;0.997	D;P	0.72982	0.979;0.879	T	0.59783	-0.7389	10	0.41790	T	0.15	-17.9916	13.3063	0.60355	0.0:1.0:0.0:0.0	.	70;175	E9PNR2;Q13671	.;RIN1_HUMAN	Q	175;70;70	ENSP00000310406:E175Q;ENSP00000400560:E70Q;ENSP00000432798:E70Q	ENSP00000310406:E175Q	E	-	1	0	RIN1	65859478	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	2.870000	0.48451	2.287000	0.76781	0.462000	0.41574	GAG		0.622	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		12	43	0	0	0	1	0	12	43				
C1R	715	broad.mit.edu	37	12	7244099	7244099	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:7244099G>A	ENST00000542285.1	-	2	326	c.177C>T	c.(175-177)ttC>ttT	p.F59F				P00736	C1R_HUMAN	complement component 1, r subcomponent	60	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAAACTGCTGGAAGACGAGCT	0.557																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(175-177)ttC>ttT		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						65.0	67.0	67.0					12																	7244099		1972	4144	6116	SO:0001819	synonymous_variant	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7244099G>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.177C>T	12.37:g.7244099G>A							p.F59F			P00736	C1R_HUMAN			2	326	-			60			CUB 1.		A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37	c.177C>T																																																																																					0.557	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		10	16	0	0	0	1	0	10	16				
ATG4D	84971	broad.mit.edu	37	19	10663612	10663612	+	Missense_Mutation	SNP	G	G	A	rs376428796		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:10663612G>A	ENST00000309469.4	+	10	1467	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	432					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.E432K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCCTGGCCGAGGGCCATGC	0.662																																						ENST00000309469.4																			1	Substitution - Missense(1)	p.E432K(1)	lung(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(1294-1296)Gag>Aag		autophagy related 4D, cysteine peptidase		G	LYS/GLU	0,4406		0,0,2203	87.0	77.0	80.0		1294	5.1	1.0	19		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATG4D	NM_032885.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	432/475	10663612	1,13005	2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663612G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1294G>A	19.37:g.10663612G>A	ENSP00000311318:p.Glu432Lys					ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K	p.E432K	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1467	+			432					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1294G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232663	0.79688	0.0	1.16E-4	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.34521	1.04	0.80722	D	1	P;P	0.42827	0.566;0.791	B;B	0.31245	0.126;0.126	T	0.31364	-0.9946	9	0.30078	T	0.28	-9.1337	17.6263	0.88095	0.0:0.0:1.0:0.0	.	369;432	B4DGM8;Q86TL0	.;ATG4D_HUMAN	K	432;99	.	ENSP00000311318:E432K	E	+	1	0	ATG4D	10524612	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	8.392000	0.90180	2.539000	0.85634	0.591000	0.81541	GAG		0.662	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		5	120	0	0	0	1	0	5	120				
RPS6KC1	26750	broad.mit.edu	37	1	213405586	213405586	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:213405586C>A	ENST00000366960.3	+	10	1363	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Q393K|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Q108K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Q193K	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	405	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCTTGTGCTGCAGCATGCGGA	0.448																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1213-1215)Cag>Aag		ribosomal protein S6 kinase, 52kDa, polypeptide 1							308.0	261.0	277.0					1																	213405586		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213405586C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1213C>A	1.37:g.213405586C>A	ENSP00000355927:p.Gln405Lys					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Q108K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Q193K|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Q393K	p.Q405K	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	10	1363	+			405			Protein kinase 1.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1213C>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423684	0.83559	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.39633	1.23	0.80722	D	1	D;D;D	0.63046	0.99;0.992;0.992	P;P;P	0.60286	0.842;0.872;0.872	T	0.03008	-1.1083	10	0.39692	T	0.17	-32.2826	19.7829	0.96424	0.0:1.0:0.0:0.0	.	193;405;393	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	K	193;405;393;108	ENSP00000442306:Q193K;ENSP00000355927:Q405K;ENSP00000355926:Q393K;ENSP00000439282:Q108K	ENSP00000355926:Q393K	Q	+	1	0	RPS6KC1	211472209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.061000	0.76699	2.758000	0.94735	0.460000	0.39030	CAG		0.448	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		42	175	1	0	4.18559e-23	1	4.50319e-23	42	175				
GOLGB1	2804	broad.mit.edu	37	3	121413052	121413052	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:121413052C>G	ENST00000340645.5	-	13	6428	c.6303G>C	c.(6301-6303)ttG>ttC	p.L2101F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L2106F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2101					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTCCTTTTTCAACTTGAGAT	0.423																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(6316-6318)ttG>ttC		golgin B1							153.0	156.0	155.0					3																	121413052		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413052C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6303G>C	3.37:g.121413052C>G	ENSP00000341848:p.Leu2101Phe					GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2101F	p.L2106F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6428	-			2101					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6318G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310400	0.23821	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15834	2.39;2.39	5.93	2.67	0.31697	.	0.276679	0.25836	N	0.027995	T	0.22551	0.0544	M	0.62723	1.935	0.26934	N	0.966403	D;D;D;D	0.61080	0.986;0.96;0.96;0.989	P;P;P;P	0.51918	0.663;0.684;0.684;0.668	T	0.09228	-1.0684	10	0.56958	D	0.05	.	4.1714	0.10331	0.0:0.5243:0.1669:0.3088	.	2026;2106;2106;2101	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	F	2101;2106	ENSP00000341848:L2101F;ENSP00000377275:L2106F	ENSP00000341848:L2101F	L	-	3	2	GOLGB1	122895742	0.009000	0.17119	1.000000	0.80357	0.998000	0.95712	-0.446000	0.06837	0.655000	0.30866	0.591000	0.81541	TTG		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		5	171	0	0	0	1	0	5	171				
P4HA1	5033	broad.mit.edu	37	10	74831832	74831832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:74831832C>A	ENST00000307116.2	-	4	396	c.280G>T	c.(280-282)Gag>Tag	p.E94*	RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000412021.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000394890.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000263556.3_Nonsense_Mutation_p.E94*|P4HA1_ENST00000373008.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000440381.1_Nonsense_Mutation_p.E94*			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	94					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCACTCCACTCAGTATTCAGA	0.388																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(280-282)Gag>Tag		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						179.0	172.0	174.0					10																	74831832		2203	4300	6503	SO:0001587	stop_gained	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74831832C>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.280G>T	10.37:g.74831832C>A	ENSP00000307318:p.Glu94*					P4HA1_ENST00000394890.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000440381.1_Nonsense_Mutation_p.E94*|P4HA1_ENST00000307116.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000263556.3_Nonsense_Mutation_p.E94*|P4HA1_ENST00000373008.2_Nonsense_Mutation_p.E94*|RP11-344N10.2_ENST00000431293.2_RNA	p.E94*	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			5	613	-	Prostate(51;0.0198)		94					C9JL12|Q15082|Q15083|Q5VSQ5	Nonsense_Mutation	SNP	ENST00000307116.2	37	c.280G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.746841	0.96882	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	1.9287	18.3981	0.90505	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000263556:E94X	E	-	1	0	P4HA1	74501838	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.275000	0.78548	2.645000	0.89757	0.491000	0.48974	GAG		0.388	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		38	156	1	0	4.0492e-12	1	4.29821e-12	38	156				
GIGYF2	26058	broad.mit.edu	37	2	233651923	233651923	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:233651923C>G	ENST00000409547.1	+	11	907	c.596C>G	c.(595-597)tCa>tGa	p.S199*	GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.S221*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	199	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTATACGCTCAGAAAGTGAA	0.423																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(661-663)tCa>tGa		GRB10 interacting GYF protein 2							114.0	117.0	116.0					2																	233651923		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233651923C>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.596C>G	2.37:g.233651923C>G	ENSP00000386537:p.Ser199*					GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*	p.S221*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	10	859	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	199			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.662C>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885015	0.97068	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	.	.	.	5.63	5.63	0.86233	.	0.315400	0.31041	N	0.008368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-9.3296	20.0345	0.97552	0.0:1.0:0.0:0.0	.	.	.	.	X	221;148;199;221;199;199;148;199;221;199;30;30;26	.	ENSP00000362664:S199X	S	+	2	0	GIGYF2	233360167	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.034000	0.76511	2.797000	0.96272	0.655000	0.94253	TCA		0.423	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		29	38	0	0	0	1	0	29	38				
OR5D14	219436	broad.mit.edu	37	11	55563543	55563543	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:55563543C>G	ENST00000335605.1	+	1	512	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S171Y(1)|p.S171F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAAACTTCTCTGGACCTAAT	0.493																																						ENST00000335605.1																			2	Substitution - Missense(2)	p.S171Y(1)|p.S171F(1)	lung(1)|skin(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(511-513)tCt>tGt		olfactory receptor, family 5, subfamily D, member 14							198.0	198.0	198.0					11																	55563543		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563543C>G	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.512C>G	11.37:g.55563543C>G	ENSP00000334456:p.Ser171Cys						p.S171C	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	512	+		all_epithelial(135;0.196)	171					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.512C>G	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.824311	0.00071	.	.	ENSG00000186113	ENST00000335605	T	0.00025	8.96	5.08	-6.63	0.01807	GPCR, rhodopsin-like superfamily (1);	0.534856	0.15825	N	0.242791	T	0.00012	0.0000	N	0.00005	-3.305	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49513	-0.8932	10	0.02654	T	1	-7.6052	8.4561	0.32899	0.0914:0.1485:0.6103:0.1498	.	171	Q8NGL3	OR5DE_HUMAN	C	171	ENSP00000334456:S171C	ENSP00000334456:S171C	S	+	2	0	OR5D14	55320119	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.473000	0.06615	-1.317000	0.02292	-0.189000	0.12847	TCT		0.493	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		8	221	0	0	0	1	0	8	221				
RPS6KB1	6198	broad.mit.edu	37	17	58013586	58013586	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:58013586G>C	ENST00000225577.4	+	11	1010	c.989G>C	c.(988-990)aGa>aCa	p.R330T	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.R330T|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.R307T|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.R277T	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CTGCTGAAAAGAAATGCTGCT	0.408																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(988-990)aGa>aCa		ribosomal protein S6 kinase, 70kDa, polypeptide 1							110.0	109.0	109.0					17																	58013586		2203	4300	6503	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58013586G>C	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.989G>C	17.37:g.58013586G>C	ENSP00000225577:p.Arg330Thr					RPS6KB1_ENST00000406116.3_Missense_Mutation_p.R330T|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.R307T|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.R277T	p.R330T	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		11	1010	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		330			Protein kinase.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.989G>C	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785379	0.90282	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.31578	0.945	0.80722	D	1	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.78314	0.955;0.984;0.991	T	0.71351	-0.4619	10	0.87932	D	0	.	19.5603	0.95369	0.0:0.0:1.0:0.0	.	307;330;330	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	T	307;330;330;277	ENSP00000441993:R307T;ENSP00000384335:R330T;ENSP00000225577:R330T;ENSP00000376744:R277T	ENSP00000225577:R330T	R	+	2	0	RPS6KB1	55368368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.437000	0.97535	2.608000	0.88229	0.644000	0.83932	AGA		0.408	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		22	76	0	0	0	1	0	22	76				
SGSM1	129049	broad.mit.edu	37	22	25264737	25264737	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:25264737C>T	ENST00000400359.4	+	12	1213	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	SGSM1_ENST00000400358.4_Silent_p.A402A	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	402						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.A402A(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGGTTCTGCCGAGTCCACAT	0.517																																						ENST00000400358.4																			2	Substitution - coding silent(2)	p.A402A(2)	lung(2)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(1204-1206)gcC>gcT		small G protein signaling modulator 1							116.0	112.0	113.0					22																	25264737		1955	4164	6119	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25264737C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1206C>T	22.37:g.25264737C>T						SGSM1_ENST00000400359.4_Silent_p.A402A	p.A402A	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			12	1263	+			402					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.1206C>T	CCDS46674.1																																																																																				0.517	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		4	149	0	0	0	1	0	4	149				
SLC6A7	6534	broad.mit.edu	37	5	149582169	149582169	+	Silent	SNP	C	C	T	rs563622979	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:149582169C>T	ENST00000230671.2	+	8	1361	c.990C>T	c.(988-990)aaC>aaT	p.N330N	SLC6A7_ENST00000524041.1_Silent_p.N330N	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	330					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.N330N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTCTGGGCAACGCCATCACCA	0.602													C|||	16	0.00319489	0.0	0.0	5008	,	,		20380	0.0		0.0	False		,,,				2504	0.0164					ENST00000230671.2																			1	Substitution - coding silent(1)	p.N330N(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(988-990)aaC>aaT		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						92.0	75.0	81.0					5																	149582169		2203	4300	6503	SO:0001819	synonymous_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149582169C>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.990C>T	5.37:g.149582169C>T						SLC6A7_ENST00000524041.1_Silent_p.N330N	p.N330N	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1361	+		all_hematologic(541;0.224)	330					Q0VG81|Q52LU6	Silent	SNP	ENST00000230671.2	37	c.990C>T	CCDS4305.1																																																																																				0.602	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		35	84	0	0	0	1	0	35	84				
ZNF468	90333	broad.mit.edu	37	19	53352349	53352349	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:53352349C>T	ENST00000595646.1	-	3	253	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF468_ENST00000396409.4_5'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000243639.4_Missense_Mutation_p.V45I			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V45I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCCAGGGAGACGAGGTTCCTA	0.483																																						ENST00000595646.1																			1	Substitution - Missense(1)	p.V45I(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(133-135)Gtc>Atc		zinc finger protein 468							140.0	141.0	140.0					19																	53352349		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53352349C>T	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.133G>A	19.37:g.53352349C>T	ENSP00000470381:p.Val45Ile					ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000243639.4_Missense_Mutation_p.V45I|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_5'UTR	p.V45I			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	3	253	-			45			KRAB.		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.133G>A	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	10.30	1.311697	0.23821	.	.	ENSG00000204604	ENST00000243639	T	0.02197	4.4	1.99	-3.43	0.04810	Krueppel-associated box (4);	.	.	.	.	T	0.03136	0.0092	M	0.76727	2.345	0.80722	D	1	B	0.22851	0.076	B	0.29440	0.102	T	0.38972	-0.9636	9	0.59425	D	0.04	.	2.7501	0.05277	0.1631:0.2323:0.4708:0.1339	.	45	Q5VIY5	ZN468_HUMAN	I	45	ENSP00000243639:V45I	ENSP00000243639:V45I	V	-	1	0	ZNF468	58044161	0.000000	0.05858	0.699000	0.30290	0.785000	0.44390	-3.647000	0.00404	-0.251000	0.09542	0.499000	0.49734	GTC		0.483	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		43	268	0	0	0	1	0	43	268				
ACRBP	84519	broad.mit.edu	37	12	6753358	6753358	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:6753358C>T	ENST00000229243.2	-	5	982	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000536350.1_Missense_Mutation_p.E297K|ACRBP_ENST00000414226.2_Missense_Mutation_p.E264K	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TCATTCATTTCATCTATTTCC	0.458																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(889-891)Gaa>Aaa		acrosin binding protein							91.0	94.0	93.0					12																	6753358		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6753358C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.889G>A	12.37:g.6753358C>T	ENSP00000229243:p.Glu297Lys					ACRBP_ENST00000536350.1_Missense_Mutation_p.E297K|ACRBP_ENST00000414226.2_Missense_Mutation_p.E264K	p.E297K	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			5	982	-			297						Missense_Mutation	SNP	ENST00000229243.2	37	c.889G>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364905	0.24684	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.47869	0.85;0.83	4.25	4.25	0.50352	.	0.619301	0.15342	N	0.267456	T	0.43033	0.1229	M	0.63428	1.95	0.23325	N	0.997905	P;P	0.34522	0.455;0.455	B;B	0.27170	0.077;0.077	T	0.43589	-0.9382	10	0.51188	T	0.08	-16.9725	12.3384	0.55081	0.0:1.0:0.0:0.0	.	264;297	E7EP66;Q8NEB7	.;ACRBP_HUMAN	K	297;264;297	ENSP00000229243:E297K;ENSP00000402725:E264K	ENSP00000229243:E297K	E	-	1	0	ACRBP	6623619	0.852000	0.29690	0.941000	0.38009	0.119000	0.20118	1.949000	0.40313	2.352000	0.79861	0.561000	0.74099	GAA		0.458	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		43	76	0	0	0	1	0	43	76				
IGFALS	3483	broad.mit.edu	37	16	1837974	1837974	+	IGR	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:1837974G>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000565134.1_Silent_p.L174L|NUBP2_ENST00000543305.1_Silent_p.L33L|NUBP2_ENST00000565987.1_Silent_p.L114L|NUBP2_ENST00000568706.1_Silent_p.L33L|NUBP2_ENST00000262302.9_Silent_p.L174L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GGCGCGAGCTGACCTTCTGTA	0.682																																						ENST00000262302.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(520-522)ctG>ctA		nucleotide binding protein 2							85.0	87.0	86.0					16																	1837974		2198	4300	6498	SO:0001628	intergenic_variant	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1837974G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1837974G>A						NUBP2_ENST00000568706.1_Silent_p.L33L|NUBP2_ENST00000543305.1_Silent_p.L33L|NUBP2_ENST00000565987.1_Silent_p.L114L|NUBP2_ENST00000565134.1_Silent_p.L174L	p.L174L	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN			5	642	+			174					B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.522G>A	CCDS10446.1																																																																																				0.682	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			29	106	0	0	0	1	0	29	106				
FLG	2312	broad.mit.edu	37	1	152287145	152287145	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:152287145C>G	ENST00000368799.1	-	3	252	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAAGAAACTCAGTGAAGTCA	0.403									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(217-219)Gag>Cag		filaggrin							115.0	114.0	114.0					1																	152287145		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287145C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.217G>C	1.37:g.152287145C>G	ENSP00000357789:p.Glu73Gln					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E73Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	252	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		73			EF-hand 2.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.217G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827589	0.32329	.	.	ENSG00000143631	ENST00000368799	T	0.49432	0.78	5.09	5.09	0.68999	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.73466	0.3590	H	0.97023	3.925	0.25731	N	0.985262	D	0.89917	1.0	D	0.87578	0.998	T	0.71148	-0.4677	9	0.87932	D	0	-18.9577	13.9217	0.63935	0.0:1.0:0.0:0.0	.	73	P20930	FILA_HUMAN	Q	73	ENSP00000357789:E73Q	ENSP00000357789:E73Q	E	-	1	0	FLG	150553769	0.874000	0.30092	0.517000	0.27799	0.302000	0.27658	3.340000	0.52143	2.652000	0.90054	0.585000	0.79938	GAG		0.403	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		19	61	0	0	0	1	0	19	61				
REL	5966	broad.mit.edu	37	2	61118956	61118956	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:61118956T>C	ENST00000295025.8	+	2	469	c.149T>C	c.(148-150)aTc>aCc	p.I50T	REL_ENST00000394479.3_Missense_Mutation_p.I50T	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	50	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TACCCTTCTATCCAGGTAATA	0.438			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(148-150)aTc>aCc		v-rel avian reticuloendotheliosis viral oncogene homolog							171.0	152.0	159.0					2																	61118956		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61118956T>C	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.149T>C	2.37:g.61118956T>C	ENSP00000295025:p.Ile50Thr					REL_ENST00000394479.3_Missense_Mutation_p.I50T	p.I50T	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		2	469	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	50			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.149T>C	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666906	0.88251	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.53857	0.6;0.6	5.47	5.47	0.80525	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.110918	0.64402	D	0.000016	T	0.74612	0.3739	M	0.90977	3.165	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.56474	0.737;0.799	T	0.81551	-0.0881	10	0.87932	D	0	-6.3538	15.5453	0.76093	0.0:0.0:0.0:1.0	.	50;50	Q17RU2;Q04864	.;REL_HUMAN	T	50	ENSP00000295025:I50T;ENSP00000377989:I50T	ENSP00000295025:I50T	I	+	2	0	REL	60972460	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	8.035000	0.88872	2.066000	0.61787	0.528000	0.53228	ATC		0.438	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		22	55	0	0	0	1	0	22	55				
ATXN3	4287	broad.mit.edu	37	14	92572896	92572896	+	Start_Codon_SNP	SNP	T	T	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:92572896T>C	ENST00000532032.1	-	1	10	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ATXN3_ENST00000340660.6_Start_Codon_SNP_p.M1V|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Start_Codon_SNP_p.M1V|ATXN3_ENST00000545170.1_Start_Codon_SNP_p.M1V|ATXN3_ENST00000393287.5_Start_Codon_SNP_p.M1V|ATXN3_ENST00000429774.2_Start_Codon_SNP_p.M1V			P54252	ATX3_HUMAN	ataxin 3	1	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATGGACTCCATGTTTATTTGT	0.711																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.(1-3)Atg>Gtg		ataxin 3							52.0	46.0	48.0					14																	92572896		2203	4300	6503	SO:0001582	initiator_codon_variant	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92572896T>C	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.1A>G	14.37:g.92572896T>C	ENSP00000437157:p.Met1Val					ATXN3_ENST00000429774.2_Start_Codon_SNP_p.M1V|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Start_Codon_SNP_p.M1V|ATXN3_ENST00000340660.6_Start_Codon_SNP_p.M1V|ATXN3_ENST00000393287.5_Start_Codon_SNP_p.M1V|ATXN3_ENST00000503767.1_Start_Codon_SNP_p.M1V	p.M1V	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	1	69	-		all_cancers(154;0.0768)	1			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Translation_Start_Site	SNP	ENST00000532032.1	37	c.1A>G		.	.	.	.	.	.	.	.	.	.	T	23.2	4.387896	0.82902	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000393287;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000554592;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T	0.35048	1.7;1.89;1.7;1.83;2.08;1.33;1.63;1.49;1.47;1.64;1.38	4.0	4.0	0.46444	.	0.091894	0.64402	D	0.000001	T	0.54902	0.1887	.	.	.	0.80722	D	1	D;D;P;D	0.71674	0.989;0.989;0.811;0.998	P;D;P;D	0.87578	0.841;0.917;0.828;0.998	T	0.52786	-0.8529	9	0.30854	T	0.27	.	12.6308	0.56657	0.0:0.0:0.0:1.0	.	1;1;1;1	P54252;E9PB63;P54252-3;P54252-2	ATX3_HUMAN;.;.;.	V	1	ENSP00000445618:M1V;ENSP00000389376:M1V;ENSP00000376965:M1V;ENSP00000426697:M1V;ENSP00000339110:M1V;ENSP00000437157:M1V;ENSP00000451001:M1V;ENSP00000451385:M1V;ENSP00000451996:M1V;ENSP00000450641:M1V;ENSP00000435571:M1V	ENSP00000339110:M1V	M	-	1	0	ATXN3	91642649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.570000	0.67398	1.472000	0.48140	0.477000	0.44152	ATG		0.711	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993	Missense_Mutation	18	56	0	0	0	1	0	18	56				
GPS2	2874	broad.mit.edu	37	17	7216782	7216782	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:7216782G>A	ENST00000380728.2	-	8	941	c.641C>T	c.(640-642)tCg>tTg	p.S214L	GPS2_ENST00000389167.5_Missense_Mutation_p.S214L|GPS2_ENST00000391950.3_Missense_Mutation_p.S214L|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	214					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGGAATGCCGAAGGAGCTGA	0.507											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(640-642)tCg>tTg		G protein pathway suppressor 2							80.0	82.0	81.0					17																	7216782		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216782G>A	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.641C>T	17.37:g.7216782G>A	ENSP00000370104:p.Ser214Leu		OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	GPS2_ENST00000391950.3_Missense_Mutation_p.S214L|GPS2_ENST00000389167.5_Missense_Mutation_p.S214L|RP11-542C16.2_ENST00000575474.1_3'UTR	p.S214L			Q13227	GPS2_HUMAN			8	941	-		Prostate(122;0.157)	214					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.641C>T	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350222	0.82132	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.51071	0.72;0.72	4.74	4.74	0.60224	.	0.000000	0.64402	U	0.000002	T	0.31389	0.0795	L	0.29908	0.895	0.58432	D	0.999999	P	0.43287	0.802	B	0.32762	0.152	T	0.11542	-1.0583	10	0.25106	T	0.35	-3.0525	14.7643	0.69626	0.0:0.0:1.0:0.0	.	214	Q13227	GPS2_HUMAN	L	214	ENSP00000370104:S214L;ENSP00000379841:S214L	ENSP00000319371:S214L	S	-	2	0	GPS2	7157506	1.000000	0.71417	0.967000	0.41034	0.553000	0.35397	5.896000	0.69822	2.459000	0.83118	0.655000	0.94253	TCG		0.507	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		30	94	0	0	0	1	0	30	94				
YLPM1	56252	broad.mit.edu	37	14	75264827	75264827	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:75264827C>G	ENST00000325680.7	+	5	2951	c.2827C>G	c.(2827-2829)Cag>Gag	p.Q943E	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.Q748E	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	748	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCTGTTACTCAGCCTGTACC	0.478																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2827-2829)Cag>Gag		YLP motif containing 1							77.0	78.0	78.0					14																	75264827		1932	4155	6087	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264827C>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2827C>G	14.37:g.75264827C>G	ENSP00000324463:p.Gln943Glu					YLPM1_ENST00000238571.3_Missense_Mutation_p.Q748E|YLPM1_ENST00000552421.1_Intron	p.Q943E	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2951	+			748			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2827C>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844594	0.16963	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	4.92	4.03	0.46877	.	0.328267	0.26662	N	0.023145	T	0.36138	0.0956	L	0.43152	1.355	0.27974	N	0.936272	B	0.12630	0.006	B	0.11329	0.006	T	0.09465	-1.0673	9	0.31617	T	0.26	-1.7747	8.4299	0.32750	0.0:0.8205:0.0:0.1795	.	943	P49750-4	.	E	943;748;656	.	ENSP00000238571:Q748E	Q	+	1	0	YLPM1	74334580	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	1.756000	0.38390	2.720000	0.93068	0.643000	0.83706	CAG		0.478	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		35	56	0	0	0	1	0	35	56				
TRIM63	84676	broad.mit.edu	37	1	26387823	26387823	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:26387823C>T	ENST00000374272.3	-	3	473	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	112	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCGGCCGACTGCAGTG	0.592																																						ENST00000374272.3																			0				kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(334-336)cGg>cAg		tripartite motif containing 63, E3 ubiquitin protein ligase							92.0	71.0	78.0					1																	26387823		2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26387823C>T	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.335G>A	1.37:g.26387823C>T	ENSP00000363390:p.Arg112Gln					TRIM63_ENST00000483052.1_5'UTR	p.R112Q	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	473	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	112			Interaction with TTN.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.335G>A	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998420	0.74818	.	.	ENSG00000158022	ENST00000374272	T	0.39229	1.09	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);	0.237642	0.41001	D	0.000977	T	0.54806	0.1881	L	0.57536	1.79	0.44123	D	0.996902	D	0.64830	0.994	P	0.56563	0.801	T	0.43637	-0.9379	10	0.19147	T	0.46	.	18.9836	0.92763	0.0:1.0:0.0:0.0	.	112	Q969Q1	TRI63_HUMAN	Q	112	ENSP00000363390:R112Q	ENSP00000363390:R112Q	R	-	2	0	TRIM63	26260410	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.324000	0.59228	2.652000	0.90054	0.591000	0.81541	CGG		0.592	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		19	34	0	0	0	1	0	19	34				
PTPRM	5797	broad.mit.edu	37	18	8088840	8088840	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:8088840C>A	ENST00000332175.8	+	11	2884	c.1847C>A	c.(1846-1848)gCa>gAa	p.A616E	PTPRM_ENST00000400060.4_Missense_Mutation_p.A616E|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.A403E|PTPRM_ENST00000580170.1_Missense_Mutation_p.A616E|PTPRM_ENST00000400053.4_Missense_Mutation_p.A554E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	616	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGCAGAGGAGCACCTGTCAGG	0.468																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1846-1848)gCa>gAa		protein tyrosine phosphatase, receptor type, M							83.0	75.0	77.0					18																	8088840		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8088840C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1847C>A	18.37:g.8088840C>A	ENSP00000331418:p.Ala616Glu					PTPRM_ENST00000400060.4_Missense_Mutation_p.A616E|PTPRM_ENST00000400053.4_Missense_Mutation_p.A554E|PTPRM_ENST00000444013.1_Missense_Mutation_p.A403E|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.A616E	p.A616E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			11	2884	+		Colorectal(10;0.234)	616			Fibronectin type-III 4.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1847C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754290	0.89843	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.51574	1.02;0.99;0.84;0.7	5.33	5.33	0.75918	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.991;0.991	T	0.72534	-0.4264	10	0.52906	T	0.07	.	19.3983	0.94617	0.0:1.0:0.0:0.0	.	403;616;616	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	E	616;616;554;403	ENSP00000331418:A616E;ENSP00000382933:A616E;ENSP00000382927:A554E;ENSP00000387608:A403E	ENSP00000331418:A616E	A	+	2	0	PTPRM	8078840	1.000000	0.71417	0.937000	0.37676	0.995000	0.86356	7.729000	0.84864	2.649000	0.89929	0.650000	0.86243	GCA		0.468	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			22	53	1	0	0.000175454	1	0.000178603	22	53				
HYAL1	3373	broad.mit.edu	37	3	50339662	50339662	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:50339662G>A	ENST00000266031.4	-	1	1341	c.726C>T	c.(724-726)ctC>ctT	p.L242L	HYAL1_ENST00000395144.2_Silent_p.L242L|NAT6_ENST00000443842.1_5'Flank|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000320295.8_Silent_p.L242L|HYAL1_ENST00000457214.2_Silent_p.L60L|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000395143.2_Silent_p.L242L|HYAL1_ENST00000447605.2_Intron|NAT6_ENST00000354862.4_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	242					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGGGATAGAGGGCACGGC	0.597																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(724-726)ctC>ctT		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						57.0	53.0	54.0					3																	50339662		2203	4300	6503	SO:0001819	synonymous_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50339662G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.726C>T	3.37:g.50339662G>A						HYAL1_ENST00000395143.2_Silent_p.L242L|HYAL1_ENST00000395144.2_Silent_p.L242L|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Silent_p.L60L|HYAL1_ENST00000320295.8_Silent_p.L242L	p.L242L			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1341	-			242					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Silent	SNP	ENST00000266031.4	37	c.726C>T	CCDS2816.1																																																																																				0.597	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			20	62	0	0	0	1	0	20	62				
BTNL2	56244	broad.mit.edu	37	6	32364031	32364031	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:32364031T>G	ENST00000374993.1	-	5	862	c.863A>C	c.(862-864)tAc>tCc	p.Y288S	BTNL2_ENST00000544175.1_Missense_Mutation_p.Y11S|BTNL2_ENST00000374995.3_Missense_Mutation_p.Y194S|BTNL2_ENST00000454136.3_Missense_Mutation_p.Y288S|BTNL2_ENST00000540315.1_Missense_Mutation_p.Y78S|BTNL2_ENST00000414363.1_Missense_Mutation_p.Y78S|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000429232.2_Missense_Mutation_p.Y195S	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	288	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACAGCAGGGTAACGGTGGGA	0.552																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(862-864)tAc>tCc		butyrophilin-like 2 (MHC class II associated)							133.0	93.0	107.0					6																	32364031		1511	2709	4220	SO:0001583	missense	56244					integral to membrane		g.chr6:32364031T>G	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.863A>C	6.37:g.32364031T>G	ENSP00000364132:p.Tyr288Ser					BTNL2_ENST00000374995.3_Missense_Mutation_p.Y194S|BTNL2_ENST00000429232.2_Missense_Mutation_p.Y195S|BTNL2_ENST00000414363.1_Missense_Mutation_p.Y78S|BTNL2_ENST00000544175.1_Missense_Mutation_p.Y11S|BTNL2_ENST00000540315.1_Missense_Mutation_p.Y78S|BTNL2_ENST00000374993.1_Missense_Mutation_p.Y288S	p.Y288S			Q9UIR0	BTNL2_HUMAN			5	867	-			288			Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.863A>C		.	.	.	.	.	.	.	.	.	.	t	2.105	-0.405026	0.04832	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175;ENST00000429232	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.16	-3.65	0.04502	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.705102	0.12404	N	0.471913	T	0.04952	0.0133	N	0.01771	-0.73	0.09310	N	1	D;B	0.61080	0.989;0.201	P;B	0.55345	0.774;0.2	T	0.16070	-1.0415	10	0.72032	D	0.01	.	2.475	0.04574	0.221:0.0733:0.3384:0.3673	.	78;288	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	S	288;194;78;288;78;11;195	ENSP00000364134:Y194S;ENSP00000390512:Y78S;ENSP00000364132:Y288S;ENSP00000444714:Y78S;ENSP00000443364:Y11S;ENSP00000411166:Y195S	ENSP00000364132:Y288S	Y	-	2	0	BTNL2	32472009	0.000000	0.05858	0.060000	0.19600	0.992000	0.81027	0.116000	0.15561	-0.134000	0.11516	0.505000	0.49811	TAC		0.552	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		18	32	0	0	0	1	0	18	32				
OR13C9	286362	broad.mit.edu	37	9	107379601	107379601	+	Silent	SNP	G	G	A	rs369126446		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:107379601G>A	ENST00000259362.1	-	1	884	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	295						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(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAAGACTGTAGATTAAAGGAT	0.393																																						ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(883-885)atC>atT		olfactory receptor, family 13, subfamily C, member 9							167.0	161.0	163.0					9																	107379601		2203	4298	6501	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379601G>A		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.885C>T	9.37:g.107379601G>A							p.I295I	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	884	-			295					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.885C>T	CCDS35093.1																																																																																				0.393	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			45	176	0	0	0	1	0	45	176				
SPPL2A	84888	broad.mit.edu	37	15	51041871	51041871	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:51041871G>A	ENST00000261854.5	-	2	413	c.139C>T	c.(139-141)Cct>Tct	p.P47S	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	47					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GTCCAATAAGGGTTATAAAGC	0.418																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(139-141)Cct>Tct		signal peptide peptidase like 2A							153.0	148.0	150.0					15																	51041871		2196	4294	6490	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51041871G>A		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.139C>T	15.37:g.51041871G>A	ENSP00000261854:p.Pro47Ser					RP11-507J18.2_ENST00000558317.1_RNA	p.P47S	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	2	413	-			47					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.139C>T	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730862	0.48939	.	.	ENSG00000138600	ENST00000261854	T	0.09350	2.99	5.72	2.73	0.32206	.	0.429921	0.28312	N	0.015802	T	0.03827	0.0108	N	0.11673	0.155	0.20926	N	0.999824	B	0.13594	0.008	B	0.23574	0.047	T	0.41520	-0.9504	10	0.06757	T	0.87	-2.626	0.9849	0.01443	0.2114:0.1323:0.3686:0.2878	.	47	Q8TCT8	PSL2_HUMAN	S	47	ENSP00000261854:P47S	ENSP00000261854:P47S	P	-	1	0	AC012100.1	48829163	1.000000	0.71417	0.787000	0.31911	0.990000	0.78478	1.193000	0.32162	0.301000	0.22738	0.650000	0.86243	CCT		0.418	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		5	151	0	0	0	1	0	5	151				
ZNF252P	286101	broad.mit.edu	37	8	146220599	146220599	+	RNA	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:146220599G>A	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						AGTGTGTTTTGAGAGCAAGGA	0.403																																						ENST00000426361.2																			0				endometrium(1)	1																																														286101							g.chr8:146220599G>A	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220599G>A								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.403	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		30	84	0	0	0	1	0	30	84				
SLC26A6	65010	broad.mit.edu	37	3	48665936	48665936	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:48665936C>T	ENST00000395550.2	-	16	1778	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	SLC26A6_ENST00000455886.2_Silent_p.K541K|SLC26A6_ENST00000420764.2_Silent_p.K577K|SLC26A6_ENST00000383733.3_Silent_p.K577K|SLC26A6_ENST00000358747.6_Silent_p.K556K|SLC26A6_ENST00000337000.8_Silent_p.K470K			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	577	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGAGCAGTTTCTTCTTCTGGG	0.552																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1666-1668)aaG>aaA		solute carrier family 26 (anion exchanger), member 6							105.0	111.0	109.0					3																	48665936		2014	4197	6211	SO:0001819	synonymous_variant	65010							g.chr3:48665936C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1731G>A	3.37:g.48665936C>T						SLC26A6_ENST00000455886.2_Silent_p.K541K|SLC26A6_ENST00000395550.2_Silent_p.K577K|SLC26A6_ENST00000337000.8_Silent_p.K470K|SLC26A6_ENST00000420764.2_Silent_p.K577K|SLC26A6_ENST00000383733.3_Silent_p.K577K	p.K556K	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	15	1918	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	c.1668G>A	CCDS43087.1																																																																																				0.552	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		7	150	0	0	0	1	0	7	150				
INTS6-AS1	100507398	broad.mit.edu	37	13	52035183	52035183	+	RNA	SNP	A	A	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:52035183A>G	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000596303.1_RNA					INTS6 antisense RNA 1																		ATTTCATCAAATTCGACACTG	0.463																																						ENST00000594959.1																			0																																																			100507398							g.chr13:52035183A>G	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035183A>G						INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596180.1_RNA								0	411	+									RNA	SNP	ENST00000594959.1	37																																																																																						0.463	INTS6-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462289.1			4	37	0	0	0	1	0	4	37				
MUC17	140453	broad.mit.edu	37	7	100675301	100675301	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100675301G>A	ENST00000306151.4	+	3	668	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	202	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTACTCCTGAAAGCACCAC	0.458																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(604-606)Gaa>Aaa		mucin 17, cell surface associated							185.0	182.0	183.0					7																	100675301		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675301G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.604G>A	7.37:g.100675301G>A	ENSP00000302716:p.Glu202Lys						p.E202K	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	668	+	Lung NSC(181;0.136)|all_lung(186;0.182)		202			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.604G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	7.561	0.664686	0.14710	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.801	0.801	0.18679	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.28638	0.092	T	0.31833	-0.9929	9	0.06625	T	0.88	.	4.9541	0.14031	0.0:0.0:1.0:0.0	.	202	Q685J3	MUC17_HUMAN	K	202	ENSP00000302716:E202K	ENSP00000302716:E202K	E	+	1	0	MUC17	100462021	0.000000	0.05858	0.005000	0.12908	0.098000	0.18820	-1.689000	0.01923	0.727000	0.32360	0.196000	0.17591	GAA		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	305	0	0	0	1	0	10	305				
ZSCAN18	65982	broad.mit.edu	37	19	58601584	58601584	+	Silent	SNP	C	C	T	rs531440981		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:58601584C>T	ENST00000240727.6	-	2	450	c.51G>A	c.(49-51)ccG>ccA	p.P17P	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Silent_p.P73P|ZSCAN18_ENST00000601144.1_Silent_p.P17P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	17					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCAGATCCGGCGGGGCTGGGG	0.627																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(49-51)ccG>ccA		zinc finger and SCAN domain containing 18																																				SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601584C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.51G>A	19.37:g.58601584C>T						ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Silent_p.P73P|ZSCAN18_ENST00000601144.1_Silent_p.P17P	p.P17P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	2	450	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	17					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.51G>A	CCDS12971.1																																																																																				0.627	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		40	94	0	0	0	1	0	40	94				
RBBP7	5931	broad.mit.edu	37	X	16887263	16887263	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:16887263G>C	ENST00000380087.2	-	2	457	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	RBBP7_ENST00000404022.1_Missense_Mutation_p.L33V|RBBP7_ENST00000380084.4_Missense_Mutation_p.L77V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	33					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GTCATAACCAGGTCATATAGA	0.403																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(97-99)Ctg>Gtg		retinoblastoma binding protein 7							126.0	111.0	116.0					X																	16887263		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887263G>C	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.97C>G	X.37:g.16887263G>C	ENSP00000369427:p.Leu33Val					RBBP7_ENST00000380084.4_Missense_Mutation_p.L77V|RBBP7_ENST00000404022.1_Missense_Mutation_p.L33V	p.L33V			Q16576	RBBP7_HUMAN			2	457	-	Hepatocellular(33;0.0997)		33					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.97C>G	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535156	0.64972	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000493145	T;T;T	0.72282	-0.41;-0.64;-0.48	5.51	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.78456	2.415	0.51482	D	0.999923	B;B;B	0.21753	0.022;0.045;0.06	B;B;B	0.24701	0.027;0.055;0.039	T	0.72312	-0.4331	10	0.87932	D	0	-2.0313	10.0001	0.41924	0.1462:0.0:0.8538:0.0	.	33;33;77	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	V	33;77;33;30	ENSP00000369427:L33V;ENSP00000369424:L77V;ENSP00000386068:L33V	ENSP00000369424:L77V	L	-	1	2	RBBP7	16797184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.794000	0.47853	2.287000	0.76781	0.594000	0.82650	CTG		0.403	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		38	24	0	0	0	1	0	38	24				
SPIN4	139886	broad.mit.edu	37	X	62570369	62570369	+	Missense_Mutation	SNP	G	G	C	rs375406099		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:62570369G>C	ENST00000335144.3	-	1	849	c.330C>G	c.(328-330)atC>atG	p.I110M	SPIN4_ENST00000374884.2_Missense_Mutation_p.I92M|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	110					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GTCGTGAATCGATACGAGGAG	0.488																																						ENST00000374884.2																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(274-276)atC>atG		spindlin family, member 4							90.0	89.0	89.0					X																	62570369		2050	4181	6231	SO:0001583	missense	139886				gamete generation			g.chrX:62570369G>C	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.330C>G	X.37:g.62570369G>C	ENSP00000334163:p.Ile110Met					SPIN4_ENST00000335144.3_Missense_Mutation_p.I110M|SPIN4-AS1_ENST00000451979.1_RNA	p.I92M			Q56A73	SPIN4_HUMAN			1	854	-			110					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.276C>G	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557384	0.45590	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.47528	0.85;0.84	4.73	-2.33	0.06724	.	0.064020	0.64402	D	0.000014	T	0.33118	0.0852	L	0.48642	1.525	0.32093	N	0.591557	B	0.29212	0.237	B	0.31390	0.129	T	0.14337	-1.0476	10	0.72032	D	0.01	-47.8034	3.7896	0.08715	0.3159:0.0:0.4048:0.2793	.	110	Q56A73	SPIN4_HUMAN	M	92;110	ENSP00000364018:I92M;ENSP00000334163:I110M	ENSP00000334163:I110M	I	-	3	3	SPIN4	62487094	0.993000	0.37304	0.889000	0.34880	0.987000	0.75469	0.263000	0.18478	-0.773000	0.04596	0.544000	0.68410	ATC		0.488	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		3	36	0	0	0	1	0	3	36				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	74	0	0	0	1	0	4	74				
ADAMTS17	170691	broad.mit.edu	37	15	100537776	100537776	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:100537776C>A	ENST00000268070.4	-	19	2715	c.2610G>T	c.(2608-2610)tgG>tgT	p.W870C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	870	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGCAGGGGCTCCACGGGCCTG	0.667																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2608-2610)tgG>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							29.0	30.0	29.0					15																	100537776		2203	4299	6502	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537776C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2610G>T	15.37:g.100537776C>A	ENSP00000268070:p.Trp870Cys						p.W870C	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	19	2715	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		870			TSP type-1 3.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2610G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787032	0.70337	.	.	ENSG00000140470	ENST00000268070	T	0.77489	-1.1	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	D	0.93657	0.7974	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96538	0.9398	10	0.87932	D	0	.	18.639	0.91389	0.0:1.0:0.0:0.0	.	870	Q8TE56	ATS17_HUMAN	C	870	ENSP00000268070:W870C	ENSP00000268070:W870C	W	-	3	0	ADAMTS17	98355299	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.975000	0.76128	2.385000	0.81259	0.563000	0.77884	TGG		0.667	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		36	65	1	0	1.04594e-18	1	1.11623e-18	36	65				
ZNF208	7757	broad.mit.edu	37	19	22155264	22155264	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:22155264C>T	ENST00000397126.4	-	4	2720	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	858					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2572-2574)Gag>Aag		zinc finger protein 208							39.0	42.0	41.0					19																	22155264		2027	4206	6233	SO:0001583	missense	7757							g.chr19:22155264C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2572G>A	19.37:g.22155264C>T	ENSP00000380315:p.Glu858Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.E858K	NM_007153.3	NP_009084.2					4	2720	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2572G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370842	0.42003	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.24350	1.86	2.58	2.58	0.30949	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46964	0.1420	.	.	.	0.34693	D	0.725906	D	0.76494	0.999	D	0.74674	0.984	T	0.60677	-0.7216	8	0.62326	D	0.03	.	10.0864	0.42421	0.0:1.0:0.0:0.0	.	758	O43345	ZN208_HUMAN	K	858;758	ENSP00000380315:E858K	ENSP00000380315:E858K	E	-	1	0	ZNF208	21947104	0.085000	0.21516	0.500000	0.27589	0.563000	0.35712	1.082000	0.30803	1.024000	0.39682	0.289000	0.19496	GAG		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	82	0	0	0	1	0	4	82				
AGTRAP	57085	broad.mit.edu	37	1	11807587	11807587	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:11807587C>T	ENST00000314340.5	+	3	207	c.153C>T	c.(151-153)atC>atT	p.I51I	AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000376637.3_Nonsense_Mutation_p.R40*|AGTRAP_ENST00000400895.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000376629.4_Silent_p.I51I|AGTRAP_ENST00000452018.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000376627.2_Nonsense_Mutation_p.R96*	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	51					regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACTCCATCGACGCCATAA	0.637																																						ENST00000376637.3																		AGTRAP/BRAF(2)	0				endometrium(1)|lung(3)|prostate(1)	5						c.(118-120)Cga>Tga		angiotensin II receptor-associated protein							108.0	106.0	107.0					1																	11807587		2203	4300	6503	SO:0001819	synonymous_variant	57085					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr1:11807587C>T	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.153C>T	1.37:g.11807587C>T						AGTRAP_ENST00000376627.2_Nonsense_Mutation_p.R96*|AGTRAP_ENST00000376629.4_Silent_p.I51I|AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000400895.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000314340.5_Silent_p.I51I	p.R40*	NM_001040195.1	NP_001035285.1	Q6RW13	ATRAP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	2	243	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0					A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Nonsense_Mutation	SNP	ENST00000314340.5	37	c.118C>T	CCDS136.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505554	0.44558	.	.	ENSG00000177674	ENST00000376637;ENST00000400895;ENST00000376627;ENST00000452018	.	.	.	5.16	-10.3	0.00346	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6999	0.17877	0.0683:0.1701:0.304:0.4576	.	.	.	.	X	40;84;96;84	.	ENSP00000365814:R96X	R	+	1	2	AGTRAP	11730174	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-5.006000	0.00160	-3.354000	0.00180	-1.159000	0.01794	CGA		0.637	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350		51	126	0	0	0	1	0	51	126				
OR51B6	390058	broad.mit.edu	37	11	5373015	5373015	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:5373015G>C	ENST00000380219.1	+	1	278	c.278G>C	c.(277-279)gGa>gCa	p.G93A	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	93					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGGCCATGGAGCCTGCTTC	0.488																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(277-279)gGa>gCa		olfactory receptor, family 51, subfamily B, member 6							130.0	122.0	125.0					11																	5373015		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373015G>C		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.278G>C	11.37:g.5373015G>C	ENSP00000369568:p.Gly93Ala					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	p.G93A	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	278	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	93						Missense_Mutation	SNP	ENST00000380219.1	37	c.278G>C	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	0.113	-1.135293	0.01742	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.02787	4.16	5.01	-1.57	0.08506	GPCR, rhodopsin-like superfamily (1);	1.317590	0.05142	N	0.494435	T	0.01800	0.0057	N	0.10916	0.065	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47535	-0.9110	10	0.52906	T	0.07	.	2.3717	0.04332	0.2696:0.3013:0.3251:0.1039	.	93	Q9H340	O51B6_HUMAN	A	92;93	ENSP00000369568:G93A	ENSP00000369568:G93A	G	+	2	0	OR51B6	5329591	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.196000	0.03041	-0.823000	0.04301	-2.157000	0.00329	GGA		0.488	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		32	59	0	0	0	1	0	32	59				
COL11A1	1301	broad.mit.edu	37	1	103544224	103544224	+	Missense_Mutation	SNP	C	C	T	rs146954848		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:103544224C>T	ENST00000370096.3	-	3	790	c.478G>A	c.(478-480)Gct>Act	p.A160T	COL11A1_ENST00000358392.2_Missense_Mutation_p.A160T|COL11A1_ENST00000512756.1_Missense_Mutation_p.A160T|COL11A1_ENST00000353414.4_Missense_Mutation_p.A160T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	160	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCGTCAGCGATGTTAACA	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		15875	0.0		0.0	False		,,,				2504	0.001					ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(478-480)Gct>Act		collagen, type XI, alpha 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	77.0	81.0	80.0		478,478,478,478	5.5	0.9	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	160/1768,160/1807,160/1819,160/1691	103544224	1,13005	2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544224C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.478G>A	1.37:g.103544224C>T	ENSP00000359114:p.Ala160Thr					COL11A1_ENST00000512756.1_Missense_Mutation_p.A160T|COL11A1_ENST00000370096.3_Missense_Mutation_p.A160T|COL11A1_ENST00000353414.4_Missense_Mutation_p.A160T	p.A160T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	795	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	160			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.478G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668557	0.67814	0.0	1.16E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.85570	0.5727	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.85130	0.996;0.994;0.996;0.997	T	0.81675	-0.0825	10	0.22706	T	0.39	.	19.4381	0.94806	0.0:1.0:0.0:0.0	.	160;160;160;160	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	160;160;160;160;160;87	ENSP00000359114:A160T;ENSP00000351163:A160T;ENSP00000302551:A160T;ENSP00000426533:A160T;ENSP00000408640:A160T;ENSP00000410177:A87T	ENSP00000302551:A160T	A	-	1	0	COL11A1	103316812	1.000000	0.71417	0.917000	0.36280	0.868000	0.49771	7.818000	0.86416	2.602000	0.87976	0.650000	0.86243	GCT		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	52	0	0	0	1	0	15	52				
NUP205	23165	broad.mit.edu	37	7	135272678	135272678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:135272678C>T	ENST00000285968.6	+	10	1437	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	471					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGAGCCTCTTCAGACTCCGAC	0.468																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1411-1413)Cag>Tag		nucleoporin 205kDa							78.0	78.0	78.0					7																	135272678		2203	4300	6503	SO:0001587	stop_gained	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135272678C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1411C>T	7.37:g.135272678C>T	ENSP00000285968:p.Gln471*					NUP205_ENST00000440390.2_Intron	p.Q471*	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			10	1437	+			471					A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	c.1411C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	39	7.515918	0.98332	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-28.8577	20.1649	0.98147	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000285968:Q471X	Q	+	1	0	NUP205	134923218	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.701000	0.84566	2.753000	0.94483	0.655000	0.94253	CAG		0.468	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			14	66	0	0	0	1	0	14	66				
KIF23	9493	broad.mit.edu	37	15	69733177	69733177	+	Missense_Mutation	SNP	G	G	A	rs370717019	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:69733177G>A	ENST00000260363.4	+	18	2255	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H	KIF23_ENST00000537891.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.R713H|KIF23_ENST00000352331.4_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	713					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTACATAGGCGCTCTAACTCT	0.423																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2137-2139)cGc>cAc		kinesin family member 23							63.0	62.0	62.0					15																	69733177		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69733177G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2138G>A	15.37:g.69733177G>A	ENSP00000260363:p.Arg713His					KIF23_ENST00000352331.4_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.R713H	p.R713H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			18	2255	+			713					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2138G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132526	0.77662	.	.	ENSG00000137807	ENST00000260363;ENST00000395392	T;T	0.74632	-0.86;-0.86	5.5	5.5	0.81552	.	0.066577	0.64402	D	0.000017	T	0.63248	0.2495	N	0.25485	0.75	0.80722	D	1	D	0.54047	0.964	B	0.37346	0.247	T	0.71017	-0.4714	10	0.72032	D	0.01	.	18.7421	0.91777	0.0:0.0:1.0:0.0	.	713	Q02241	KIF23_HUMAN	H	713	ENSP00000260363:R713H;ENSP00000378790:R713H	ENSP00000260363:R713H	R	+	2	0	KIF23	67520231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.919000	0.63383	2.740000	0.93945	0.650000	0.86243	CGC		0.423	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				18	31	0	0	0	1	0	18	31				
THBS3	7059	broad.mit.edu	37	1	155167839	155167839	+	Silent	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:155167839G>T	ENST00000368378.3	-	18	2267	c.2247C>A	c.(2245-2247)ctC>ctA	p.L749L	RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Silent_p.L278L|MIR92B_ENST00000607575.1_RNA|THBS3_ENST00000541576.1_Silent_p.L146L|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Silent_p.L629L|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	749	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTACCTGGTTGAGCACAACCC	0.572																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2245-2247)ctC>ctA		thrombospondin 3							94.0	82.0	86.0					1																	155167839		2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155167839G>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2247C>A	1.37:g.155167839G>T						THBS3_ENST00000541576.1_Silent_p.L146L|THBS3_ENST00000457183.2_Silent_p.L629L|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000428962.2_3'UTR|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000541990.1_Silent_p.L278L	p.L749L	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		18	2267	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		749			TSP C-terminal.		B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	c.2247C>A	CCDS1099.1																																																																																				0.572	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		19	45	1	0	3.32936e-07	1	3.45106e-07	19	45				
SIM1	6492	broad.mit.edu	37	6	100838258	100838258	+	Silent	SNP	A	A	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:100838258A>T	ENST00000369208.3	-	12	3062	c.2280T>A	c.(2278-2280)gtT>gtA	p.V760V	SIM1_ENST00000262901.4_Silent_p.V760V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	760	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGTTATTATAACAGATGTTC	0.378																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(2278-2280)gtT>gtA		single-minded family bHLH transcription factor 1							139.0	138.0	138.0					6																	100838258		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838258A>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2280T>A	6.37:g.100838258A>T						SIM1_ENST00000262901.4_Silent_p.V760V	p.V760V			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	3062	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	760			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.2280T>A	CCDS5045.1																																																																																				0.378	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		25	108	0	0	0	1	0	25	108				
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12								Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20								TBC1 domain family, member 12							13.0	14.0	14.0					10																	96162370		1622	3714	5336			23232					intracellular	Rab GTPase activator activity	g.chr10:96162370G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794		10.37:g.96162370G>A								NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			0	110	+		Colorectal(252;0.0429)						Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Translation_Start_Site	SNP	ENST00000225235.4	37		CCDS41553.1																																																																																				0.697	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			13	28	0	0	0	1	0	13	28				
TNS3	64759	broad.mit.edu	37	7	47454793	47454793	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:47454793A>T	ENST00000398879.1	-	11	851	c.485T>A	c.(484-486)tTc>tAc	p.F162Y	TNS3_ENST00000458317.2_Missense_Mutation_p.F162Y|TNS3_ENST00000311160.9_Missense_Mutation_p.F162Y|TNS3_ENST00000442536.2_Missense_Mutation_p.F162Y|TNS3_ENST00000355730.3_Missense_Mutation_p.F162Y			Q68CZ2	TENS3_HUMAN	tensin 3	162	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCCACTGAGGAACTGAACATA	0.532																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(484-486)tTc>tAc		tensin 3							70.0	81.0	77.0					7																	47454793		2021	4187	6208	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47454793A>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.485T>A	7.37:g.47454793A>T	ENSP00000381854:p.Phe162Tyr					TNS3_ENST00000311160.9_Missense_Mutation_p.F162Y|TNS3_ENST00000442536.2_Missense_Mutation_p.F162Y|TNS3_ENST00000355730.3_Missense_Mutation_p.F162Y|TNS3_ENST00000458317.2_Missense_Mutation_p.F162Y	p.F162Y			Q68CZ2	TENS3_HUMAN			11	851	-			162			Phosphatase tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.485T>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	A	8.505	0.865195	0.17250	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76	4.94	3.74	0.42951	Phosphatase tensin type (1);	0.205288	0.42053	D	0.000765	D	0.87434	0.6176	N	0.00009	-3.06	0.34750	D	0.731673	D;D	0.67145	0.962;0.996	B;P	0.57620	0.43;0.824	D	0.86150	0.1587	10	0.02654	T	1	-20.4758	7.9479	0.29998	0.8172:0.0:0.0:0.1828	.	162;162	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	Y	162;272;162;162;265;251;162;162	ENSP00000312143:F162Y;ENSP00000381854:F162Y;ENSP00000347968:F162Y;ENSP00000414358:F265Y;ENSP00000396914:F251Y;ENSP00000389285:F162Y;ENSP00000388318:F162Y	ENSP00000312143:F162Y	F	-	2	0	TNS3	47421318	1.000000	0.71417	0.778000	0.31720	0.866000	0.49608	3.072000	0.50049	0.784000	0.33661	0.533000	0.62120	TTC		0.532	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		7	25	0	0	0	1	0	7	25				
DCLK1	9201	broad.mit.edu	37	13	36700207	36700207	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:36700207C>T	ENST00000360631.3	-	2	279	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q|DCLK1_ENST00000255448.4_Missense_Mutation_p.R23Q			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	23					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCGCGACCCTCGGCTGTATCT	0.637																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(67-69)cGa>cAa		doublecortin-like kinase 1							61.0	62.0	62.0					13																	36700207		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700207C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.68G>A	13.37:g.36700207C>T	ENSP00000353846:p.Arg23Gln					DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R23Q	p.R23Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	279	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	23					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.68G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.120991	0.77436	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.70399	-0.48;-0.48;1.54	5.67	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.46157	1.445	0.37204	D	0.904529	B	0.20988	0.05	B	0.19666	0.026	T	0.68432	-0.5410	10	0.62326	D	0.03	.	16.6949	0.85333	0.0:0.8704:0.1296:0.0	.	23	O15075-2	.	Q	23	ENSP00000255448:R23Q;ENSP00000353846:R23Q;ENSP00000369222:R23Q	ENSP00000255448:R23Q	R	-	2	0	DCLK1	35598207	0.144000	0.22641	0.890000	0.34922	0.978000	0.69477	3.630000	0.54273	1.387000	0.46486	0.655000	0.94253	CGA		0.637	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		57	105	0	0	0	1	0	57	105				
GRM1	2911	broad.mit.edu	37	6	146720619	146720619	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:146720619C>T	ENST00000282753.1	+	7	2679	c.2444C>T	c.(2443-2445)aCt>aTt	p.T815I	GRM1_ENST00000507907.1_Missense_Mutation_p.T815I|GRM1_ENST00000361719.2_Missense_Mutation_p.T815I|GRM1_ENST00000392299.2_Missense_Mutation_p.T815I|GRM1_ENST00000355289.4_Missense_Mutation_p.T815I|GRM1_ENST00000492807.2_Missense_Mutation_p.T815I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	815					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCATCACAACTTGCTTTGCA	0.468																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2443-2445)aCt>aTt		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						159.0	127.0	138.0					6																	146720619		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720619C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2444C>T	6.37:g.146720619C>T	ENSP00000282753:p.Thr815Ile					GRM1_ENST00000355289.4_Missense_Mutation_p.T815I|GRM1_ENST00000492807.2_Missense_Mutation_p.T815I|GRM1_ENST00000361719.2_Missense_Mutation_p.T815I|GRM1_ENST00000507907.1_Missense_Mutation_p.T815I|GRM1_ENST00000282753.1_Missense_Mutation_p.T815I	p.T815I			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2914	+		Ovarian(120;0.0387)	815					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2444C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642443	0.47153	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.68	5.68	0.88126	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	N	0.20685	0.6	0.80722	D	1	B;D;P	0.89917	0.321;1.0;0.516	B;D;B	0.91635	0.281;0.999;0.281	D	0.89423	0.3711	10	0.62326	D	0.03	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	815;815;815	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	I	815	ENSP00000354896:T815I;ENSP00000376119:T815I;ENSP00000424095:T815I;ENSP00000282753:T815I;ENSP00000347437:T815I;ENSP00000425599:T815I	ENSP00000282753:T815I	T	+	2	0	GRM1	146762312	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	ACT		0.468	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		28	66	0	0	0	1	0	28	66				
CCR4	1233	broad.mit.edu	37	3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(934-936)cGc>cAc		chemokine (C-C motif) receptor 4							64.0	68.0	67.0					3																	32995849		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995849G>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.935G>A	3.37:g.32995849G>A	ENSP00000332659:p.Arg312His						p.R312H	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	1103	+			312					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.935G>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068896	0.76301	.	.	ENSG00000183813	ENST00000330953	T	0.58358	0.34	5.73	5.73	0.89815	.	0.107611	0.39210	N	0.001435	T	0.71986	0.3405	M	0.84948	2.725	0.48288	D	0.999625	D	0.89917	1.0	D	0.64506	0.926	T	0.76187	-0.3051	10	0.87932	D	0	.	11.2774	0.49174	0.1148:0.0:0.8852:0.0	.	312	P51679	CCR4_HUMAN	H	312	ENSP00000332659:R312H	ENSP00000332659:R312H	R	+	2	0	CCR4	32970853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.362000	0.59467	2.706000	0.92434	0.563000	0.77884	CGC		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			4	79	0	0	0	1	0	4	79				
FAM78A	286336	broad.mit.edu	37	9	134151451	134151451	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:134151451G>A	ENST00000372271.3	-	1	483	c.116C>T	c.(115-117)aCg>aTg	p.T39M		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	39										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		ATCAATCACCGTGATCCCTTC	0.602																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(115-117)aCg>aTg		family with sequence similarity 78, member A							98.0	81.0	87.0					9																	134151451		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134151451G>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.116C>T	9.37:g.134151451G>A	ENSP00000361345:p.Thr39Met						p.T39M	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	1	483	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	39					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.116C>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742522	0.69418	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	3.97	0.46021	.	0.355656	0.32753	N	0.005683	T	0.29288	0.0729	N	0.08118	0	0.30932	N	0.726839	B	0.15719	0.014	B	0.09377	0.004	T	0.21245	-1.0251	9	0.46703	T	0.11	-22.9556	14.6858	0.69049	0.0:0.1457:0.8543:0.0	.	39	Q5JUQ0	FA78A_HUMAN	M	39	.	ENSP00000361345:T39M	T	-	2	0	FAM78A	133141272	0.997000	0.39634	0.943000	0.38184	0.974000	0.67602	3.998000	0.57024	1.157000	0.42530	0.561000	0.74099	ACG		0.602	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		35	48	0	0	0	1	0	35	48				
SULT2B1	6820	broad.mit.edu	37	19	49079249	49079249	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:49079249C>T	ENST00000201586.2	+	2	301	c.123C>T	c.(121-123)gtC>gtT	p.V41V	SULT2B1_ENST00000323090.4_Silent_p.V26V	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	41					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCTTCCCCGTCGGCCTGTACT	0.592																																						ENST00000323090.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(76-78)gtC>gtT		sulfotransferase family, cytosolic, 2B, member 1							146.0	115.0	125.0					19																	49079249		2203	4300	6503	SO:0001819	synonymous_variant	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49079249C>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.123C>T	19.37:g.49079249C>T						SULT2B1_ENST00000201586.2_Silent_p.V41V	p.V26V	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	1	453	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	41					O00205|O75814	Silent	SNP	ENST00000201586.2	37	c.78C>T	CCDS12723.1																																																																																				0.592	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		6	144	0	0	0	1	0	6	144				
EMID1	129080	broad.mit.edu	37	22	29611568	29611568	+	Missense_Mutation	SNP	G	G	A	rs202038784		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:29611568G>A	ENST00000404820.3	+	3	395	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000334018.6_Missense_Mutation_p.A90T|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T			Q96A84	EMID1_HUMAN	EMI domain containing 1	90	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GATAGTGACCGCCCGTGAGTG	0.627																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(268-270)Gcc>Acc		EMI domain containing 1							105.0	96.0	99.0					22																	29611568		2203	4300	6503	SO:0001583	missense	129080					collagen		g.chr22:29611568G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.268G>A	22.37:g.29611568G>A	ENSP00000384452:p.Ala90Thr					EMID1_ENST00000404820.3_Missense_Mutation_p.A90T|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T|EMID1_ENST00000484039.1_3'UTR	p.A90T	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			3	456	+			90			EMI.		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.268G>A		.	.	.	.	.	.	.	.	.	.	G	12.33	1.904501	0.33628	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.43	-0.714	0.11219	EMI domain (2);	0.411389	0.20796	N	0.085523	T	0.23249	0.0562	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.18863	0.031;0.008;0.007;0.025	B;B;B;B	0.15052	0.011;0.006;0.012;0.004	T	0.26950	-1.0088	10	0.02654	T	1	-9.603	3.6494	0.08198	0.3772:0.0:0.4445:0.1783	.	90;90;90;90	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	T	90	ENSP00000335481:A90T;ENSP00000403816:A90T;ENSP00000385414:A90T;ENSP00000384452:A90T;ENSP00000399760:A90T	ENSP00000335481:A90T	A	+	1	0	EMID1	27941568	0.018000	0.18449	0.125000	0.21846	0.686000	0.39977	0.496000	0.22499	0.279000	0.22186	-0.448000	0.05591	GCC		0.627	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		22	65	0	0	0	1	0	22	65				
C1orf94	84970	broad.mit.edu	37	1	34663145	34663145	+	Missense_Mutation	SNP	G	G	A	rs202207825		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:34663145G>A	ENST00000488417.1	+	2	760	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	C1orf94_ENST00000373374.3_Missense_Mutation_p.A24T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	214										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTGTGCCGCCGAGGTCAA	0.562																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(640-642)Gcc>Acc		chromosome 1 open reading frame 94							81.0	72.0	75.0					1																	34663145		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663145G>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.640G>A	1.37:g.34663145G>A	ENSP00000435634:p.Ala214Thr					C1orf94_ENST00000373374.3_Missense_Mutation_p.A24T	p.A214T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			2	760	+		Myeloproliferative disorder(586;0.0393)	24					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.640G>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	6.827	0.521702	0.13005	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.39406	1.08;1.08	4.98	3.11	0.35812	.	0.228743	0.30869	N	0.008713	T	0.27900	0.0687	L	0.31752	0.955	0.29099	N	0.881603	B	0.18013	0.025	B	0.15052	0.012	T	0.14671	-1.0464	10	0.38643	T	0.18	-11.7857	7.8188	0.29276	0.1947:0.0:0.8053:0.0	.	214	Q6P1W5	CA094_HUMAN	T	24;214	ENSP00000362472:A24T;ENSP00000435634:A214T	ENSP00000362472:A24T	A	+	1	0	C1orf94	34435732	0.788000	0.28762	0.675000	0.29917	0.025000	0.11179	1.389000	0.34453	0.508000	0.28173	-0.244000	0.11960	GCC		0.562	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		22	79	0	0	0	1	0	22	79				
USP22	23326	broad.mit.edu	37	17	20921341	20921341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:20921341C>A	ENST00000261497.4	-	5	807	c.604G>T	c.(604-606)Gac>Tac	p.D202Y	USP22_ENST00000537526.2_Missense_Mutation_p.D190Y|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	202	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AGGAAGAAGTCCCGCAGAAGT	0.567																																						ENST00000261497.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(604-606)Gac>Tac		ubiquitin specific peptidase 22							119.0	128.0	125.0					17																	20921341		2103	4236	6339	SO:0001583	missense	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20921341C>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.604G>T	17.37:g.20921341C>A	ENSP00000261497:p.Asp202Tyr					USP22_ENST00000537526.2_Missense_Mutation_p.D190Y|USP22_ENST00000455117.2_Intron	p.D202Y	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			5	807	-			202					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	c.604G>T	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.447977	0.43429	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.34472	1.36;1.36	4.22	4.22	0.49857	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.66701	-0.5857	10	0.87932	D	0	.	16.9222	0.86166	0.0:1.0:0.0:0.0	.	190;202	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	Y	270;190;202	ENSP00000440950:D190Y;ENSP00000261497:D202Y	ENSP00000261497:D202Y	D	-	1	0	USP22	20861933	1.000000	0.71417	0.895000	0.35142	0.920000	0.55202	6.976000	0.76135	2.054000	0.61138	0.563000	0.77884	GAC		0.567	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			31	93	1	0	6.84511e-11	1	7.20825e-11	31	93				
ANKRD12	23253	broad.mit.edu	37	18	9211769	9211769	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:9211769G>A	ENST00000262126.4	+	6	879	c.639G>A	c.(637-639)gtG>gtA	p.V213V	ANKRD12_ENST00000400020.3_Silent_p.V190V|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Silent_p.V190V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	213						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGTGAATGTGAAAGATTTTG	0.323																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(568-570)gtG>gtA		ankyrin repeat domain 12							75.0	77.0	77.0					18																	9211769		2203	4300	6503	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9211769G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.639G>A	18.37:g.9211769G>A						ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Silent_p.V190V|ANKRD12_ENST00000262126.3_Silent_p.V213V	p.V190V	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			5	827	+			213					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.570G>A	CCDS11843.1																																																																																				0.323	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		16	48	0	0	0	1	0	16	48				
IQSEC1	9922	broad.mit.edu	37	3	12962069	12962069	+	Silent	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:12962069C>A	ENST00000273221.4	-	6	2139	c.1923G>T	c.(1921-1923)ggG>ggT	p.G641G		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	641	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGCACCACCCCAGGGTTGC	0.642																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1921-1923)ggG>ggT		IQ motif and Sec7 domain 1							121.0	109.0	113.0					3																	12962069		2203	4300	6503	SO:0001819	synonymous_variant	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12962069C>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1923G>T	3.37:g.12962069C>A							p.G641G	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			6	2139	-			641			SEC7.		O94863|Q96D85	Silent	SNP	ENST00000273221.4	37	c.1923G>T	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	C	6.630	0.484635	0.12641	.	.	ENSG00000144711	ENST00000450726	T	0.78246	-1.16	4.59	-0.784	0.10954	.	0.239023	0.42172	D	0.000742	T	0.75332	0.3835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68337	-0.5435	7	0.72032	D	0.01	.	3.5214	0.07744	0.1047:0.2964:0.3946:0.2043	.	.	.	.	C	642	ENSP00000397811:G642C	ENSP00000397811:G642C	G	-	1	0	IQSEC1	12937069	0.000000	0.05858	0.473000	0.27253	0.678000	0.39670	-2.404000	0.01045	-0.552000	0.06167	-1.008000	0.02478	GGT		0.642	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		4	136	1	0	0.150653	1	0.150653	4	136				
IGDCC4	57722	broad.mit.edu	37	15	65680850	65680850	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:65680850C>G	ENST00000352385.2	-	16	2991	c.2782G>C	c.(2782-2784)Gag>Cag	p.E928Q	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	928	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTCCCACCTCTGTGCGCGCC	0.607																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2782-2784)Gag>Cag		immunoglobulin superfamily, DCC subclass, member 4							116.0	111.0	112.0					15																	65680850		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65680850C>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2782G>C	15.37:g.65680850C>G	ENSP00000319623:p.Glu928Gln						p.E928Q	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			16	2991	-			928			Fibronectin type-III 5.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2782G>C	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668621	0.88348	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.57107	0.42	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149819	0.44285	D	0.000471	T	0.61912	0.2385	L	0.31578	0.945	0.53005	D	0.999961	D	0.76494	0.999	D	0.68621	0.959	T	0.61367	-0.7077	10	0.39692	T	0.17	-25.0599	18.637	0.91382	0.0:1.0:0.0:0.0	.	928	Q8TDY8	IGDC4_HUMAN	Q	928;657	ENSP00000319623:E928Q	ENSP00000319623:E928Q	E	-	1	0	IGDCC4	63467903	0.993000	0.37304	0.997000	0.53966	0.988000	0.76386	3.121000	0.50438	2.403000	0.81681	0.561000	0.74099	GAG		0.607	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		72	184	0	0	0	1	0	72	184				
NEGR1	257194	broad.mit.edu	37	1	72241958	72241958	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:72241958G>C	ENST00000357731.5	-	3	671	c.432C>G	c.(430-432)atC>atG	p.I144M	NEGR1_ENST00000306821.3_Missense_Mutation_p.I16M|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.I142M	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	144	Ig-like C2-type 2.				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)		TATCATTTGAGATGTCATATA	0.368																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(430-432)atC>atG		neuronal growth regulator 1							96.0	88.0	91.0					1																	72241958		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72241958G>C	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.432C>G	1.37:g.72241958G>C	ENSP00000350364:p.Ile144Met					NEGR1_ENST00000306821.3_Missense_Mutation_p.I16M|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.I142M	p.I144M	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)	3	671	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	144			Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.432C>G	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178827	0.57692	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.68331	-0.32;-0.32;-0.32	5.97	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.43152	1.355	0.53005	D	0.999968	D;P	0.55385	0.971;0.948	D;P	0.64877	0.93;0.771	T	0.66567	-0.5891	10	0.49607	T	0.09	-14.6215	11.5191	0.50541	0.1454:0.0:0.8546:0.0	.	142;144	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	M	144;16;142	ENSP00000350364:I144M;ENSP00000305938:I16M;ENSP00000413294:I142M	ENSP00000305938:I16M	I	-	3	3	NEGR1	72014546	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	1.173000	0.31920	0.877000	0.35895	0.655000	0.94253	ATC		0.368	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		3	34	0	0	0	1	0	3	34				
CABP1	9478	broad.mit.edu	37	12	121098056	121098056	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:121098056G>A	ENST00000316803.3	+	3	877	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	CABP1_ENST00000351200.2_Missense_Mutation_p.R45Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R105Q|CABP1_ENST00000453000.1_Missense_Mutation_p.R184Q	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	248	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCAACTGCCGGGATCTGGGC	0.567																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(550-552)cGg>cAg		calcium binding protein 1							128.0	110.0	116.0					12																	121098056		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098056G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.743G>A	12.37:g.121098056G>A	ENSP00000317310:p.Arg248Gln					CABP1_ENST00000316803.3_Missense_Mutation_p.R248Q|CABP1_ENST00000351200.2_Missense_Mutation_p.R45Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R105Q	p.R184Q			Q9NZU7	CABP1_HUMAN			3	1063	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		248					O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.551G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989797	0.74589	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.3	5.3	0.74995	EF-hand-like domain (1);	0.054587	0.64402	D	0.000001	T	0.55305	0.1912	N	0.17345	0.48	0.39354	D	0.965808	D;B;P;P	0.61080	0.989;0.352;0.934;0.78	P;B;B;B	0.57425	0.82;0.071;0.345;0.412	T	0.61710	-0.7007	10	0.62326	D	0.03	-18.2641	12.3289	0.55028	0.0777:0.0:0.9223:0.0	.	184;45;105;248	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	Q	248;105;45;184	ENSP00000317310:R248Q;ENSP00000288616:R105Q;ENSP00000288615:R45Q;ENSP00000398959:R184Q	ENSP00000288616:R105Q	R	+	2	0	CABP1	119582439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.295000	0.72744	2.482000	0.83794	0.591000	0.81541	CGG		0.567	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		21	68	0	0	0	1	0	21	68				
ADCY8	114	broad.mit.edu	37	8	132052561	132052561	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:132052561G>A	ENST00000286355.5	-	1	2111	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R7C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	7					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTAAGGCAGCGCACATCGGAG	0.692										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(19-21)Cgc>Tgc		adenylate cyclase 8 (brain)							6.0	7.0	6.0					8																	132052561		2083	4059	6142	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132052561G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.19C>T	8.37:g.132052561G>A	ENSP00000286355:p.Arg7Cys	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R7C	p.R7C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2111	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		7						Missense_Mutation	SNP	ENST00000286355.5	37	c.19C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988565	0.53934	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.64991	-0.13;-0.13	4.47	4.47	0.54385	.	0.086634	0.46442	D	0.000292	T	0.64778	0.2629	N	0.22421	0.69	0.43777	D	0.996306	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	T	0.68318	-0.5440	10	0.87932	D	0	.	11.1413	0.48404	0.0:0.0:0.8154:0.1846	.	7;7	E7EVL1;P40145	.;ADCY8_HUMAN	C	7	ENSP00000286355:R7C;ENSP00000367161:R7C	ENSP00000286355:R7C	R	-	1	0	ADCY8	132121743	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.696000	0.47052	2.339000	0.79563	0.462000	0.41574	CGC		0.692	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			14	23	0	0	0	1	0	14	23				
HIST1H4I	8294	broad.mit.edu	37	6	27107285	27107285	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:27107285G>A	ENST00000354348.2	+	1	210	c.198G>A	c.(196-198)gtG>gtA	p.V66V	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(1)	1						TGGAGAACGTGATCCGGGACG	0.647			T	BCL6	NHL																																	ENST00000354348.2				Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		0				lung(1)	1						c.(196-198)gtG>gtA		histone cluster 1, H4i							81.0	74.0	76.0					6																	27107285		2203	4300	6503	SO:0001819	synonymous_variant	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107285G>A	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.198G>A	6.37:g.27107285G>A						HIST1H2BK_ENST00000396891.4_Intron	p.V66V	NM_003495.2	NP_003486.1	P62805	H4_HUMAN			1	210	+			66					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000354348.2	37	c.198G>A	CCDS4620.1																																																																																				0.647	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495		4	105	0	0	0	1	0	4	105				
EZH2	2146	broad.mit.edu	37	7	148525892	148525892	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:148525892C>T	ENST00000460911.1	-	6	653	c.565G>A	c.(565-567)Gat>Aat	p.D189N	EZH2_ENST00000483967.1_Missense_Mutation_p.D180N|EZH2_ENST00000476773.1_Missense_Mutation_p.D180N|EZH2_ENST00000320356.2_Missense_Mutation_p.D189N|EZH2_ENST00000541220.1_Missense_Mutation_p.D180N|EZH2_ENST00000350995.2_Missense_Mutation_p.D150N|EZH2_ENST00000478654.1_Missense_Mutation_p.D180N|EZH2_ENST00000536783.1_Missense_Mutation_p.D80N			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	189	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCGTCTCcatcatcatcatcg	0.393			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(565-567)Gat>Aat		enhancer of zeste homolog 2 (Drosophila)							194.0	161.0	172.0					7																	148525892		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148525892C>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.565G>A	7.37:g.148525892C>T	ENSP00000419711:p.Asp189Asn					EZH2_ENST00000541220.1_Missense_Mutation_p.D180N|EZH2_ENST00000483967.1_Missense_Mutation_p.D180N|EZH2_ENST00000478654.1_Missense_Mutation_p.D180N|EZH2_ENST00000476773.1_Missense_Mutation_p.D180N|EZH2_ENST00000350995.2_Missense_Mutation_p.D150N|EZH2_ENST00000460911.1_Missense_Mutation_p.D189N|EZH2_ENST00000536783.1_Missense_Mutation_p.D80N	p.D189N	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		6	686	-	Melanoma(164;0.15)		189			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.565G>A	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145913	0.57044	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.93811	-3.24;-3.29;-3.29;-3.28;-3.24;-3.24;-3.28;0.94	5.69	5.69	0.88448	SANT domain, DNA binding (1);	0.202341	0.44483	D	0.000449	D	0.86083	0.5848	N	0.08118	0	0.45452	D	0.998423	B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.0;0.001;0.003	T	0.80650	-0.1288	10	0.16896	T	0.51	.	19.4235	0.94732	0.0:1.0:0.0:0.0	.	189;180;180;189;150;189	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	N	180;189;189;150;180;180;180;80	ENSP00000417062:D180N;ENSP00000320147:D189N;ENSP00000419711:D189N;ENSP00000223193:D150N;ENSP00000443219:D180N;ENSP00000419050:D180N;ENSP00000419856:D180N;ENSP00000439305:D80N	ENSP00000320147:D189N	D	-	1	0	EZH2	148156825	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	5.824000	0.69279	2.682000	0.91365	0.585000	0.79938	GAT		0.393	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		6	65	0	0	0	1	0	6	65				
ZFYVE1	53349	broad.mit.edu	37	14	73491066	73491066	+	Missense_Mutation	SNP	G	G	A	rs368087773		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:73491066G>A	ENST00000556143.1	-	2	871	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R51W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R51W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	51					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CGCTCCTGCCGATGGAGCTCC	0.552																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(151-153)Cgg>Tgg		zinc finger, FYVE domain containing 1							93.0	91.0	91.0					14																	73491066		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491066G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.151C>T	14.37:g.73491066G>A	ENSP00000450742:p.Arg51Trp					ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R51W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R51W	p.R51W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	871	-		all_lung(585;1.33e-09)	51					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.151C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384134	0.42308	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.66995	-0.24;-0.18;-0.18	5.13	3.2	0.36748	.	0.216003	0.40302	N	0.001137	T	0.53222	0.1783	N	0.19112	0.55	0.80722	D	1	D;P	0.60160	0.987;0.946	B;B	0.43783	0.431;0.249	T	0.62539	-0.6833	10	0.87932	D	0	-20.7016	13.7616	0.62971	0.0:0.0:0.5106:0.4894	.	51;51	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	W	51	ENSP00000452442:R51W;ENSP00000326921:R51W;ENSP00000450742:R51W	ENSP00000326921:R51W	R	-	1	2	ZFYVE1	72560819	0.691000	0.27709	0.998000	0.56505	0.161000	0.22273	1.318000	0.33643	1.389000	0.46526	0.585000	0.79938	CGG		0.552	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		4	132	0	0	0	1	0	4	132				
XIRP1	165904	broad.mit.edu	37	3	39230543	39230543	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:39230543C>T	ENST00000340369.3	-	2	622	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E132K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	132					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGGAGCCTTCCTCAAACTTG	0.602																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(394-396)Gaa>Aaa		xin actin-binding repeat containing 1							70.0	71.0	71.0					3																	39230543		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230543C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.394G>A	3.37:g.39230543C>T	ENSP00000343140:p.Glu132Lys					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E132K	p.E132K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	622	-			132					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.394G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874554	0.51695	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05382	3.45;3.81	4.93	4.93	0.64822	.	0.746744	0.13145	N	0.410367	T	0.12732	0.0309	L	0.34521	1.04	0.80722	D	1	D;P	0.55172	0.97;0.898	P;P	0.54346	0.749;0.525	T	0.10154	-1.0642	10	0.41790	T	0.15	.	16.048	0.80734	0.0:1.0:0.0:0.0	.	132;132	Q702N8;Q702N8-2	XIRP1_HUMAN;.	K	132	ENSP00000379550:E132K;ENSP00000343140:E132K	ENSP00000343140:E132K	E	-	1	0	XIRP1	39205547	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	2.742000	0.47434	2.465000	0.83290	0.655000	0.94253	GAA		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	110	0	0	0	1	0	5	110				
CTIF	9811	broad.mit.edu	37	18	46385781	46385781	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:46385781G>A	ENST00000256413.3	+	12	1943	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	CTIF_ENST00000382998.4_Missense_Mutation_p.A552T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	550	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCTGGCCAGCGCACGGGACAA	0.622																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1648-1650)Gca>Aca		CBP80/20-dependent translation initiation factor							81.0	78.0	79.0					18																	46385781		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46385781G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1648G>A	18.37:g.46385781G>A	ENSP00000256413:p.Ala550Thr					CTIF_ENST00000382998.4_Missense_Mutation_p.A552T	p.A550T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			12	1943	+			550			MIF4G.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1648G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072870	0.93950	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.22336	1.96;1.96	5.07	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.061369	0.64402	D	0.000004	T	0.30230	0.0758	L	0.36672	1.1	0.58432	D	0.999997	D;D	0.63880	0.981;0.993	P;P	0.53760	0.615;0.734	T	0.01561	-1.1324	10	0.45353	T	0.12	-20.6086	18.0457	0.89331	0.0:0.0:1.0:0.0	.	552;550	O43310-2;O43310	.;CTIF_HUMAN	T	550;552;502	ENSP00000256413:A550T;ENSP00000372459:A552T	ENSP00000256413:A550T	A	+	1	0	CTIF	44639779	1.000000	0.71417	0.979000	0.43373	0.934000	0.57294	9.832000	0.99423	2.382000	0.81193	0.561000	0.74099	GCA		0.622	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		42	109	0	0	0	1	0	42	109				
SGSH	6448	broad.mit.edu	37	17	78184371	78184371	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:78184371C>T	ENST00000326317.6	-	8	1475	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	SGSH_ENST00000534910.1_Missense_Mutation_p.M260I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	463					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTCCCGAAGCATCTCCAGAA	0.687																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1387-1389)atG>atA		N-sulfoglucosamine sulfohydrolase							29.0	31.0	30.0					17																	78184371		2201	4300	6501	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184371C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1389G>A	17.37:g.78184371C>T	ENSP00000314606:p.Met463Ile					SGSH_ENST00000534910.1_Missense_Mutation_p.M260I	p.M463I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1475	-	all_neural(118;0.0952)		463					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.1389G>A	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	C	7.021	0.558796	0.13436	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96232	-3.95;-3.95	4.89	3.88	0.44766	Alkaline-phosphatase-like, core domain (1);	1.247070	0.05296	N	0.521960	D	0.93785	0.8013	L	0.36672	1.1	0.22389	N	0.999142	B	0.06786	0.001	B	0.04013	0.001	D	0.84873	0.0826	10	0.54805	T	0.06	-0.687	9.7092	0.40233	0.1595:0.6865:0.154:0.0	.	463	P51688	SPHM_HUMAN	I	463;260	ENSP00000314606:M463I;ENSP00000437778:M260I	ENSP00000314606:M463I	M	-	3	0	SGSH	75798966	0.645000	0.27286	0.089000	0.20774	0.053000	0.15095	1.023000	0.30065	0.981000	0.38548	0.555000	0.69702	ATG		0.687	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		7	26	0	0	0	1	0	7	26				
RTTN	25914	broad.mit.edu	37	18	67860551	67860551	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:67860551C>T	ENST00000255674.6	-	8	1266	c.980G>A	c.(979-981)gGc>gAc	p.G327D	RTTN_ENST00000454359.1_Missense_Mutation_p.G327D|RTTN_ENST00000437017.1_Missense_Mutation_p.G327D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	327					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCAGTCCTGGCCATCTCCTCT	0.552																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(979-981)gGc>gAc		rotatin							54.0	55.0	55.0					18																	67860551		1924	4136	6060	SO:0001583	missense	25914						binding	g.chr18:67860551C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.980G>A	18.37:g.67860551C>T	ENSP00000255674:p.Gly327Asp					RTTN_ENST00000437017.1_Missense_Mutation_p.G327D|RTTN_ENST00000454359.1_Missense_Mutation_p.G327D	p.G327D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			8	1266	-		Esophageal squamous(42;0.129)	327					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.980G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170156	0.57584	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.72505	-0.08;-0.03;-0.66	5.34	5.34	0.76211	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.84170	0.5413	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85743	0.1338	10	0.87932	D	0	.	19.0662	0.93113	0.0:1.0:0.0:0.0	.	327;327	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	D	327	ENSP00000255674:G327D;ENSP00000402352:G327D;ENSP00000399520:G327D	ENSP00000255674:G327D	G	-	2	0	RTTN	66011531	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.575000	0.82447	2.501000	0.84356	0.591000	0.81541	GGC		0.552	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		14	44	0	0	0	1	0	14	44				
LIPE	3991	broad.mit.edu	37	19	42911576	42911576	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:42911576C>T	ENST00000244289.4	-	6	2163	c.1887G>A	c.(1885-1887)cgG>cgA	p.R629R	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	629					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GCTCCAGGCTCCGTTGGCCGT	0.667																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1885-1887)cgG>cgA		lipase, hormone-sensitive							24.0	27.0	26.0					19																	42911576		2203	4297	6500	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42911576C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1887G>A	19.37:g.42911576C>T						LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR	p.R629R	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			6	2163	-		Prostate(69;0.00682)	629					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1887G>A	CCDS12607.1																																																																																				0.667	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		15	45	0	0	0	1	0	15	45				
ATRNL1	26033	broad.mit.edu	37	10	117704258	117704258	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:117704258C>T	ENST00000355044.3	+	29	4234	c.4108C>T	c.(4108-4110)Cac>Tac	p.H1370Y	ATRNL1_ENST00000423111.2_Missense_Mutation_p.H421Y|ATRNL1_ENST00000303745.7_Missense_Mutation_p.H163Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1370					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAATCGAAAACACCTTTCAAC	0.418																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4108-4110)Cac>Tac		attractin-like 1							97.0	102.0	100.0					10																	117704258		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117704258C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.4108C>T	10.37:g.117704258C>T	ENSP00000347152:p.His1370Tyr					ATRNL1_ENST00000303745.7_Missense_Mutation_p.H163Y|ATRNL1_ENST00000423111.2_Missense_Mutation_p.H421Y	p.H1370Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	29	4234	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1370					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.4108C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605972	0.46527	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T	0.22336	2.58;1.96	5.78	5.78	0.91487	.	0.214107	0.48767	D	0.000178	T	0.39436	0.1078	L	0.44542	1.39	0.46028	D	0.998825	B;P	0.45126	0.038;0.851	B;P	0.58391	0.02;0.838	T	0.01413	-1.1361	10	0.56958	D	0.05	-6.2437	20.3754	0.98918	0.0:1.0:0.0:0.0	.	421;1370	B4DH41;Q5VV63	.;ATRN1_HUMAN	Y	1370;421;163	ENSP00000347152:H1370Y;ENSP00000409624:H421Y	ENSP00000307660:H163Y	H	+	1	0	ATRNL1	117694248	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.989000	0.70587	2.894000	0.99253	0.591000	0.81541	CAC		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		26	85	0	0	0	1	0	26	85				
GRIK2	2898	broad.mit.edu	37	6	102074293	102074293	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:102074293G>A	ENST00000421544.1	+	3	812	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	GRIK2_ENST00000358361.3_Missense_Mutation_p.G108R|GRIK2_ENST00000369134.4_Missense_Mutation_p.G59R|GRIK2_ENST00000369138.1_Missense_Mutation_p.G108R|GRIK2_ENST00000369137.3_Missense_Mutation_p.G108R|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108R|GRIK2_ENST00000413795.1_Missense_Mutation_p.G108R	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	108					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCCATCTTCGGGCCTTCACA	0.537																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(322-324)Ggg>Agg		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						173.0	176.0	175.0					6																	102074293		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074293G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.322G>A	6.37:g.102074293G>A	ENSP00000397026:p.Gly108Arg					GRIK2_ENST00000369137.3_Missense_Mutation_p.G108R|GRIK2_ENST00000421544.1_Missense_Mutation_p.G108R|GRIK2_ENST00000413795.1_Missense_Mutation_p.G108R|GRIK2_ENST00000369134.4_Missense_Mutation_p.G59R|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108R|GRIK2_ENST00000358361.3_Missense_Mutation_p.G108R	p.G108R	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	812	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	108					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.322G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123834	0.94429	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.102760	0.64402	D	0.000002	D	0.90345	0.6979	M	0.91872	3.25	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91546	0.5253	10	0.87932	D	0	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	108;108;108	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	R	108;108;108;108;108;108;108;59;70	ENSP00000397026:G108R;ENSP00000405596:G108R;ENSP00000358134:G108R;ENSP00000351128:G108R;ENSP00000358133:G108R;ENSP00000313276:G108R;ENSP00000358130:G59R	ENSP00000313276:G108R	G	+	1	0	GRIK2	102180986	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.476000	0.97823	2.718000	0.92993	0.655000	0.94253	GGG		0.537	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			5	305	0	0	0	1	0	5	305				
ELK4	2005	broad.mit.edu	37	1	205589312	205589312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:205589312G>A	ENST00000357992.4	-	3	1201	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	ELK4_ENST00000289703.4_Nonsense_Mutation_p.Q288*|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	288					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCCATTGGCTGAGAAGCCACT	0.453			T	SLC45A3	prostate																																	ENST00000357992.4				Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(862-864)Cag>Tag		ELK4, ETS-domain protein (SRF accessory protein 1)							140.0	148.0	145.0					1																	205589312		2203	4300	6503	SO:0001587	stop_gained	2005							g.chr1:205589312G>A	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.862C>T	1.37:g.205589312G>A	ENSP00000350681:p.Gln288*					ELK4_ENST00000289703.4_Nonsense_Mutation_p.Q288*	p.Q288*	NM_001973.3	NP_001964.2			BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1201	-	Breast(84;0.07)							P28323|Q6GSJ2	Nonsense_Mutation	SNP	ENST00000357992.4	37	c.862C>T	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	39	7.697173	0.98438	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	.	.	.	5.44	5.44	0.79542	.	0.263785	0.44688	D	0.000424	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.2143	0.89880	0.0:0.0:1.0:0.0	.	.	.	.	X	378;288;288	.	ENSP00000289703:Q288X	Q	-	1	0	ELK4	203855935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.442000	0.73443	2.726000	0.93360	0.655000	0.94253	CAG		0.453	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		5	222	0	0	0	1	0	5	222				
TMEM161B	153396	broad.mit.edu	37	5	87516424	87516424	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:87516424C>G	ENST00000296595.6	-	5	526	c.402G>C	c.(400-402)atG>atC	p.M134I	TMEM161B_ENST00000514135.1_Missense_Mutation_p.M134I|TMEM161B_ENST00000512429.1_Missense_Mutation_p.M123I|TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000509387.1_Missense_Mutation_p.M7I|TMEM161B_ENST00000506536.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	134						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGCTGATATTCATTTCCTGTG	0.358																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(400-402)atG>atC		transmembrane protein 161B							71.0	79.0	76.0					5																	87516424		2203	4300	6503	SO:0001583	missense	153396					integral to membrane		g.chr5:87516424C>G	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.402G>C	5.37:g.87516424C>G	ENSP00000296595:p.Met134Ile					TMEM161B_ENST00000514135.1_Missense_Mutation_p.M134I|TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000509387.1_Missense_Mutation_p.M7I|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.M123I	p.M134I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	5	526	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	134					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.402G>C	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983263	0.35036	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	N	0.10874	0.06	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	T	0.46857	-0.9161	9	0.02654	T	1	-22.1537	19.9122	0.97029	0.0:1.0:0.0:0.0	.	134	Q8NDZ6	T161B_HUMAN	I	134;134;123;134;7	.	ENSP00000296595:M134I	M	-	3	0	TMEM161B	87552180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.693000	0.68264	2.712000	0.92718	0.585000	0.79938	ATG		0.358	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		15	44	0	0	0	1	0	15	44				
PLXNB2	23654	broad.mit.edu	37	22	50722091	50722091	+	Missense_Mutation	SNP	C	C	G	rs376030784		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:50722091C>G	ENST00000449103.1	-	15	2650	c.2510G>C	c.(2509-2511)aGg>aCg	p.R837T	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R837T			O15031	PLXB2_HUMAN	plexin B2	837	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGAGATCCTCTGGATGTC	0.647																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2509-2511)aGg>aCg		plexin B2							31.0	37.0	35.0					22																	50722091		1971	4134	6105	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722091C>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2510G>C	22.37:g.50722091C>G	ENSP00000409171:p.Arg837Thr					PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R837T	p.R837T			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	15	2650	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	837			IPT/TIG 1.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.2510G>C	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	0.761	-0.769417	0.02974	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.76968	-1.06;-1.06	4.22	2.09	0.27110	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.708730	0.13098	N	0.413982	T	0.61527	0.2354	N	0.21194	0.64	0.23798	N	0.996817	B	0.13145	0.007	B	0.21151	0.033	T	0.45498	-0.9257	10	0.21540	T	0.41	.	7.5676	0.27887	0.0:0.781:0.0:0.219	.	837	O15031	PLXB2_HUMAN	T	837	ENSP00000409171:R837T;ENSP00000352288:R837T	ENSP00000352288:R837T	R	-	2	0	PLXNB2	49064218	0.004000	0.15560	0.157000	0.22605	0.102000	0.19082	0.004000	0.13106	0.408000	0.25621	0.485000	0.47835	AGG		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		18	46	0	0	0	1	0	18	46				
TMEM132A	54972	broad.mit.edu	37	11	60695323	60695323	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:60695323C>G	ENST00000453848.2	+	3	684	c.526C>G	c.(526-528)Cgc>Ggc	p.R176G	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Missense_Mutation_p.R176G			Q24JP5	T132A_HUMAN	transmembrane protein 132A	176						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAAGCCTGCCGCTTCCAGGT	0.672																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(526-528)Cgc>Ggc		transmembrane protein 132A							15.0	18.0	17.0					11																	60695323		2182	4254	6436	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60695323C>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.526C>G	11.37:g.60695323C>G	ENSP00000405823:p.Arg176Gly					TMEM132A_ENST00000453848.2_Missense_Mutation_p.R176G	p.R176G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			3	679	+			176					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.526C>G	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722291	0.48728	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.07114	3.22;3.23	4.97	4.97	0.65823	.	0.141138	0.42294	D	0.000725	T	0.20536	0.0494	M	0.72479	2.2	0.28943	N	0.890877	D;P;P	0.58620	0.983;0.841;0.841	P;P;P	0.53954	0.738;0.456;0.456	T	0.02457	-1.1156	10	0.87932	D	0	-13.1655	13.3549	0.60623	0.0:0.8419:0.1581:0.0	.	165;176;176	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	G	176	ENSP00000405823:R176G;ENSP00000005286:R176G	ENSP00000005286:R176G	R	+	1	0	TMEM132A	60451899	0.992000	0.36948	1.000000	0.80357	0.454000	0.32378	3.539000	0.53604	2.478000	0.83669	0.563000	0.77884	CGC		0.672	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		14	31	0	0	0	1	0	14	31				
BDKRB1	623	broad.mit.edu	37	14	96730784	96730784	+	Silent	SNP	C	C	T	rs150459277		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:96730784C>T	ENST00000216629.6	+	3	1371	c.765C>T	c.(763-765)ctC>ctT	p.L255L	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	255					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCTCACGCTCGTGGTTGCCT	0.597																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(763-765)ctC>ctT		bradykinin receptor B1		C		0,4406		0,0,2203	95.0	85.0	89.0		765	-7.2	0.0	14	dbSNP_134	89	1,8599		0,1,4299	no	coding-synonymous	BDKRB1	NM_000710.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		255/354	96730784	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730784C>T	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.765C>T	14.37:g.96730784C>T						BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	p.L255L	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1371	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	255					A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	ENST00000216629.6	37	c.765C>T	CCDS9943.1																																																																																				0.597	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			23	49	0	0	0	1	0	23	49				
SUPT6H	6830	broad.mit.edu	37	17	27010070	27010070	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:27010070G>C	ENST00000314616.6	+	15	2121	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R613T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	613	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTCCAAGAGAGAGCCAAGTTA	0.532																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1837-1839)aGa>aCa		suppressor of Ty 6 homolog (S. cerevisiae)							36.0	34.0	35.0					17																	27010070		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010070G>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1838G>C	17.37:g.27010070G>C	ENSP00000319104:p.Arg613Thr					SUPT6H_ENST00000347486.4_Missense_Mutation_p.R613T	p.R613T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			15	2121	+	Lung NSC(42;0.00431)		613					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1838G>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127599	0.94473	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.30714	1.52;1.52	5.95	5.95	0.96441	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.76727	2.345	0.80722	D	1	D	0.63046	0.992	P	0.59487	0.858	T	0.46596	-0.9180	10	0.38643	T	0.18	-15.1809	20.3854	0.98941	0.0:0.0:1.0:0.0	.	613	Q7KZ85	SPT6H_HUMAN	T	613	ENSP00000319104:R613T;ENSP00000338143:R613T	ENSP00000319104:R613T	R	+	2	0	SUPT6H	24034197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.359000	0.97115	2.825000	0.97269	0.655000	0.94253	AGA		0.532	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		14	30	0	0	0	1	0	14	30				
RIN2	54453	broad.mit.edu	37	20	19955493	19955493	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:19955493T>C	ENST00000255006.6	+	8	1120	c.971T>C	c.(970-972)cTt>cCt	p.L324P	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	275					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTAATCCCCTTTTCTTGAAA	0.567																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(970-972)cTt>cCt		Ras and Rab interactor 2							61.0	66.0	64.0					20																	19955493		1910	4113	6023	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955493T>C	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.971T>C	20.37:g.19955493T>C	ENSP00000255006:p.Leu324Pro					RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	p.L324P	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1120	+			275					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.971T>C	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984367	0.74474	.	.	ENSG00000132669	ENST00000255006	T	0.29655	1.56	5.44	5.44	0.79542	.	0.332080	0.32488	N	0.006031	T	0.57021	0.2025	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59936	-0.7360	9	.	.	.	-0.7827	15.1635	0.72803	0.0:0.0:0.0:1.0	.	275	Q8WYP3	RIN2_HUMAN	P	324	ENSP00000255006:L324P	.	L	+	2	0	RIN2	19903493	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.841000	0.86834	2.060000	0.61445	0.533000	0.62120	CTT		0.567	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			16	39	0	0	0	1	0	16	39				
SNX29	92017	broad.mit.edu	37	16	12145726	12145726	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:12145726G>C	ENST00000566228.1	+	8	840	c.771G>C	c.(769-771)cgG>cgC	p.R257R	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	257						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AAAAGGAGCGGAAGAAGAAAA	0.408																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(769-771)cgG>cgC		sorting nexin 29							54.0	59.0	57.0					16																	12145726		2189	4300	6489	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12145726G>C	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.771G>C	16.37:g.12145726G>C							p.R257R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			8	840	+			349					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.771G>C	CCDS10553.2																																																																																				0.408	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			22	59	0	0	0	1	0	22	59				
ZNF347	84671	broad.mit.edu	37	19	53643891	53643891	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:53643891G>A	ENST00000334197.7	-	5	2258	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.I731I|ZNF347_ENST00000452676.2_Silent_p.I731I	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	730					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)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTCCAGTATGGATTGCCTGAT	0.438																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2191-2193)atC>atT		zinc finger protein 347							166.0	154.0	158.0					19																	53643891		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643891G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2190C>T	19.37:g.53643891G>A						ZNF347_ENST00000601469.2_Silent_p.I731I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.I730I	p.I731I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2619	-			730					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.2193C>T	CCDS33097.1																																																																																				0.438	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		47	145	0	0	0	1	0	47	145				
SRRM4	84530	broad.mit.edu	37	12	119563241	119563241	+	Missense_Mutation	SNP	C	C	T	rs377276368		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:119563241C>T	ENST00000267260.4	+	7	959	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	191	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGCCCCTCGCGGTCCCAGAG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15222	0.001		0.0	False		,,,				2504	0.0					ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(571-573)Cgg>Tgg		serine/arginine repetitive matrix 4		C	TRP/ARG	1,4047		0,1,2023	40.0	50.0	46.0		571	-0.1	0.0	12		46	0,8352		0,0,4176	no	missense	SRRM4	NM_194286.3	101	0,1,6199	TT,TC,CC		0.0,0.0247,0.0081	probably-damaging	191/612	119563241	1,12399	2024	4176	6200	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119563241C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.571C>T	12.37:g.119563241C>T	ENSP00000267260:p.Arg191Trp					SRRM4_ENST00000537597.1_3'UTR	p.R191W	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			7	959	+			191			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.571C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446302	0.43429	2.47E-4	0.0	ENSG00000139767	ENST00000267260	T	0.27557	1.66	5.66	-0.0825	0.13697	.	0.000000	0.51477	D	0.000085	T	0.45577	0.1349	L	0.50333	1.59	0.22911	N	0.998579	D	0.89917	1.0	D	0.68483	0.958	T	0.47861	-0.9084	10	0.62326	D	0.03	-19.4366	14.6991	0.69145	0.7207:0.2793:0.0:0.0	.	191	A7MD48	SRRM4_HUMAN	W	191	ENSP00000267260:R191W	ENSP00000267260:R191W	R	+	1	2	SRRM4	118047624	0.008000	0.16893	0.029000	0.17559	0.839000	0.47603	-0.149000	0.10204	-0.359000	0.08150	-0.152000	0.13540	CGG		0.637	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		4	69	0	0	0	1	0	4	69				
CMIP	80790	broad.mit.edu	37	16	81740626	81740626	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:81740626G>A	ENST00000537098.3	+	20	2277	c.2205G>A	c.(2203-2205)aaG>aaA	p.K735K	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.K582K|CMIP_ENST00000539778.2_Silent_p.K641K	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	735						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CAGCCATGAAGAGTCTCTGCA	0.522																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(2203-2205)aaG>aaA		c-Maf inducing protein							215.0	224.0	222.0					16																	81740626		2015	4189	6204	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81740626G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2205G>A	16.37:g.81740626G>A						CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.K641K|CMIP_ENST00000398040.4_Silent_p.K582K	p.K735K	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			20	2277	+			701					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.2205G>A	CCDS54044.1																																																																																				0.522	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		60	325	0	0	0	1	0	60	325				
ADAMTS19	171019	broad.mit.edu	37	5	128983509	128983509	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:128983509G>T	ENST00000274487.4	+	12	2051	c.1906G>T	c.(1906-1908)Gcc>Tcc	p.A636S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	636	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAACATCTGGCCGGAGAGTG	0.507																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1906-1908)Gcc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 19							143.0	142.0	142.0					5																	128983509		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983509G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1906G>T	5.37:g.128983509G>T	ENSP00000274487:p.Ala636Ser					CTC-575N7.1_ENST00000503616.1_RNA	p.A636S	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	2051	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	636			TSP type-1 1.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1906G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851712	0.32699	.	.	ENSG00000145808	ENST00000274487	T	0.60672	0.17	4.52	3.65	0.41850	.	0.157787	0.40728	N	0.001027	T	0.30039	0.0752	N	0.03999	-0.3	0.30650	N	0.755566	B	0.13145	0.007	B	0.15052	0.012	T	0.20140	-1.0284	9	.	.	.	.	8.7151	0.34405	0.0778:0.0:0.7723:0.1498	.	636	Q8TE59	ATS19_HUMAN	S	636	ENSP00000274487:A636S	.	A	+	1	0	ADAMTS19	129011408	0.999000	0.42202	0.993000	0.49108	0.971000	0.66376	2.280000	0.43443	1.500000	0.48636	0.650000	0.86243	GCC		0.507	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		43	141	1	0	1.48734e-19	1	1.59157e-19	43	141				
BRWD3	254065	broad.mit.edu	37	X	79975057	79975057	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:79975057C>G	ENST00000373275.4	-	18	2191	c.1975G>C	c.(1975-1977)Gac>Cac	p.D659H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	659					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTCTCAGGTCTTGTTCTCTC	0.398																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1975-1977)Gac>Cac		bromodomain and WD repeat domain containing 3							180.0	149.0	160.0					X																	79975057		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79975057C>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1975G>C	X.37:g.79975057C>G	ENSP00000362372:p.Asp659His					BRWD3_ENST00000473691.1_5'UTR	p.D659H	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			18	2191	-			659					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1975G>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994018	0.74703	.	.	ENSG00000165288	ENST00000373275	T	0.60548	0.18	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	M	0.84846	2.72	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.81497	-0.0906	9	.	.	.	-18.737	17.6771	0.88233	0.0:1.0:0.0:0.0	.	659	Q6RI45	BRWD3_HUMAN	H	659	ENSP00000362372:D659H	.	D	-	1	0	BRWD3	79861713	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.009000	0.76347	2.361000	0.80049	0.600000	0.82982	GAC		0.398	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		34	22	0	0	0	1	0	34	22				
CPXM1	56265	broad.mit.edu	37	20	2776783	2776783	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:2776783C>T	ENST00000380605.2	-	10	1331	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	423					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGCGGCCCTCGGCCCAGCCC	0.592																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1267-1269)Gag>Aag		carboxypeptidase X (M14 family), member 1							66.0	68.0	68.0					20																	2776783		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776783C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1267G>A	20.37:g.2776783C>T	ENSP00000369979:p.Glu423Lys						p.E423K	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			10	1331	-			423					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1267G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	8.282	0.815796	0.16607	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.07688	3.17	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (2);	0.612520	0.18001	N	0.154900	T	0.05914	0.0154	N	0.16368	0.405	0.18873	N	0.999989	P;D	0.58620	0.888;0.983	B;B	0.44108	0.441;0.44	T	0.34750	-0.9816	10	0.10377	T	0.69	-33.3758	11.6208	0.51117	0.1771:0.8228:0.0:0.0	.	423;423	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	423;119	ENSP00000369979:E423K	ENSP00000369979:E423K	E	-	1	0	CPXM1	2724783	0.000000	0.05858	1.000000	0.80357	0.592000	0.36648	-1.234000	0.02931	2.825000	0.97269	0.655000	0.94253	GAG		0.592	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		6	107	0	0	0	1	0	6	107				
NCOA6	23054	broad.mit.edu	37	20	33330812	33330812	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:33330812T>A	ENST00000374796.2	-	12	5818	c.3248A>T	c.(3247-3249)cAa>cTa	p.Q1083L	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q1083L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1083	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGCAGGTCCTTGCAGACTGAC	0.527																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3247-3249)cAa>cTa		nuclear receptor coactivator 6							98.0	99.0	99.0					20																	33330812		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330812T>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3248A>T	20.37:g.33330812T>A	ENSP00000363929:p.Gln1083Leu					NCOA6_ENST00000359003.2_Missense_Mutation_p.Q1083L	p.Q1083L			Q14686	NCOA6_HUMAN			12	5818	-			1083			NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.3248A>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761146	0.69763	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.27256	1.68;1.68	5.93	5.93	0.95920	.	0.082622	0.52532	D	0.000074	T	0.35711	0.0941	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	P	0.57911	0.829	T	0.07385	-1.0775	10	0.56958	D	0.05	-4.5559	16.3756	0.83387	0.0:0.0:0.0:1.0	.	1083	Q14686	NCOA6_HUMAN	L	1083	ENSP00000363929:Q1083L;ENSP00000351894:Q1083L	ENSP00000351894:Q1083L	Q	-	2	0	NCOA6	32794473	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.939000	0.70179	2.270000	0.75569	0.460000	0.39030	CAA		0.527	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		45	109	0	0	0	1	0	45	109				
GLUD2	2747	broad.mit.edu	37	X	120182405	120182405	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:120182405C>T	ENST00000328078.1	+	1	944	c.867C>T	c.(865-867)taC>taT	p.Y289Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	289					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AAGCTTCTTACATGAGCATTT	0.433																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(865-867)taC>taT		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						153.0	131.0	138.0					X																	120182405		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182405C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.867C>T	X.37:g.120182405C>T							p.Y289Y	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	944	+			289					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.867C>T	CCDS14603.1																																																																																				0.433	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		44	29	0	0	0	1	0	44	29				
CCDC141	285025	broad.mit.edu	37	2	179732807	179732807	+	Silent	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:179732807G>T	ENST00000420890.2	-	16	2637	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L	CCDC141_ENST00000295723.5_Silent_p.L265L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	840										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTCTGTGGAGATGGTCTA	0.512																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2518-2520)ctC>ctA		coiled-coil domain containing 141							138.0	118.0	125.0					2																	179732807		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179732807G>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2520C>A	2.37:g.179732807G>T						CCDC141_ENST00000295723.5_Silent_p.L265L	p.L840L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		16	2637	-			265			Ig-like.		H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.2520C>A																																																																																					0.512	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		19	70	1	0	3.32936e-07	1	3.45106e-07	19	70				
GATM	2628	broad.mit.edu	37	15	45668818	45668818	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:45668818G>A	ENST00000396659.3	-	2	608	c.269C>T	c.(268-270)cCg>cTg	p.P90L	GATM_ENST00000558336.1_Missense_Mutation_p.P90L|GATM_ENST00000458245.5_5'Flank	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	90					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GATGGTGAACGGTGGAACACA	0.537																																						ENST00000396659.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(268-270)cCg>cTg		glycine amidinotransferase (L-arginine:glycine amidinotransferase)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						144.0	135.0	138.0					15																	45668818		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45668818G>A	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.269C>T	15.37:g.45668818G>A	ENSP00000379895:p.Pro90Leu					GATM_ENST00000558336.1_Missense_Mutation_p.P90L	p.P90L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	2	608	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	90					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.269C>T	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813103	0.50527	.	.	ENSG00000171766	ENST00000396659	T	0.52983	0.64	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.80183	2.485	0.80722	D	1	D;P	0.59357	0.985;0.946	B;B	0.42625	0.393;0.156	T	0.63395	-0.6647	10	0.54805	T	0.06	-7.7427	17.5723	0.87937	0.0:0.0:1.0:0.0	.	90;90	P50440-3;P50440	.;GATM_HUMAN	L	90	ENSP00000379895:P90L	ENSP00000379895:P90L	P	-	2	0	GATM	43456110	1.000000	0.71417	0.915000	0.36163	0.228000	0.25075	9.385000	0.97223	2.736000	0.93811	0.655000	0.94253	CCG		0.537	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		40	114	0	0	0	1	0	40	114				
TMUB2	79089	broad.mit.edu	37	17	42266824	42266824	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42266824C>T	ENST00000587989.1	+	3	623	c.470C>T	c.(469-471)gCc>gTc	p.A157V	TMUB2_ENST00000589785.1_Missense_Mutation_p.A137V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A137V|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.A137V|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000319511.6_Missense_Mutation_p.A137V|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000538716.2_Missense_Mutation_p.A157V|TMUB2_ENST00000446571.3_Missense_Mutation_p.A100V|TMUB2_ENST00000587172.1_Intron|ASB16-AS1_ENST00000592897.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	157						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGTCCAGAGGCCCCCCTGAGA	0.607																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(409-411)gCc>gTc		transmembrane and ubiquitin-like domain containing 2							50.0	52.0	51.0					17																	42266824		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266824C>T		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.470C>T	17.37:g.42266824C>T	ENSP00000466971:p.Ala157Val					TMUB2_ENST00000538716.2_Missense_Mutation_p.A157V|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.A157V|TMUB2_ENST00000446571.3_Missense_Mutation_p.A100V|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.A137V|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.A137V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A137V	p.A137V	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	1060	+		Breast(137;0.00765)|Prostate(33;0.0181)	157					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.410C>T	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259150	0.23051	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.47177	0.89;0.87;0.85;0.87	5.53	2.45	0.29901	.	0.431846	0.25575	N	0.029728	T	0.34395	0.0896	L	0.44542	1.39	0.09310	N	1	B;B;B	0.23735	0.0;0.001;0.09	B;B;B	0.18561	0.001;0.004;0.022	T	0.17289	-1.0374	10	0.29301	T	0.29	-7.5111	7.4566	0.27270	0.0:0.5621:0.2845:0.1534	.	100;137;157	E7ESS3;Q71RG4-3;Q71RG4	.;.;TMUB2_HUMAN	V	100;137;157;137	ENSP00000413127:A100V;ENSP00000350672:A137V;ENSP00000444565:A157V;ENSP00000313214:A137V	ENSP00000313214:A137V	A	+	2	0	TMUB2	39622350	0.000000	0.05858	0.058000	0.19502	0.978000	0.69477	0.175000	0.16762	0.295000	0.22570	0.561000	0.74099	GCC		0.607	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		24	79	0	0	0	1	0	24	79				
ZNF766	90321	broad.mit.edu	37	19	52772874	52772874	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:52772874A>C	ENST00000439461.1	+	1	51	c.8A>C	c.(7-9)cAa>cCa	p.Q3P	ZNF766_ENST00000599581.1_Missense_Mutation_p.Q3P	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	3					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(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GATATGGCGCAACTGCGGCGC	0.657																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(7-9)cAa>cCa		zinc finger protein 766							79.0	89.0	86.0					19																	52772874		1924	4121	6045	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52772874A>C	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.8A>C	19.37:g.52772874A>C	ENSP00000409652:p.Gln3Pro					ZNF766_ENST00000599581.1_Missense_Mutation_p.Q3P	p.Q3P	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	1	51	+			3					B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.8A>C	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	A	4.247	0.044918	0.08196	.	.	ENSG00000196214	ENST00000439461	T	0.06218	3.33	1.77	-2.76	0.05896	Krueppel-associated box (1);	.	.	.	.	T	0.02455	0.0075	N	0.14661	0.345	0.20764	N	0.999858	P	0.35982	0.531	B	0.16289	0.015	T	0.39761	-0.9598	9	0.51188	T	0.08	.	3.9552	0.09387	0.4863:0.3003:0.2134:0.0	.	3	Q5HY98	ZN766_HUMAN	P	3	ENSP00000409652:Q3P	ENSP00000409652:Q3P	Q	+	2	0	ZNF766	57464686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.178000	0.09782	-0.638000	0.05509	-0.445000	0.05633	CAA		0.657	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		16	57	0	0	0	1	0	16	57				
IFNA4	3441	broad.mit.edu	37	9	21186980	21186980	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:21186980C>G	ENST00000421715.1	-	1	618	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	184					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTTAATCTTTTTTGCAA	0.388																																					NSCLC(154;890 1986 23660 27800 51138)	ENST00000421715.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(550-552)aGa>aCa		interferon, alpha 4							167.0	169.0	168.0					9																	21186980		2203	4300	6503	SO:0001583	missense	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21186980C>G		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.551G>C	9.37:g.21186980C>G	ENSP00000412897:p.Arg184Thr						p.R184T	NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	618	-			184					P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	c.551G>C	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	11.69	1.714100	0.30413	.	.	ENSG00000236637	ENST00000421715	T	0.03982	3.74	2.96	1.05	0.20165	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.807431	0.11337	N	0.574448	T	0.12220	0.0297	M	0.76002	2.32	0.09310	N	1	P	0.36392	0.551	P	0.48141	0.568	T	0.19321	-1.0309	10	0.87932	D	0	.	6.4055	0.21662	0.0:0.7293:0.0:0.2707	.	184	P05014	IFNA4_HUMAN	T	184	ENSP00000412897:R184T	ENSP00000412897:R184T	R	-	2	0	IFNA4	21176980	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.436000	0.06922	0.573000	0.29400	0.485000	0.47835	AGA		0.388	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		7	327	0	0	0	1	0	7	327				
RASGRF2	5924	broad.mit.edu	37	5	80408576	80408576	+	Silent	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:80408576C>G	ENST00000265080.4	+	14	2053	c.1986C>G	c.(1984-1986)ctC>ctG	p.L662L	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	662	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTGATTTCCTCAACACCTTTC	0.502																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1984-1986)ctC>ctG		Ras protein-specific guanine nucleotide-releasing factor 2							221.0	210.0	214.0					5																	80408576		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408576C>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1986C>G	5.37:g.80408576C>G							p.L662L	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	2053	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	662			N-terminal Ras-GEF.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.1986C>G	CCDS4052.1																																																																																				0.502	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		6	314	0	0	0	1	0	6	314				
TMCO4	255104	broad.mit.edu	37	1	20009578	20009578	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:20009578G>A	ENST00000294543.6	-	16	2101	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	620						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGCACAATCGGGGCAGCCCA	0.652																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1858-1860)ccC>ccT		transmembrane and coiled-coil domains 4							48.0	59.0	55.0					1																	20009578		2202	4299	6501	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20009578G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1860C>T	1.37:g.20009578G>A						TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000375127.1_Intron	p.P620P	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	2101	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	620					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.1860C>T	CCDS198.1																																																																																				0.652	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		4	162	0	0	0	1	0	4	162				
PLXDC1	57125	broad.mit.edu	37	17	37235397	37235397	+	Missense_Mutation	SNP	C	C	T	rs143709538		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:37235397C>T	ENST00000315392.4	-	10	1221	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.R297H|AC091178.1_ENST00000410562.1_RNA|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	337					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.R337H(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGCGATAGCGGTCAAAGCC	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23654	0.0		0.0	False		,,,				2504	0.0					ENST00000315392.4																			1	Substitution - Missense(1)	p.R337H(1)	large_intestine(1)	kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1009-1011)cGc>cAc		plexin domain containing 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	105.0	95.0	98.0		1010	5.4	1.0	17	dbSNP_134	98	0,8600		0,0,4300	yes	missense	PLXDC1	NM_020405.4	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	337/501	37235397	2,13004	2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37235397C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1010G>A	17.37:g.37235397C>T	ENSP00000323927:p.Arg337His					PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.R297H|CTD-2206N4.4_ENST00000583447.1_RNA	p.R337H	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			10	1221	-			337					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.1010G>A	CCDS11333.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.30	2.495114	0.44352	4.54E-4	0.0	ENSG00000161381	ENST00000315392;ENST00000444911	T;T	0.17054	2.3;2.3	5.41	5.41	0.78517	.	0.059890	0.64402	D	0.000003	T	0.37999	0.1024	M	0.82132	2.575	0.80722	D	1	D;P	0.56521	0.976;0.858	P;B	0.55455	0.776;0.303	T	0.19063	-1.0317	10	0.87932	D	0	-36.7282	14.5769	0.68255	0.0:1.0:0.0:0.0	.	297;337	B4E173;Q8IUK5	.;PXDC1_HUMAN	H	337;297	ENSP00000323927:R337H;ENSP00000409687:R297H	ENSP00000323927:R337H	R	-	2	0	PLXDC1	34488923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.447000	0.66606	2.826000	0.97356	0.561000	0.74099	CGC		0.532	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		14	67	0	0	0	1	0	14	67				
CNOT1	23019	broad.mit.edu	37	16	58589720	58589720	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:58589720G>A	ENST00000317147.5	-	20	2904	c.2572C>T	c.(2572-2574)Cat>Tat	p.H858Y	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.H858Y|CNOT1_ENST00000569240.1_Missense_Mutation_p.H853Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	858	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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 stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGTGGATGATTATATATT	0.403																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2572-2574)Cat>Tat		CCR4-NOT transcription complex, subunit 1							211.0	167.0	182.0					16																	58589720		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589720G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2572C>T	16.37:g.58589720G>A	ENSP00000320949:p.His858Tyr					CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.H853Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.H858Y	p.H858Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	20	2904	-			858					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2572C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373676	0.82573	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.47177	0.88;0.85	5.79	5.79	0.91817	.	0.043035	0.85682	D	0.000000	T	0.61689	0.2367	M	0.76838	2.35	0.80722	D	1	B;P;P	0.43542	0.435;0.612;0.81	B;B;P	0.46975	0.204;0.188;0.533	T	0.65014	-0.6271	10	0.62326	D	0.03	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	858;858;853	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Y	858;287;853;858	ENSP00000320949:H858Y;ENSP00000413113:H858Y	ENSP00000320949:H858Y	H	-	1	0	CNOT1	57147221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.732000	0.93576	0.585000	0.79938	CAT		0.403	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		21	65	0	0	0	1	0	21	65				
PHLDB2	90102	broad.mit.edu	37	3	111603716	111603716	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:111603716G>T	ENST00000431670.2	+	2	1203	c.792G>T	c.(790-792)gaG>gaT	p.E264D	PHLDB2_ENST00000412622.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E264D|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E291D|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E264D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	264						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGCCACAGAGAACCAGCTGA	0.483																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(790-792)gaG>gaT		pleckstrin homology-like domain, family B, member 2							61.0	61.0	61.0					3																	111603716		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603716G>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.792G>T	3.37:g.111603716G>T	ENSP00000405405:p.Glu264Asp					PHLDB2_ENST00000412622.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E264D|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E291D|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E264D	p.E264D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	1203	+			264					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.792G>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	8.840	0.941957	0.18281	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.32272	1.46;1.49;1.48;1.49;1.49;1.48	5.4	1.45	0.22620	.	0.206191	0.51477	N	0.000087	T	0.11537	0.0281	N	0.08118	0	0.26650	N	0.97212	B;B;B;B;B	0.16166	0.0;0.005;0.016;0.001;0.001	B;B;B;B;B	0.19148	0.002;0.009;0.024;0.002;0.003	T	0.28106	-1.0054	10	0.12103	T	0.63	.	4.9942	0.14230	0.2356:0.3494:0.415:0.0	.	264;264;264;264;291	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	D	291;291;264;264;264;264;264;264;264	ENSP00000377500:E291D;ENSP00000405405:E264D;ENSP00000405292:E264D;ENSP00000418296:E264D;ENSP00000377502:E264D;ENSP00000418319:E264D	ENSP00000352764:E291D	E	+	3	2	PHLDB2	113086406	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	0.419000	0.21247	0.316000	0.23135	0.655000	0.94253	GAG		0.483	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		16	65	1	0	1.3612e-06	1	1.40363e-06	16	65				
LRFN3	79414	broad.mit.edu	37	19	36430454	36430454	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:36430454G>A	ENST00000588831.1	+	3	1181	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	LRFN3_ENST00000246529.3_Missense_Mutation_p.V43M			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	43	LRRNT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCTAAGCGTGCTGTGCCC	0.721																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(127-129)Gtg>Atg		leucine rich repeat and fibronectin type III domain containing 3							15.0	18.0	17.0					19																	36430454		2163	4236	6399	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430454G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.127G>A	19.37:g.36430454G>A	ENSP00000466989:p.Val43Met					LRFN3_ENST00000246529.3_Missense_Mutation_p.V43M	p.V43M			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1181	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		43			LRRNT.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.127G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307015	0.23821	.	.	ENSG00000126243	ENST00000246529	T	0.55052	0.54	4.49	4.49	0.54785	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.33290	N	0.005076	T	0.29223	0.0727	N	0.08118	0	0.35494	D	0.799223	B	0.34264	0.446	B	0.32022	0.139	T	0.41787	-0.9489	10	0.44086	T	0.13	.	8.8317	0.35087	0.1043:0.0:0.8957:0.0	.	43	Q9BTN0	LRFN3_HUMAN	M	43	ENSP00000246529:V43M	ENSP00000246529:V43M	V	+	1	0	LRFN3	41122294	0.096000	0.21769	0.939000	0.37840	0.912000	0.54170	0.783000	0.26802	2.235000	0.73313	0.455000	0.32223	GTG		0.721	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		15	43	0	0	0	1	0	15	43				
LMX1B	4010	broad.mit.edu	37	9	129376761	129376761	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:129376761G>C	ENST00000373474.4	+	1	40	c.33G>C	c.(31-33)gaG>gaC	p.E11D	LMX1B_ENST00000355497.5_Missense_Mutation_p.E11D|LMX1B_ENST00000561065.1_5'UTR|RP11-123K19.1_ENST00000425370.1_RNA|LMX1B_ENST00000425646.2_5'UTR|RP11-123K19.1_ENST00000451449.2_RNA|LMX1B_ENST00000526117.1_Missense_Mutation_p.E11D|RP11-123K19.1_ENST00000432418.1_RNA			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	11					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGTCGCTGGAGAGGTGCTTCC	0.731									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(31-33)gaG>gaC		LIM homeobox transcription factor 1, beta							15.0	13.0	14.0					9																	129376761		2180	4277	6457	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129376761G>C	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.33G>C	9.37:g.129376761G>C	ENSP00000362573:p.Glu11Asp					LMX1B_ENST00000561065.1_5'UTR|LMX1B_ENST00000373474.4_Missense_Mutation_p.E11D|LMX1B_ENST00000526117.1_Missense_Mutation_p.E11D|LMX1B_ENST00000425646.2_5'UTR	p.E11D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			1	40	+			0					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.33G>C	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	g	13.56	2.274769	0.40194	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497	D;D;D	0.86366	-1.94;-1.94;-2.11	3.17	3.17	0.36434	.	0.099322	0.37437	U	0.002083	T	0.76786	0.4036	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.72909	-0.4149	8	0.20046	T	0.44	.	13.0845	0.59132	0.0:0.0:1.0:0.0	.	.	.	.	D	11	ENSP00000436930:E11D;ENSP00000362573:E11D;ENSP00000347684:E11D	ENSP00000347684:E11D	E	+	3	2	LMX1B	128416582	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.911000	0.28584	1.627000	0.50400	0.388000	0.25769	GAG		0.731	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			10	17	0	0	0	1	0	10	17				
AP3S2	10239	broad.mit.edu	37	15	90378779	90378779	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:90378779T>G	ENST00000336418.4	-	6	942	c.550A>C	c.(550-552)Atc>Ctc	p.I184L	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.I385L|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000558011.1_Missense_Mutation_p.I196L|AP3S2_ENST00000560771.1_5'Flank	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	184					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GGAACTTTGATGTTGAGATCG	0.498																																						ENST00000336418.4																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(550-552)Atc>Ctc		adaptor-related protein complex 3, sigma 2 subunit							213.0	190.0	198.0					15																	90378779		2200	4299	6499	SO:0001583	missense	10239							g.chr15:90378779T>G	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.550A>C	15.37:g.90378779T>G	ENSP00000338777:p.Ile184Leu					AP3S2_ENST00000560940.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.I385L|AP3S2_ENST00000558011.1_Missense_Mutation_p.I196L	p.I184L	NM_005829.4	NP_005820.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		6	942	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)							B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	c.550A>C	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429043	0.62844	.	.	ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000398333	T;T	0.43688	0.96;0.94	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.40543	1.245	0.80722	D	1	B;B	0.22003	0.063;0.001	B;B	0.24006	0.05;0.008	T	0.12502	-1.0545	10	0.37606	T	0.19	-13.9747	13.8142	0.63281	0.0:0.0:0.0:1.0	.	385;184	E2QRD5;P59780	.;AP3S2_HUMAN	L	184;385	ENSP00000338777:I184L;ENSP00000381377:I385L	ENSP00000338777:I184L	I	-	1	0	C15orf38-AP3S2;AP3S2	88179783	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.377000	0.79668	2.220000	0.72140	0.533000	0.62120	ATC		0.498	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			55	128	0	0	0	1	0	55	128				
GPS2	2874	broad.mit.edu	37	17	7216583	7216583	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:7216583G>C	ENST00000380728.2	-	9	1052	c.752C>G	c.(751-753)tCc>tGc	p.S251C	GPS2_ENST00000389167.5_Missense_Mutation_p.S251C|GPS2_ENST00000391950.3_Missense_Mutation_p.S251C|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	251					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTTTTGCAAGGACAGGGCACC	0.552											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(751-753)tCc>tGc		G protein pathway suppressor 2							126.0	123.0	124.0					17																	7216583		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216583G>C	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.752C>G	17.37:g.7216583G>C	ENSP00000370104:p.Ser251Cys		OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	GPS2_ENST00000391950.3_Missense_Mutation_p.S251C|GPS2_ENST00000389167.5_Missense_Mutation_p.S251C|RP11-542C16.2_ENST00000575474.1_3'UTR	p.S251C			Q13227	GPS2_HUMAN			9	1052	-		Prostate(122;0.157)	251					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.752C>G	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605982	0.87157	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.49720	0.77;0.77	4.72	4.72	0.59763	.	0.074623	0.56097	U	0.000038	T	0.45577	0.1349	N	0.14661	0.345	0.52099	D	0.99994	D	0.69078	0.997	P	0.54460	0.753	T	0.53535	-0.8425	10	0.66056	D	0.02	-37.2548	16.6271	0.84974	0.0:0.0:1.0:0.0	.	251	Q13227	GPS2_HUMAN	C	251	ENSP00000370104:S251C;ENSP00000379841:S251C	ENSP00000319371:S251C	S	-	2	0	GPS2	7157307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.449000	0.82847	0.643000	0.83706	TCC		0.552	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		44	118	0	0	0	1	0	44	118				
CCND1	595	broad.mit.edu	37	11	69466022	69466022	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:69466022C>T	ENST00000227507.2	+	5	1087	c.860C>T	c.(859-861)cCc>cTc	p.P287L	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	287					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P287L(1)|p.P287H(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTTGCACACCCACCGACGTG	0.716			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		2	Substitution - Missense(2)	p.P287L(1)|p.P287H(1)	NS(1)|endometrium(1)	NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(859-861)cCc>cTc		cyclin D1	Arsenic trioxide(DB01169)						23.0	19.0	20.0					11																	69466022		2200	4292	6492	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69466022C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.860C>T	11.37:g.69466022C>T	ENSP00000227507:p.Pro287Leu	Multiple Myeloma(6;0.086)					p.P287L	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	1087	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		287					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.860C>T	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189827	0.94923	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.17854	2.25	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57556	-0.7791	10	0.87932	D	0	.	19.5807	0.95467	0.0:1.0:0.0:0.0	.	287	P24385	CCND1_HUMAN	L	287;153	ENSP00000227507:P287L	ENSP00000227507:P287L	P	+	2	0	CCND1	69175203	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.406000	0.66357	2.623000	0.88846	0.655000	0.94253	CCC		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		10	28	0	0	0	1	0	10	28				
RAD52	5893	broad.mit.edu	37	12	1023689	1023689	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:1023689G>C	ENST00000358495.3	-	10	1013	c.875C>G	c.(874-876)cCg>cGg	p.P292R	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.P215R|RAD52_ENST00000430095.2_Missense_Mutation_p.P292R	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	292					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGGAGGGGCCGGAGGCGCTGC	0.517								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(874-876)cCg>cGg	Homologous recombination	RAD52 homolog (S. cerevisiae)							55.0	58.0	57.0					12																	1023689		2081	4196	6277	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023689G>C		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.875C>G	12.37:g.1023689G>C	ENSP00000351284:p.Pro292Arg					RAD52_ENST00000539046.1_Missense_Mutation_p.P215R|RAD52_ENST00000430095.2_Missense_Mutation_p.P292R|RAD52_ENST00000535376.1_5'UTR	p.P292R	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		10	1013	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		292					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.875C>G	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710056	0.30322	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.29917	1.97;1.97;1.55	4.83	2.92	0.33932	.	0.925491	0.09235	N	0.830064	T	0.31638	0.0803	L	0.35414	1.06	0.09310	N	0.999999	P	0.48764	0.915	P	0.49708	0.62	T	0.13602	-1.0503	10	0.51188	T	0.08	-12.0663	8.2538	0.31743	0.0951:0.1725:0.7324:0.0	.	292	P43351	RAD52_HUMAN	R	292;292;215	ENSP00000351284:P292R;ENSP00000387901:P292R;ENSP00000445245:P215R	ENSP00000351284:P292R	P	-	2	0	RAD52	893950	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.286000	0.18902	1.276000	0.44395	0.462000	0.41574	CCG		0.517	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		13	35	0	0	0	1	0	13	35				
NAP1L1	4673	broad.mit.edu	37	12	76453586	76453586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:76453586C>A	ENST00000261182.8	-	6	907	c.421G>T	c.(421-423)Gag>Tag	p.E141*	NAP1L1_ENST00000548044.1_Nonsense_Mutation_p.E100*|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000552342.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.E78*|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.E100*|NAP1L1_ENST00000549596.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000547993.1_5'Flank|NAP1L1_ENST00000535020.2_Nonsense_Mutation_p.E141*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	141	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ACCGAAATCTCATCTTCTTCA	0.289																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(421-423)Gag>Tag		nucleosome assembly protein 1-like 1							90.0	87.0	88.0					12																	76453586		2202	4296	6498	SO:0001587	stop_gained	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76453586C>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.421G>T	12.37:g.76453586C>A	ENSP00000261182:p.Glu141*					NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000535020.2_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000548044.1_Nonsense_Mutation_p.E100*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.E100*|NAP1L1_ENST00000549596.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000552342.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.E78*	p.E141*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			6	907	-		Colorectal(145;0.09)	141			Asp/Glu-rich (acidic).		B3KNT8	Nonsense_Mutation	SNP	ENST00000261182.8	37	c.421G>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046213	0.75846	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000551992;ENST00000548273;ENST00000547704;ENST00000551524	.	.	.	5.49	5.49	0.81192	.	0.240578	0.47852	D	0.000203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.7948	0.96474	0.0:1.0:0.0:0.0	.	.	.	.	X	141;135;141;78;100;141;141;141;100;141;100;141;100	.	ENSP00000261182:E141X	E	-	1	0	NAP1L1	74739853	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	5.823000	0.69272	2.743000	0.94032	0.644000	0.83932	GAG		0.289	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		8	21	1	0	0.00448238	1	0.00451651	8	21				
SYMPK	8189	broad.mit.edu	37	19	46330777	46330777	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:46330777C>T	ENST00000245934.7	-	16	2416	c.2172G>A	c.(2170-2172)gaG>gaA	p.E724E	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	724					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCTTGTCCTTCTCATGGGAGC	0.597																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2170-2172)gaG>gaA		symplekin							109.0	80.0	90.0					19																	46330777		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46330777C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2172G>A	19.37:g.46330777C>T							p.E724E	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	16	2416	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	724					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.2172G>A	CCDS12676.2																																																																																				0.597	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		13	42	0	0	0	1	0	13	42				
ADCY2	108	broad.mit.edu	37	5	7773108	7773108	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:7773108G>A	ENST00000338316.4	+	18	2367	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E580K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	760					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTAAACTATGAGCTGAAGAT	0.502																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2278-2280)Gag>Aag		adenylate cyclase 2 (brain)							253.0	218.0	230.0					5																	7773108		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773108G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2278G>A	5.37:g.7773108G>A	ENSP00000342952:p.Glu760Lys					ADCY2_ENST00000537121.1_Missense_Mutation_p.E580K	p.E760K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			18	2367	+			760					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2278G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927236	0.92389	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81330	-1.0;-1.48	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	M	0.79258	2.445	0.58432	D	0.999993	D;D	0.76494	0.999;0.992	D;D	0.74674	0.984;0.909	D	0.89223	0.3572	10	0.45353	T	0.12	.	15.807	0.78520	0.0:0.0:1.0:0.0	.	580;760	B7Z2C1;Q08462	.;ADCY2_HUMAN	K	760;593;580	ENSP00000342952:E760K;ENSP00000444803:E580K	ENSP00000342952:E760K	E	+	1	0	ADCY2	7826108	1.000000	0.71417	0.802000	0.32245	0.914000	0.54420	9.023000	0.93683	2.261000	0.74972	0.467000	0.42956	GAG		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		46	126	0	0	0	1	0	46	126				
SRPRB	58477	broad.mit.edu	37	3	133524729	133524729	+	Missense_Mutation	SNP	G	G	A	rs139369374	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:133524729G>A	ENST00000466490.2	+	2	322	c.37G>A	c.(37-39)Ggc>Agc	p.G13S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	13					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GGCAGATGGCGGCGGTGCCGG	0.677																																						ENST00000466490.2																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(37-39)Ggc>Agc		signal recognition particle receptor, B subunit							44.0	46.0	45.0					3																	133524729		2203	4299	6502	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133524729G>A	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.37G>A	3.37:g.133524729G>A	ENSP00000418401:p.Gly13Ser						p.G13S	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			2	322	+			13					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.37G>A	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161584	0.21538	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.48201	2.51;0.82	3.82	1.89	0.25635	.	0.542144	0.15641	N	0.251879	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18116	-1.0347	10	0.20519	T	0.43	-0.3471	6.9444	0.24510	0.2411:0.0:0.7589:0.0	.	13	Q9Y5M8	SRPRB_HUMAN	S	13	ENSP00000418401:G13S;ENSP00000417096:G13S	ENSP00000418401:G13S	G	+	1	0	SRPRB	135007419	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	0.193000	0.17116	0.515000	0.28320	-0.355000	0.07637	GGC		0.677	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			34	79	0	0	0	1	0	34	79				
ZFHX4	79776	broad.mit.edu	37	8	77617325	77617325	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:77617325C>G	ENST00000521891.2	+	2	1450	c.1002C>G	c.(1000-1002)agC>agG	p.S334R	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S334R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S334R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S334R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCTTATAAGCTTTCTGGAAC	0.448										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1000-1002)agC>agG		zinc finger homeobox 4							115.0	110.0	111.0					8																	77617325		1827	4088	5915	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617325C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1002C>G	8.37:g.77617325C>G	ENSP00000430497:p.Ser334Arg	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.S334R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S334R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S334R	p.S334R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1450	+			334					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1002C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137253	0.37728	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.65732	-0.17;-0.12;-0.16;-0.17	5.53	5.53	0.82687	.	0.000000	0.53938	U	0.000058	T	0.80954	0.4723	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.85130	0.986;0.994;0.994;0.997	T	0.82080	-0.0634	10	0.87932	D	0	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	334;334;334;334	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	R	334	ENSP00000430497:S334R;ENSP00000399605:S334R;ENSP00000050961:S334R;ENSP00000430848:S334R	ENSP00000050961:S334R	S	+	3	2	ZFHX4	77779880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.603000	0.67619	2.882000	0.98803	0.655000	0.94253	AGC		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	100	0	0	0	1	0	23	100				
MAP3K4	4216	broad.mit.edu	37	6	161508855	161508855	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:161508855G>A	ENST00000392142.4	+	10	2840	c.2692G>A	c.(2692-2694)Gat>Aat	p.D898N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.D898N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D898N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D898N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	898					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CGTACTCATCGATGCCTATCT	0.507																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2692-2694)Gat>Aat		mitogen-activated protein kinase kinase kinase 4							155.0	130.0	139.0					6																	161508855		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161508855G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2692G>A	6.37:g.161508855G>A	ENSP00000375986:p.Asp898Asn					MAP3K4_ENST00000348824.7_Missense_Mutation_p.D898N|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D898N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D898N	p.D898N	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	10	2840	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	898					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2692G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424551	0.62733	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72282	-0.64;-0.64;-0.63;-0.64	5.46	5.46	0.80206	.	0.125473	0.53938	D	0.000058	T	0.65852	0.2731	L	0.47716	1.5	0.49130	D	0.999751	D;D;P	0.67145	0.996;0.964;0.939	P;P;B	0.54174	0.744;0.499;0.323	T	0.60702	-0.7211	10	0.12103	T	0.63	-39.3742	19.6793	0.95956	0.0:0.0:1.0:0.0	.	898;898;898	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	N	898	ENSP00000355886:D898N;ENSP00000375986:D898N;ENSP00000355887:D898N;ENSP00000297332:D898N	ENSP00000297332:D898N	D	+	1	0	MAP3K4	161428845	1.000000	0.71417	0.239000	0.24122	0.004000	0.04260	9.181000	0.94874	2.713000	0.92767	0.655000	0.94253	GAT		0.507	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			4	98	0	0	0	1	0	4	98				
RAD23B	5887	broad.mit.edu	37	9	110091856	110091856	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:110091856G>C	ENST00000358015.3	+	10	1500	c.1149G>C	c.(1147-1149)gtG>gtC	p.V383V	RAD23B_ENST00000416373.2_Silent_p.V311V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	383	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)	p.V383V(1)		breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAGGACTTGTGATACAAGCGT	0.318								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			1	Substitution - coding silent(1)	p.V383V(1)	upper_aerodigestive_tract(1)	breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1147-1149)gtG>gtC	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							83.0	84.0	83.0					9																	110091856		2203	4300	6503	SO:0001819	synonymous_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110091856G>C		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1149G>C	9.37:g.110091856G>C						RAD23B_ENST00000416373.2_Silent_p.V311V	p.V383V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			10	1500	+			383			UBA 2.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Silent	SNP	ENST00000358015.3	37	c.1149G>C	CCDS6769.1																																																																																				0.318	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		40	65	0	0	0	1	0	40	65				
GGA1	26088	broad.mit.edu	37	22	38012933	38012933	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:38012933C>G	ENST00000343632.4	+	3	519	c.133C>G	c.(133-135)Cca>Gca	p.P45A	GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000325180.8_Missense_Mutation_p.P45A|GGA1_ENST00000414350.3_Missense_Mutation_p.P45A|GGA1_ENST00000381756.5_Missense_Mutation_p.P45A|GGA1_ENST00000337437.4_Missense_Mutation_p.P45A|GGA1_ENST00000405147.3_Missense_Mutation_p.P45A	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	45	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACCCAGGCCTCCACTCGCCAC	0.682																																						ENST00000343632.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(133-135)Cca>Gca		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							53.0	43.0	47.0					22																	38012933		2202	4297	6499	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38012933C>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.133C>G	22.37:g.38012933C>G	ENSP00000341344:p.Pro45Ala					GGA1_ENST00000325180.8_Missense_Mutation_p.P45A|GGA1_ENST00000414350.3_Missense_Mutation_p.P45A|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Missense_Mutation_p.P45A|GGA1_ENST00000381756.5_Missense_Mutation_p.P45A|GGA1_ENST00000337437.4_Missense_Mutation_p.P45A	p.P45A	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN			3	519	+	Melanoma(58;0.0574)		45			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.133C>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410374	0.83340	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.43	5.43	0.79202	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.052628	0.85682	D	0.000000	T	0.38161	0.1030	L	0.41236	1.265	0.58432	D	0.999996	P;P;B;D	0.62365	0.711;0.948;0.002;0.991	P;P;B;D	0.65140	0.618;0.741;0.012;0.932	T	0.03086	-1.1074	10	0.44086	T	0.13	-13.443	19.2516	0.93926	0.0:1.0:0.0:0.0	.	45;45;45;45	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	A	45;45;45;45;45;45;37	ENSP00000414387:P45A;ENSP00000341344:P45A;ENSP00000371175:P45A;ENSP00000384030:P45A;ENSP00000321288:P45A;ENSP00000338647:P45A;ENSP00000390416:P37A	ENSP00000321288:P45A	P	+	1	0	GGA1	36342879	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.864000	0.69575	2.550000	0.86006	0.650000	0.86243	CCA		0.682	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		5	12	0	0	0	1	0	5	12				
ACTL6A	86	broad.mit.edu	37	3	179287900	179287900	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:179287900G>A	ENST00000429709.2	+	3	361	c.148G>A	c.(148-150)Gga>Aga	p.G50R	ACTL6A_ENST00000392662.1_Missense_Mutation_p.G8R|ACTL6A_ENST00000450518.2_Missense_Mutation_p.G8R	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	50					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAGAGATGACGGAAGCACATT	0.423																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(148-150)Gga>Aga		actin-like 6A							181.0	164.0	170.0					3																	179287900		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179287900G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.148G>A	3.37:g.179287900G>A	ENSP00000397552:p.Gly50Arg					ACTL6A_ENST00000392662.1_Missense_Mutation_p.G8R|ACTL6A_ENST00000450518.2_Missense_Mutation_p.G8R	p.G50R	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		3	361	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		50					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.148G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447444	0.84101	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662;ENST00000490364	D;D;D	0.94537	-3.35;-3.45;-3.45	5.7	5.7	0.88788	.	0.050871	0.85682	D	0.000000	D	0.90642	0.7065	N	0.19112	0.55	0.80722	D	1	P	0.39116	0.66	B	0.37480	0.251	D	0.91315	0.5077	10	0.72032	D	0.01	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	50	O96019	ACL6A_HUMAN	R	50;8;8;8	ENSP00000397552:G50R;ENSP00000394014:G8R;ENSP00000376430:G8R	ENSP00000376430:G8R	G	+	1	0	ACTL6A	180770594	1.000000	0.71417	0.998000	0.56505	0.782000	0.44232	9.869000	0.99810	2.677000	0.91161	0.650000	0.86243	GGA		0.423	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		5	138	0	0	0	1	0	5	138				
HLX	3142	broad.mit.edu	37	1	221053273	221053273	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:221053273C>T	ENST00000366903.6	+	1	1575	c.74C>T	c.(73-75)gCc>gTc	p.A25V	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	25					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TGCTCCTCGGCCGGCCCAGGC	0.697																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(73-75)gCc>gTc		H2.0-like homeobox							7.0	9.0	8.0					1																	221053273		2101	4167	6268	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053273C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.74C>T	1.37:g.221053273C>T	ENSP00000355870:p.Ala25Val					HLA-AS1_ENST00000552026.1_RNA	p.A25V	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	1575	+			25					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.74C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703040	0.68501	.	.	ENSG00000136630	ENST00000366903	D	0.92199	-2.99	4.36	3.43	0.39272	.	0.100234	0.41605	D	0.000857	D	0.85936	0.5813	N	0.19112	0.55	0.80722	D	1	B	0.18013	0.025	B	0.20767	0.031	T	0.82697	-0.0329	10	0.72032	D	0.01	-12.9401	14.1388	0.65306	0.0:0.8481:0.1519:0.0	.	25	Q14774	HLX_HUMAN	V	25	ENSP00000355870:A25V	ENSP00000355870:A25V	A	+	2	0	HLX	219119896	0.998000	0.40836	0.986000	0.45419	0.890000	0.51754	2.492000	0.45311	1.153000	0.42468	0.555000	0.69702	GCC		0.697	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		5	13	0	0	0	1	0	5	13				
C9orf131	138724	broad.mit.edu	37	9	35043437	35043437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:35043437C>T	ENST00000312292.5	+	2	858	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	C9orf131_ENST00000421362.2_Nonsense_Mutation_p.Q223*|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.Q198*|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	271										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCCGATCCTCAGCTGCTTCC	0.547																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(811-813)Cag>Tag		chromosome 9 open reading frame 131							146.0	129.0	135.0					9																	35043437		2203	4300	6503	SO:0001587	stop_gained	138724							g.chr9:35043437C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.811C>T	9.37:g.35043437C>T	ENSP00000308279:p.Gln271*					C9orf131_ENST00000421362.2_Nonsense_Mutation_p.Q223*|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.Q198*	p.Q271*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	858	+	all_epithelial(49;0.22)		271					A6NLE6|E9PB26|Q86XC6|Q9UF74	Nonsense_Mutation	SNP	ENST00000312292.5	37	c.811C>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141657	0.37825	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	.	.	.	4.95	3.0	0.34707	.	0.974484	0.08379	N	0.954771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	0.9629	7.7605	0.28948	0.186:0.6345:0.1795:0.0	.	.	.	.	X	223;198;271;236	.	ENSP00000308279:Q271X	Q	+	1	0	C9orf131	35033437	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.617000	0.24359	0.609000	0.30018	0.650000	0.86243	CAG		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		6	174	0	0	0	1	0	6	174				
MFSD8	256471	broad.mit.edu	37	4	128886243	128886243	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:128886243C>T	ENST00000296468.3	-	2	173	c.46G>A	c.(46-48)Gac>Aac	p.D16N	C4orf29_ENST00000444616.1_5'Flank|MFSD8_ENST00000513559.1_Intron|C4orf29_ENST00000398965.1_5'Flank|C4orf29_ENST00000388795.5_5'Flank|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	16					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CCAGGTGTGTCGCCTAAGAGC	0.617																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(46-48)Gac>Aac		major facilitator superfamily domain containing 8							67.0	61.0	63.0					4																	128886243		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128886243C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.46G>A	4.37:g.128886243C>T	ENSP00000296468:p.Asp16Asn					MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Intron|MFSD8_ENST00000541133.1_Intron	p.D16N	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			2	173	-			16					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.46G>A	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	2.639	-0.284584	0.05605	.	.	ENSG00000164073	ENST00000296468	D	0.84800	-1.9	4.52	-0.66	0.11421	.	0.624615	0.16098	N	0.229734	T	0.70422	0.3222	L	0.36672	1.1	0.09310	N	0.999994	B;P	0.49358	0.325;0.923	B;B	0.33392	0.028;0.163	T	0.62320	-0.6879	10	0.23302	T	0.38	3.086	10.6164	0.45454	0.0:0.3033:0.6084:0.0882	.	16;16	B7Z280;Q8NHS3	.;MFSD8_HUMAN	N	16	ENSP00000296468:D16N	ENSP00000296468:D16N	D	-	1	0	MFSD8	129105693	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.603000	0.05674	-0.319000	0.08652	-0.291000	0.09656	GAC		0.617	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		8	24	0	0	0	1	0	8	24				
PCDHB16	57717	broad.mit.edu	37	5	140563747	140563747	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:140563747C>T	ENST00000361016.2	+	1	2768	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGCGGCTCCCCGGCTTTG	0.682																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1612-1614)tCc>tTc									25.0	28.0	27.0					5																	140563747		1822	3333	5155	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563747C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1613C>T	5.37:g.140563747C>T	ENSP00000354293:p.Ser538Phe						p.S538F	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2768	+			538			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1613C>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	11.13	1.547516	0.27652	.	.	ENSG00000196963	ENST00000361016	T	0.01838	4.61	4.12	4.12	0.48240	Cadherin (4);Cadherin-like (1);	0.284575	0.19128	N	0.122005	T	0.05502	0.0145	M	0.61703	1.905	0.31398	N	0.677043	B	0.30563	0.285	B	0.40477	0.33	T	0.00792	-1.1564	10	0.51188	T	0.08	.	12.1245	0.53909	0.1723:0.8277:0.0:0.0	.	538	Q9NRJ7	PCDBG_HUMAN	F	538	ENSP00000354293:S538F	ENSP00000354293:S538F	S	+	2	0	PCDHB16	140543931	0.000000	0.05858	0.318000	0.25279	0.193000	0.23685	1.044000	0.30329	1.860000	0.53959	0.479000	0.44913	TCC		0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		47	42	0	0	0	1	0	47	42				
TTN	7273	broad.mit.edu	37	2	179575889	179575889	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:179575889G>C	ENST00000591111.1	-	95	27347	c.27123C>G	c.(27121-27123)ctC>ctG	p.L9041L	TTN_ENST00000589042.1_Silent_p.L9358L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L8114L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13179	Ig-like 73.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAAATATTGAGTGTGGCTG	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(28072-28074)ctC>ctG		titin							162.0	161.0	162.0					2																	179575889		1854	4097	5951	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575889G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27123C>G	2.37:g.179575889G>C						TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L8114L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L9041L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.L9358L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		97	28298	-			9041			Ig-like 76.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.28074C>G																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	184	0	0	0	1	0	6	184				
COL6A5	256076	broad.mit.edu	37	3	130159096	130159096	+	Silent	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:130159096C>A	ENST00000432398.2	+	35	6408	c.5914C>A	c.(5914-5916)Cgg>Agg	p.R1972R	COL6A5_ENST00000265379.6_Silent_p.R1972R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1972	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGACAATTCTCGGAATATAGC	0.403																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(5914-5916)Cgg>Agg		collagen, type VI, alpha 5							79.0	73.0	75.0					3																	130159096		1877	4102	5979	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130159096C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5914C>A	3.37:g.130159096C>A						COL6A5_ENST00000432398.2_Silent_p.R1972R	p.R1972R			A8TX70	CO6A5_HUMAN			35	6408	+			1972			Nonhelical region.|VWFA 9.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.5914C>A		.	.	.	.	.	.	.	.	.	.	c	0.148	-1.094285	0.01858	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.63	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.5524	0.04752	0.2747:0.4566:0.1228:0.146	.	.	.	.	X	223	.	ENSP00000422898:S223X	S	+	2	0	COL6A5	131641786	0.000000	0.05858	0.289000	0.24876	0.214000	0.24535	0.530000	0.23036	0.267000	0.21916	-0.213000	0.12676	TCG		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		9	28	1	0	1.12685e-05	1	1.15299e-05	9	28				
SGSM2	9905	broad.mit.edu	37	17	2275527	2275527	+	Missense_Mutation	SNP	G	G	A	rs202161088		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:2275527G>A	ENST00000426855.2	+	13	1661	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	SGSM2_ENST00000268989.3_Missense_Mutation_p.V541M|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.V496M	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	496					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GAGGCAGATCGTGTCCCGGGC	0.706																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1621-1623)Gtg>Atg		small G protein signaling modulator 2		G	MET/VAL,MET/VAL	0,4406		0,0,2203	63.0	67.0	65.0		1486,1621	3.4	0.8	17		65	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	SGSM2	NM_001098509.1,NM_014853.2	21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	496/1007,541/1052	2275527	2,13004	2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2275527G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1486G>A	17.37:g.2275527G>A	ENSP00000415107:p.Val496Met					SGSM2_ENST00000426855.2_Missense_Mutation_p.V496M|SGSM2_ENST00000574563.1_Missense_Mutation_p.V496M	p.V541M	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	14	1798	+			496					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.1621G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	g	13.28	2.189788	0.38707	0.0	2.33E-4	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.13538	2.58;2.6	5.42	3.42	0.39159	.	0.058404	0.64402	D	0.000002	T	0.31513	0.0799	M	0.68593	2.085	0.48901	D	0.999727	D;P;P;P	0.89917	1.0;0.856;0.73;0.906	D;B;B;B	0.70227	0.968;0.164;0.095;0.384	T	0.02728	-1.1118	10	0.45353	T	0.12	-7.0907	11.5594	0.50768	0.205:0.0:0.795:0.0	.	496;84;496;541	O43147-5;O43147-3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	M	541;496	ENSP00000268989:V541M;ENSP00000415107:V496M	ENSP00000268989:V541M	V	+	1	0	SGSM2	2222277	0.859000	0.29813	0.841000	0.33234	0.970000	0.65996	1.150000	0.31639	1.280000	0.44463	-0.211000	0.12701	GTG		0.706	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		37	109	0	0	0	1	0	37	109				
KCNA5	3741	broad.mit.edu	37	12	5153736	5153736	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:5153736C>T	ENST00000252321.3	+	1	652	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	141					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGGCGCAGTTCCCCAACACAC	0.662																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(421-423)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 5							29.0	31.0	30.0					12																	5153736		2203	4300	6503	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153736C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.423C>T	12.37:g.5153736C>T							p.F141F	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	652	+			141					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.423C>T	CCDS8536.1																																																																																				0.662	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		4	63	0	0	0	1	0	4	63				
MFSD2A	84879	broad.mit.edu	37	1	40434075	40434075	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:40434075C>T	ENST00000372809.5	+	12	1460	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	MFSD2A_ENST00000372811.5_Silent_p.I426I|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.I270I	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	439					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGAGCCCATCTTCTTCTCCT	0.552																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1315-1317)atC>atT		major facilitator superfamily domain containing 2A							175.0	143.0	154.0					1																	40434075		2203	4300	6503	SO:0001819	synonymous_variant	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40434075C>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1317C>T	1.37:g.40434075C>T						MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.I270I|MFSD2A_ENST00000372811.5_Silent_p.I426I	p.I439I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			12	1460	+			439					A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	c.1317C>T	CCDS44118.1																																																																																				0.552	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		20	50	0	0	0	1	0	20	50				
KLHL41	10324	broad.mit.edu	37	2	170371456	170371456	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:170371456G>A	ENST00000284669.1	+	3	1438	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	BBS5_ENST00000554017.1_Missense_Mutation_p.G392E|KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.G392E	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	454					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGTCTAGGAGGAAAGACAGAT	0.323																																						ENST00000284669.1																			0											c.(1360-1362)gGa>gAa		kelch-like family member 41							63.0	65.0	64.0					2																	170371456		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170371456G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1361G>A	2.37:g.170371456G>A	ENSP00000284669:p.Gly454Glu					RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.G392E|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.G392E	p.G454E	NM_006063.2	NP_006054.2					3	1438	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1361G>A	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800143	0.90538	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	D;D;D	0.99494	-6.01;-6.01;-6.01	5.88	5.88	0.94601	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97404	0.9998	10	0.87932	D	0	.	20.2371	0.98361	0.0:0.0:1.0:0.0	.	392;454	E9PBE3;O60662	.;KBTBA_HUMAN	E	392;392;454	ENSP00000452313:G392E;ENSP00000424363:G392E;ENSP00000284669:G454E	ENSP00000284669:G454E	G	+	2	0	BBS5;RP11-724O16.1;KBTBD10	170079702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.421000	0.97455	2.788000	0.95919	0.555000	0.69702	GGA		0.323	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		12	47	0	0	0	1	0	12	47				
KRT83	3889	broad.mit.edu	37	12	52713011	52713011	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:52713011C>T	ENST00000293670.3	-	2	584	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	174	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCAGCCTCCACGCACTCGG	0.612																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(520-522)gtG>gtA		keratin 83							97.0	106.0	103.0					12																	52713011		2203	4300	6503	SO:0001819	synonymous_variant	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52713011C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.522G>A	12.37:g.52713011C>T							p.V174V	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	584	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		174			Coil 1B.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	c.522G>A	CCDS8823.1																																																																																				0.612	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		38	110	0	0	0	1	0	38	110				
PHPT1	29085	broad.mit.edu	37	9	139748249	139748249	+	IGR	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:139748249G>C	ENST00000247665.10	+	0	890				MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.E159Q|MAMDC4_ENST00000317446.2_Missense_Mutation_p.E159Q	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACTGCGGGTGGAGCTGACCCA	0.706																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(475-477)Gag>Cag		MAM domain containing 4							20.0	25.0	23.0					9																	139748249		2196	4295	6491	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748249G>C	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748249G>C						MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.E159Q	p.E159Q			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	525	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	159			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.475G>C	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.50|10.50	1.368952|1.368952	0.24771|0.24771	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02121|.	4.44;4.44|.	4.69|4.69	3.77|3.77	0.43336|0.43336	.|.	0.388786|.	0.21797|.	N|.	0.068970|.	T|T	0.43678|0.43678	0.1258|0.1258	L|L	0.46157|0.46157	1.445|1.445	0.24303|0.24303	N|N	0.995118|0.995118	B|.	0.19331|.	0.035|.	B|.	0.19391|.	0.025|.	T|T	0.26258|0.26258	-1.0108|-1.0108	10|5	0.33940|.	T|.	0.23|.	-19.7871|-19.7871	12.2464|12.2464	0.54572|0.54572	0.0:0.3297:0.6703:0.0|0.0:0.3297:0.6703:0.0	.|.	159|.	Q6UXC1-2|.	.|.	Q|A	159|140	ENSP00000319388:E159Q;ENSP00000411339:E159Q|.	ENSP00000319388:E159Q|.	E|G	+|+	1|2	0|0	MAMDC4|MAMDC4	138868070|138868070	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.017000|0.017000	0.09413|0.09413	2.568000|2.568000	0.45965|0.45965	0.941000|0.941000	0.37499|0.37499	-0.479000|-0.479000	0.04858|0.04858	GAG|GGA		0.706	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		22	56	0	0	0	1	0	22	56				
ADCY5	111	broad.mit.edu	37	3	123018978	123018978	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:123018978G>A	ENST00000462833.1	-	15	4101	c.2889C>T	c.(2887-2889)acC>acT	p.T963T	ADCY5_ENST00000309879.5_Silent_p.T613T|ADCY5_ENST00000491190.1_Silent_p.T596T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	963					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGCGTTGGCGGTGACCAGCA	0.612																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2887-2889)acC>acT		adenylate cyclase 5							126.0	100.0	109.0					3																	123018978		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123018978G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2889C>T	3.37:g.123018978G>A						ADCY5_ENST00000491190.1_Silent_p.T596T|ADCY5_ENST00000309879.5_Silent_p.T613T	p.T963T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	15	4101	-			963					B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2889C>T	CCDS3022.1																																																																																				0.612	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		17	57	0	0	0	1	0	17	57				
HTR3A	3359	broad.mit.edu	37	11	113851964	113851964	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:113851964T>G	ENST00000504030.2	+	4	749	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V	HTR3A_ENST00000375498.2_Missense_Mutation_p.F108V|HTR3A_ENST00000355556.2_Missense_Mutation_p.F108V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Missense_Mutation_p.F87V|HTR3A_ENST00000506841.2_Missense_Mutation_p.F102V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	102					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCTGAGGACTTTGACAACAT	0.552																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(304-306)Ttt>Gtt		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						141.0	105.0	117.0					11																	113851964		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113851964T>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.304T>G	11.37:g.113851964T>G	ENSP00000424189:p.Phe102Val					HTR3A_ENST00000355556.2_Missense_Mutation_p.F108V|HTR3A_ENST00000375498.2_Missense_Mutation_p.F108V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.F102V|HTR3A_ENST00000299961.5_Missense_Mutation_p.F87V	p.F102V			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	4	749	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	102					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.304T>G		.	.	.	.	.	.	.	.	.	.	T	26.8	4.772318	0.90108	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90566	0.7043	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.77557	0.958;0.99;0.958	D	0.92220	0.5783	10	0.87932	D	0	-16.6941	14.7288	0.69365	0.0:0.0:0.0:1.0	.	87;108;108	B4DSY6;G5E986;Q7KZM7	.;.;.	V	102;108;108;102;87	ENSP00000424189:F102V;ENSP00000347754:F108V;ENSP00000364648:F108V;ENSP00000424776:F102V;ENSP00000299961:F87V	ENSP00000299961:F87V	F	+	1	0	HTR3A	113357174	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.985000	0.88162	2.071000	0.62044	0.459000	0.35465	TTT		0.552	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		17	45	0	0	0	1	0	17	45				
SLC25A25	114789	broad.mit.edu	37	9	130863668	130863668	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:130863668C>G	ENST00000373064.5	+	3	630	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	SLC25A25_ENST00000373069.5_Missense_Mutation_p.L157V|SLC25A25_ENST00000373068.2_Missense_Mutation_p.L157V|SLC25A25_ENST00000433501.1_Missense_Mutation_p.L20V|SLC25A25_ENST00000373066.5_Missense_Mutation_p.L143V|SLC25A25_ENST00000432073.2_Missense_Mutation_p.L143V	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	123	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGAAAAAATTCTCAAGAGGTG	0.537																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(427-429)Ctc>Gtc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							40.0	47.0	45.0					9																	130863668		2203	4299	6502	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130863668C>G	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.367C>G	9.37:g.130863668C>G	ENSP00000362155:p.Leu123Val					SLC25A25_ENST00000373068.2_Missense_Mutation_p.L157V|SLC25A25_ENST00000432073.2_Missense_Mutation_p.L143V|SLC25A25_ENST00000433501.1_Missense_Mutation_p.L20V|SLC25A25_ENST00000373064.5_Missense_Mutation_p.L123V|SLC25A25_ENST00000373069.5_Missense_Mutation_p.L157V	p.L143V	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			3	834	+			123			EF-hand 3.		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.427C>G	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407890	0.42715	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.80214	-0.66;0.84;-0.66;-0.48;-0.66;-1.35	5.13	4.23	0.50019	EF-hand-like domain (1);	0.117682	0.64402	D	0.000015	D	0.84938	0.5583	M	0.64080	1.96	0.80722	D	1	B;B;B;P	0.51147	0.242;0.313;0.313;0.942	B;B;B;P	0.58266	0.21;0.202;0.202;0.836	T	0.83212	-0.0073	10	0.33141	T	0.24	-7.9091	12.9345	0.58305	0.0:0.9213:0.0:0.0787	.	123;143;143;157	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	V	157;157;143;143;123;20	ENSP00000362159:L157V;ENSP00000362160:L157V;ENSP00000410053:L143V;ENSP00000362157:L143V;ENSP00000362155:L123V;ENSP00000401672:L20V	ENSP00000362155:L123V	L	+	1	0	SLC25A25	129903489	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.957000	0.63652	1.158000	0.42547	0.306000	0.20318	CTC		0.537	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		5	64	0	0	0	1	0	5	64				
XCR1	2829	broad.mit.edu	37	3	46063050	46063050	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:46063050C>T	ENST00000309285.3	-	2	746	c.390G>A	c.(388-390)tcG>tcA	p.S130S	XCR1_ENST00000542109.1_Silent_p.S130S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	130					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGCTCACTACCGACAGGTAGC	0.592																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(388-390)tcG>tcA		chemokine (C motif) receptor 1							53.0	55.0	54.0					3																	46063050		2203	4300	6503	SO:0001819	synonymous_variant	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063050C>T		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.390G>A	3.37:g.46063050C>T						XCR1_ENST00000542109.1_Silent_p.S130S	p.S130S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	746	-			130						Silent	SNP	ENST00000309285.3	37	c.390G>A	CCDS2736.1																																																																																				0.592	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			9	27	0	0	0	1	0	9	27				
AP3D1	8943	broad.mit.edu	37	19	2112870	2112870	+	Intron	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:2112870C>T	ENST00000345016.5	-	23	2833				AP3D1_ENST00000355272.6_Missense_Mutation_p.D926N|AP3D1_ENST00000356926.4_Missense_Mutation_p.D823N|AP3D1_ENST00000350812.6_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTCCTGGTCTTGCCCCTCG	0.672																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2776-2778)Gac>Aac		adaptor-related protein complex 3, delta 1 subunit							65.0	72.0	70.0					19																	2112870		2181	4252	6433	SO:0001627	intron_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2112870C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2602-1043G>A	19.37:g.2112870C>T						AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000356926.4_Missense_Mutation_p.D823N|AP3D1_ENST00000345016.5_Intron	p.D926N	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	2982	-		Hepatocellular(1079;0.137)	872					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.2776G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270704	0.40194	.	.	ENSG00000065000	ENST00000356926;ENST00000355272	T;T	0.28895	2.23;1.59	3.53	2.49	0.30216	.	0.439267	0.19152	U	0.121410	T	0.18759	0.0450	L	0.36672	1.1	0.23984	N	0.996267	P;P	0.36535	0.557;0.557	B;B	0.33750	0.169;0.169	T	0.09751	-1.0660	10	0.21014	T	0.42	-5.2762	6.5595	0.22479	0.0:0.8695:0.0:0.1305	.	926;823	O14617-5;G5E988	.;.	N	823;926	ENSP00000349398:D823N;ENSP00000347416:D926N	ENSP00000347416:D926N	D	-	1	0	AP3D1	2063870	0.078000	0.21339	0.011000	0.14972	0.110000	0.19582	1.935000	0.40173	1.063000	0.40649	0.561000	0.74099	GAC		0.672	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			12	46	0	0	0	1	0	12	46				
FAM170A	340069	broad.mit.edu	37	5	118969673	118969673	+	Missense_Mutation	SNP	G	G	A	rs373177857		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:118969673G>A	ENST00000515256.1	+	3	402	c.230G>A	c.(229-231)cGa>cAa	p.R77Q				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	77					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGAATACATCGAGACAGCCCC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19026	0.0		0.001	False		,,,				2504	0.0					ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(229-231)cGa>cAa		family with sequence similarity 170, member A		G	GLN/ARG,GLN/ARG	0,3968		0,0,1984	80.0	85.0	83.0		89,230	-6.3	0.0	5		83	1,8333		0,1,4166	no	missense,missense	FAM170A	NM_001163991.1,NM_182761.3	43,43	0,1,6150	AA,AG,GG		0.012,0.0,0.0081	benign,benign	30/283,77/330	118969673	1,12301	1984	4167	6151	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118969673G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.230G>A	5.37:g.118969673G>A	ENSP00000422684:p.Arg77Gln						p.R77Q			A1A519	F170A_HUMAN			3	402	+			77					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.230G>A		.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007023	0.02112	0.0	1.2E-4	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.30182	1.54;1.54	4.35	-6.33	0.01988	.	1.574610	0.03598	N	0.232996	T	0.18045	0.0433	N	0.16066	0.365	0.09310	N	1	B;B;B	0.23891	0.021;0.052;0.093	B;B;B	0.12837	0.005;0.008;0.005	T	0.15321	-1.0441	9	.	.	.	4.1474	14.694	0.69107	0.7897:0.0:0.2103:0.0	.	30;77;77	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	Q	30;77;77	ENSP00000422684:R77Q;ENSP00000423697:R77Q	.	R	+	2	0	FAM170A	118997572	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.240000	0.02914	-1.689000	0.01434	-1.105000	0.02106	CGA		0.512	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		22	59	0	0	0	1	0	22	59				
SPINK5	11005	broad.mit.edu	37	5	147499606	147499606	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:147499606A>C	ENST00000256084.7	+	25	2390	c.2348A>C	c.(2347-2349)aAt>aCt	p.N783T	SPINK5_ENST00000398454.1_Missense_Mutation_p.N783T|SPINK5_ENST00000359874.3_Missense_Mutation_p.N783T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	783	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGAAAAATGGAAAACTC	0.378																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(2347-2349)aAt>aCt		serine peptidase inhibitor, Kazal type 5							74.0	66.0	68.0					5																	147499606		1841	4092	5933	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147499606A>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2348A>C	5.37:g.147499606A>C	ENSP00000256084:p.Asn783Thr					SPINK5_ENST00000398454.1_Missense_Mutation_p.N783T|SPINK5_ENST00000256084.7_Missense_Mutation_p.N783T	p.N783T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		25	2421	+			783			Kazal-like 12.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2348A>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738605	0.69304	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.56	5.56	0.83823	Proteinase inhibitor I1, Kazal (1);	0.115280	0.39475	N	0.001350	T	0.24774	0.0601	M	0.73962	2.25	0.29128	N	0.879843	D;D;D;D	0.76494	0.992;0.999;0.999;0.999	P;D;D;D	0.76071	0.893;0.986;0.971;0.987	T	0.12142	-1.0559	10	0.14656	T	0.56	-27.7104	12.402	0.55418	1.0:0.0:0.0:0.0	.	764;783;783;783	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	T	783;783;764;783	ENSP00000381472:N783T;ENSP00000352936:N783T;ENSP00000421519:N764T;ENSP00000256084:N783T	ENSP00000256084:N783T	N	+	2	0	SPINK5	147479799	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.229000	0.51278	2.253000	0.74438	0.455000	0.32223	AAT		0.378	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		7	25	0	0	0	1	0	7	25				
ADAR	103	broad.mit.edu	37	1	154574693	154574693	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:154574693C>T	ENST00000368474.4	-	2	624	c.425G>A	c.(424-426)aGg>aAg	p.R142K	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R185K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	142					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTTTAAGATCCTTTGTTCCTG	0.488																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(424-426)aGg>aAg		adenosine deaminase, RNA-specific							73.0	76.0	75.0					1																	154574693		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574693C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.425G>A	1.37:g.154574693C>T	ENSP00000357459:p.Arg142Lys					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R185K	p.R142K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	624	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		142					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.425G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511815	0.27036	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.78364	-1.17;-1.17;-1.17	4.62	-0.624	0.11552	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.802457	0.11741	N	0.534015	T	0.34890	0.0913	N	0.20685	0.6	0.09310	N	1	B;B;B	0.12013	0.002;0.005;0.002	B;B;B	0.10450	0.002;0.003;0.005	T	0.24835	-1.0149	10	0.18710	T	0.47	-16.9667	6.1173	0.20134	0.0:0.498:0.1238:0.3782	.	142;142;142	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	K	185;142;137	ENSP00000292205:R185K;ENSP00000357459:R142K;ENSP00000431794:R137K	ENSP00000292205:R185K	R	-	2	0	ADAR	152841317	0.000000	0.05858	0.002000	0.10522	0.803000	0.45373	0.045000	0.14013	-0.203000	0.10251	-0.333000	0.08304	AGG		0.488	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		37	98	0	0	0	1	0	37	98				
NIN	51199	broad.mit.edu	37	14	51230664	51230664	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:51230664C>G	ENST00000382041.3	-	15	1844	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	NIN_ENST00000389868.3_Missense_Mutation_p.D552H|NIN_ENST00000324330.9_Missense_Mutation_p.D552H|NIN_ENST00000245441.5_Missense_Mutation_p.D552H|NIN_ENST00000453196.1_Missense_Mutation_p.D552H|NIN_ENST00000382043.4_Missense_Mutation_p.D552H|NIN_ENST00000530997.2_Missense_Mutation_p.D552H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	552					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGGAGTTCATCTACTTGGTCT	0.433			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(1654-1656)Gat>Cat		ninein (GSK3B interacting protein)							115.0	98.0	104.0					14																	51230664		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51230664C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1654G>C	14.37:g.51230664C>G	ENSP00000371472:p.Asp552His					NIN_ENST00000382041.3_Missense_Mutation_p.D552H|NIN_ENST00000324330.9_Missense_Mutation_p.D552H|NIN_ENST00000389868.3_Missense_Mutation_p.D552H|NIN_ENST00000382043.4_Missense_Mutation_p.D552H|NIN_ENST00000453196.1_Missense_Mutation_p.D552H|NIN_ENST00000530997.2_Missense_Mutation_p.D552H	p.D552H	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			15	1844	-	all_epithelial(31;0.00244)|Breast(41;0.127)		552					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1654G>C	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.359996|4.359996	0.82353|0.82353	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.42131|.	1.46;0.98;1.01;1.22;1.23;1.22|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77980|0.77980	0.4212|0.4212	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;0.998;0.999|.	T|T	0.77920|0.77920	-0.2407|-0.2407	10|5	0.87932|.	D|.	0|.	-24.2892|-24.2892	16.8146|16.8146	0.85730|0.85730	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	558;552;552;552;552|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	H|T	552;535;552;552;558;552;552;552|42	ENSP00000245441:D552H;ENSP00000374518:D552H;ENSP00000371474:D552H;ENSP00000371472:D552H;ENSP00000324210:D552H;ENSP00000412391:D552H|.	ENSP00000245441:D552H|.	D|R	-|-	1|2	0|0	NIN|NIN	50300414|50300414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	6.116000|6.116000	0.71571|0.71571	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.433	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		27	71	0	0	0	1	0	27	71				
CCDC116	164592	broad.mit.edu	37	22	21989155	21989155	+	Missense_Mutation	SNP	G	G	A	rs147529801		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:21989155G>A	ENST00000292779.3	+	4	964	c.803G>A	c.(802-804)cGc>cAc	p.R268H	CCDC116_ENST00000607942.1_Missense_Mutation_p.R268H	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	268										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCAATCTTCCGCAAGCGAGAG	0.602																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(802-804)cGc>cAc		coiled-coil domain containing 116		A	HIS/ARG	0,4406		0,0,2203	87.0	87.0	87.0		803	-1.8	0.0	22	dbSNP_134	87	1,8599	2.2+/-6.3	0,1,4299	yes	missense	CCDC116	NM_152612.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	268/614	21989155	1,13005	2203	4300	6503	SO:0001583	missense	164592							g.chr22:21989155G>A	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.803G>A	22.37:g.21989155G>A	ENSP00000292779:p.Arg268His						p.R268H	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	964	+	Colorectal(54;0.105)		268					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.803G>A	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	g	1.558	-0.537342	0.04082	0.0	1.16E-4	ENSG00000161180	ENST00000292779	T	0.11821	2.74	4.06	-1.84	0.07809	.	0.477306	0.17820	N	0.160896	T	0.03263	0.0095	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.31724	-0.9933	10	0.41790	T	0.15	-37.2121	0.0557	0.00013	0.3166:0.1986:0.1693:0.3155	.	268;268	B7Z7H5;Q8IYX3-2	.;.	H	268	ENSP00000292779:R268H	ENSP00000292779:R268H	R	+	2	0	CCDC116	20319155	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	0.475000	0.22164	-0.289000	0.09038	-2.709000	0.00134	CGC		0.602	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		35	145	0	0	0	1	0	35	145				
GPR20	2843	broad.mit.edu	37	8	142367229	142367229	+	Silent	SNP	C	C	T	rs372583253		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:142367229C>T	ENST00000377741.3	-	2	885	c.795G>A	c.(793-795)gcG>gcA	p.A265A	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	265					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGGCCACAGCGCCACGGCCA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		18390	0.0		0.0	False		,,,				2504	0.001					ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(793-795)gcG>gcA		G protein-coupled receptor 20		C		0,4402		0,0,2201	46.0	36.0	39.0		795	-7.1	0.9	8		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR20	NM_005293.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		265/359	142367229	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367229C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.795G>A	8.37:g.142367229C>T							p.A265A	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	885	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		265					Q17R96	Silent	SNP	ENST00000377741.3	37	c.795G>A	CCDS34949.1																																																																																				0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		4	50	0	0	0	1	0	4	50				
VWF	7450	broad.mit.edu	37	12	6219670	6219670	+	Silent	SNP	A	A	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:6219670A>G	ENST00000261405.5	-	5	656	c.402T>C	c.(400-402)taT>taC	p.Y134Y	VWF_ENST00000572068.1_Silent_p.Y171Y	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	134	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACAAAGCCATAGGCCTCAC	0.527																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(400-402)taT>taC		von Willebrand factor	Antihemophilic Factor(DB00025)						120.0	124.0	122.0					12																	6219670		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6219670A>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.402T>C	12.37:g.6219670A>G						VWF_ENST00000572068.1_Silent_p.Y171Y	p.Y134Y	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			5	656	-			134			VWFD 1.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.402T>C	CCDS8539.1																																																																																				0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		34	124	0	0	0	1	0	34	124				
MPHOSPH8	54737	broad.mit.edu	37	13	20220907	20220907	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:20220907A>G	ENST00000361479.5	+	3	762	c.694A>G	c.(694-696)Aag>Gag	p.K232E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K232E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	232	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		gaaagttaaaaagggtgaaat	0.303																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(694-696)Aag>Gag		M-phase phosphoprotein 8							19.0	21.0	20.0					13																	20220907		2140	4264	6404	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220907A>G	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.694A>G	13.37:g.20220907A>G	ENSP00000355388:p.Lys232Glu					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K232E	p.K232E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	762	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	232			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.694A>G	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401508	0.42613	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.39229	1.09;1.09	6.02	4.81	0.61882	.	1.642090	0.02677	N	0.109180	T	0.46908	0.1417	L	0.55481	1.735	0.25163	N	0.990331	P;P;P	0.52316	0.799;0.873;0.952	B;B;B	0.43360	0.162;0.306;0.417	T	0.34279	-0.9835	10	0.45353	T	0.12	.	10.1602	0.42847	0.8324:0.1676:0.0:0.0	.	232;232;232	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	E	232	ENSP00000414663:K232E;ENSP00000355388:K232E	ENSP00000355388:K232E	K	+	1	0	MPHOSPH8	19118907	1.000000	0.71417	0.715000	0.30552	0.900000	0.52787	5.566000	0.67372	1.064000	0.40671	0.528000	0.53228	AAG		0.303	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		13	30	0	0	0	1	0	13	30				
DCHS2	54798	broad.mit.edu	37	4	155254404	155254404	+	Missense_Mutation	SNP	T	T	G	rs150770753		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:155254404T>G	ENST00000357232.4	-	9	1458	c.1459A>C	c.(1459-1461)Att>Ctt	p.I487L	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.I986L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	487	Cadherin 4. {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)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATATTCTAATCTCATCCGAG	0.597																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1459-1461)Att>Ctt		dachsous cadherin-related 2							104.0	92.0	96.0					4																	155254404		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254404T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1459A>C	4.37:g.155254404T>G	ENSP00000349768:p.Ile487Leu					DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.I986L	p.I487L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1458	-	all_hematologic(180;0.208)	Renal(120;0.0854)	487			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1459A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453290	0.43531	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.54279	0.58;0.58	5.63	-2.49	0.06403	Cadherin (3);Cadherin-like (1);	0.580414	0.14753	N	0.300460	T	0.42810	0.1219	L	0.46741	1.465	0.49130	D	0.999758	P;B	0.43231	0.801;0.267	B;B	0.43889	0.435;0.116	T	0.42982	-0.9419	10	0.54805	T	0.06	.	6.7552	0.23510	0.0:0.2693:0.2183:0.5123	.	986;487	E9PC11;Q6V1P9	.;PCD23_HUMAN	L	487;986;986	ENSP00000349768:I487L;ENSP00000345062:I986L	ENSP00000345062:I986L	I	-	1	0	DCHS2	155473854	0.000000	0.05858	0.040000	0.18447	0.022000	0.10575	-0.255000	0.08769	-0.092000	0.12417	0.460000	0.39030	ATT		0.597	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		23	85	0	0	0	1	0	23	85				
TMUB2	79089	broad.mit.edu	37	17	42268085	42268085	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42268085C>T	ENST00000587989.1	+	4	972	c.819C>T	c.(817-819)ctC>ctT	p.L273L	TMUB2_ENST00000589785.1_Silent_p.L253L|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Silent_p.L253L|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000319511.6_Silent_p.L253L|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000538716.2_Silent_p.L273L|TMUB2_ENST00000446571.3_Silent_p.L216L|TMUB2_ENST00000587172.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	273						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGGCAGCCTCATGGTGCCTG	0.617																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(757-759)ctC>ctT		transmembrane and ubiquitin-like domain containing 2							134.0	111.0	119.0					17																	42268085		2203	4300	6503	SO:0001819	synonymous_variant	79089					integral to membrane		g.chr17:42268085C>T		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.819C>T	17.37:g.42268085C>T						TMUB2_ENST00000538716.2_Silent_p.L273L|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000587989.1_Silent_p.L273L|TMUB2_ENST00000446571.3_Silent_p.L216L|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Silent_p.L253L|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Silent_p.L253L	p.L253L	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1409	+		Breast(137;0.00765)|Prostate(33;0.0181)	273					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	c.759C>T	CCDS54134.1																																																																																				0.617	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		45	134	0	0	0	1	0	45	134				
WDR70	55100	broad.mit.edu	37	5	37605166	37605166	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:37605166G>T	ENST00000265107.4	+	10	1074	c.918G>T	c.(916-918)gcG>gcT	p.A306A	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Splice_Site_p.A306A	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	306							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCATTTTTAGGACTGTGAGGA	0.388																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e10-1		WD repeat domain 70							45.0	42.0	43.0					5																	37605166		2203	4300	6503	SO:0001630	splice_region_variant	55100							g.chr5:37605166G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.918-1G>T	5.37:g.37605166G>T						WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Splice_Site_p.A306_splice	p.A306_splice	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1074	+	all_lung(31;0.000285)		306					Q9H053	Splice_Site	SNP	ENST00000265107.4	37	c.917_splice	CCDS34147.1																																																																																				0.388	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034	Silent	9	20	1	0	3.09899e-07	1	3.22913e-07	9	20				
USP37	57695	broad.mit.edu	37	2	219346853	219346853	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:219346853G>A	ENST00000258399.3	-	17	2187	c.1775C>T	c.(1774-1776)tCt>tTt	p.S592F	USP37_ENST00000475553.1_5'UTR|USP37_ENST00000418019.1_Missense_Mutation_p.S592F|USP37_ENST00000454775.1_Missense_Mutation_p.S592F|USP37_ENST00000415516.1_Missense_Mutation_p.S520F	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	592	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AGTGCAATGAGATGACAGGGT	0.403																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1774-1776)tCt>tTt		ubiquitin specific peptidase 37							177.0	164.0	169.0					2																	219346853		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219346853G>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1775C>T	2.37:g.219346853G>A	ENSP00000258399:p.Ser592Phe					USP37_ENST00000418019.1_Missense_Mutation_p.S592F|USP37_ENST00000454775.1_Missense_Mutation_p.S592F|USP37_ENST00000415516.1_Missense_Mutation_p.S520F|USP37_ENST00000475553.1_5'UTR	p.S592F	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	17	2187	-		Renal(207;0.0915)	592					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1775C>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395706	0.96009	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.69	5.69	0.88448	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.75085	2.285	0.80722	D	1	P;P	0.51147	0.942;0.906	B;B	0.43445	0.337;0.42	T	0.55354	-0.8154	10	0.87932	D	0	-14.4445	19.8211	0.96595	0.0:0.0:1.0:0.0	.	520;592	Q86T82-2;Q86T82	.;UBP37_HUMAN	F	592;592;520;592	ENSP00000258399:S592F;ENSP00000393662:S592F;ENSP00000400902:S520F;ENSP00000396585:S592F	ENSP00000258399:S592F	S	-	2	0	USP37	219055097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.819000	0.99357	2.687000	0.91594	0.655000	0.94253	TCT		0.403	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		39	65	0	0	0	1	0	39	65				
DNAJC21	134218	broad.mit.edu	37	5	34945895	34945895	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:34945895A>T	ENST00000342382.4	+	9	1399	c.1172A>T	c.(1171-1173)cAg>cTg	p.Q391L	DNAJC21_ENST00000382021.2_Missense_Mutation_p.Q391L|DNAJC21_ENST00000303525.7_Missense_Mutation_p.Q404L|DNAJC21_ENST00000512136.1_3'UTR			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	391	Poly-Lys.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAAAAGAAACAGAAACCAGCA	0.318																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1171-1173)cAg>cTg		DnaJ (Hsp40) homolog, subfamily C, member 21							112.0	126.0	121.0					5																	34945895		2202	4293	6495	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34945895A>T		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1172A>T	5.37:g.34945895A>T	ENSP00000343728:p.Gln391Leu					DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000342382.4_Missense_Mutation_p.Q391L|DNAJC21_ENST00000303525.7_Missense_Mutation_p.Q404L	p.Q391L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		9	1399	+	all_lung(31;7.08e-05)		391			Poly-Lys.		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1172A>T	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798763	0.70567	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.47869	0.86;0.88;0.83	5.87	5.87	0.94306	.	0.181068	0.64402	D	0.000018	T	0.45155	0.1328	L	0.56769	1.78	0.58432	D	0.999999	P;B;B	0.41848	0.763;0.321;0.372	B;B;B	0.39027	0.288;0.136;0.083	T	0.37314	-0.9711	10	0.26408	T	0.33	-10.2607	14.5226	0.67863	1.0:0.0:0.0:0.0	.	404;391;391	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	L	391;391;404	ENSP00000343728:Q391L;ENSP00000371451:Q391L;ENSP00000306289:Q404L	ENSP00000306289:Q404L	Q	+	2	0	DNAJC21	34981652	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.225000	0.58600	2.371000	0.80710	0.533000	0.62120	CAG		0.318	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		23	101	0	0	0	1	0	23	101				
CATSPERD	257062	broad.mit.edu	37	19	5776180	5776180	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:5776180G>A	ENST00000381624.3	+	21	2011	c.1950G>A	c.(1948-1950)gtG>gtA	p.V650V	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	650					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AGAACTATGTGAGCTGCCACG	0.632																																						ENST00000381624.3																			0											c.(1948-1950)gtG>gtA		catsper channel auxiliary subunit delta							78.0	82.0	81.0					19																	5776180		1959	4127	6086	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5776180G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1950G>A	19.37:g.5776180G>A						CATSPERD_ENST00000309164.7_3'UTR	p.V650V	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			21	2011	+			650					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1950G>A	CCDS12149.2																																																																																				0.632	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		30	64	0	0	0	1	0	30	64				
SLX4	84464	broad.mit.edu	37	16	3639432	3639432	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:3639432C>G	ENST00000294008.3	-	12	4847	c.4207G>C	c.(4207-4209)Gag>Cag	p.E1403Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1403	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGGCCACCTCCTGCTCATCG	0.617								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4207-4209)Gag>Cag	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							61.0	64.0	63.0					16																	3639432		2182	4282	6464	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639432C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4207G>C	16.37:g.3639432C>G	ENSP00000294008:p.Glu1403Gln						p.E1403Q	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4847	-			1403			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.4207G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148180	0.57151	.	.	ENSG00000188827	ENST00000294008	T	0.01981	4.52	5.68	5.68	0.88126	.	0.441204	0.22804	N	0.055427	T	0.10078	0.0247	M	0.69823	2.125	0.31873	N	0.619497	D	0.71674	0.998	P	0.59115	0.852	T	0.00422	-1.1749	10	0.45353	T	0.12	.	16.864	0.86025	0.0:1.0:0.0:0.0	.	1403	Q8IY92	SLX4_HUMAN	Q	1403	ENSP00000294008:E1403Q	ENSP00000294008:E1403Q	E	-	1	0	SLX4	3579433	0.972000	0.33761	0.982000	0.44146	0.480000	0.33159	2.789000	0.47813	2.834000	0.97654	0.655000	0.94253	GAG		0.617	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		7	192	0	0	0	1	0	7	192				
CNTNAP3	79937	broad.mit.edu	37	9	39133006	39133006	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:39133006G>A	ENST00000297668.6	-	13	2076	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S667F|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S574F|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S580F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S667F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	668	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTCACCGCGGACCGCAGCTG	0.761																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2002-2004)tCc>tTc		contactin associated protein-like 3							3.0	3.0	3.0					9																	39133006		1045	2311	3356	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133006G>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2003C>T	9.37:g.39133006G>A	ENSP00000297668:p.Ser668Phe					CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S667F|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S574F|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S667F|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S580F	p.S668F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	2076	-			668			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.2003C>T	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676306	0.47886	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	2.48	2.48	0.30137	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.08846	0.0219	L	0.29908	0.895	0.26037	N	0.98165	B;P;P;B	0.44195	0.002;0.526;0.828;0.127	B;B;B;B	0.39299	0.007;0.269;0.296;0.112	T	0.18903	-1.0322	9	0.72032	D	0.01	.	10.1614	0.42853	0.0:0.0:1.0:0.0	.	574;668;667;668	E2QRH2;Q9BZ76-2;A6NC89;Q9BZ76	.;.;.;CNTP3_HUMAN	F	668;667;580;574;667	ENSP00000297668:S668F;ENSP00000366884:S667F;ENSP00000350863:S580F;ENSP00000320728:S574F;ENSP00000366887:S667F	ENSP00000297668:S668F	S	-	2	0	CNTNAP3	39123006	0.904000	0.30761	0.005000	0.12908	0.096000	0.18686	6.014000	0.70784	1.426000	0.47256	0.454000	0.30748	TCC		0.761	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		6	9	0	0	0	1	0	6	9				
C6orf89	221477	broad.mit.edu	37	6	36867326	36867326	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:36867326G>A	ENST00000480824.2	+	3	400	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	C6orf89_ENST00000355190.3_Missense_Mutation_p.E43K|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.E36K			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	36					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E43*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GAAGGCAATTGAAAAATTTAT	0.443																																						ENST00000480824.2																			1	Substitution - Nonsense(1)	p.E43*(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(106-108)Gaa>Aaa		chromosome 6 open reading frame 89							79.0	84.0	82.0					6																	36867326		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36867326G>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.106G>A	6.37:g.36867326G>A	ENSP00000475947:p.Glu36Lys					C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.E36K|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.E43K	p.E36K			Q6UWU4	CF089_HUMAN			3	400	+			36					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.106G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.613855	0.96637	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	T;T	0.55052	0.54;0.54	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.67658	-0.5614	10	0.87932	D	0	-13.8546	18.844	0.92196	0.0:0.0:1.0:0.0	.	36;43	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	K	43;36;43;42	ENSP00000347322:E43K;ENSP00000362789:E36K	ENSP00000347322:E43K	E	+	1	0	C6orf89	36975304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.293000	0.89932	2.894000	0.99253	0.655000	0.94253	GAA		0.443	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		23	75	0	0	0	1	0	23	75				
ZDHHC8	29801	broad.mit.edu	37	22	20132802	20132802	+	Missense_Mutation	SNP	C	C	T	rs371176969		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:20132802C>T	ENST00000334554.7	+	11	2318	c.2177C>T	c.(2176-2178)cCg>cTg	p.P726L	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P634L|ZDHHC8_ENST00000405930.3_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	726					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGGCAGTCCCCGGGCCTGGCC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		13770	0.0		0.0	False		,,,				2504	0.001					ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(2176-2178)cCg>cTg		zinc finger, DHHC-type containing 8		C	,LEU/PRO	1,4405		0,1,2202	91.0	102.0	98.0		,2177	2.6	0.9	22	dbSNP_134	98	0,8596		0,0,4298	no	intron,missense	ZDHHC8	NM_001185024.1,NM_013373.3	,98	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,benign	,726/766	20132802	1,13001	2203	4298	6501	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20132802C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2177C>T	22.37:g.20132802C>T	ENSP00000334490:p.Pro726Leu					ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P634L|ZDHHC8_ENST00000405930.3_Intron	p.P726L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			11	2318	+	Colorectal(54;0.0993)		726					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.2177C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755687	0.49362	2.27E-4	0.0	ENSG00000099904	ENST00000334554;ENST00000320602	T;T	0.71698	1.41;-0.59	5.06	2.63	0.31362	.	4.859350	0.00481	N	0.000126	T	0.80859	0.4704	L	0.51422	1.61	0.80722	D	1	D;B	0.89917	1.0;0.001	D;B	0.97110	1.0;0.0	T	0.69533	-0.5120	10	0.72032	D	0.01	.	6.5513	0.22436	0.3683:0.5364:0.0:0.0953	.	634;726	Q9ULC8-2;Q9ULC8	.;ZDHC8_HUMAN	L	726;634	ENSP00000334490:P726L;ENSP00000317804:P634L	ENSP00000317804:P634L	P	+	2	0	ZDHHC8	18512802	0.973000	0.33851	0.912000	0.35992	0.986000	0.74619	2.078000	0.41567	1.268000	0.44264	0.551000	0.68910	CCG		0.632	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		68	258	0	0	0	1	0	68	258				
SLC7A4	6545	broad.mit.edu	37	22	21385560	21385560	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:21385560G>C	ENST00000382932.2	-	2	609	c.542C>G	c.(541-543)tCt>tGt	p.S181C	SLC7A4_ENST00000403586.1_Missense_Mutation_p.S181C|MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	181				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). {ECO:0000305}.	basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACAAAGGCAGAGGCCAGGAG	0.597																																						ENST00000382932.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(541-543)tCt>tGt		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						50.0	48.0	48.0					22																	21385560		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385560G>C	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.542C>G	22.37:g.21385560G>C	ENSP00000372390:p.Ser181Cys					SLC7A4_ENST00000403586.1_Missense_Mutation_p.S181C	p.S181C	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	609	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	181	THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).				Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.542C>G	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259871	0.59321	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89485	-2.52;-2.52	5.28	5.28	0.74379	Amino acid permease domain (1);	0.277657	0.35525	N	0.003144	D	0.92799	0.7710	M	0.64630	1.985	0.43787	D	0.996322	D	0.56035	0.974	P	0.61874	0.895	D	0.93074	0.6485	10	0.62326	D	0.03	.	16.7863	0.85575	0.0:0.0:1.0:0.0	.	181	O43246	CTR4_HUMAN	C	181	ENSP00000384278:S181C;ENSP00000372390:S181C	ENSP00000372390:S181C	S	-	2	0	SLC7A4	19715560	1.000000	0.71417	0.863000	0.33907	0.987000	0.75469	7.433000	0.80362	2.626000	0.88956	0.561000	0.74099	TCT		0.597	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		26	44	0	0	0	1	0	26	44				
TMUB2	79089	broad.mit.edu	37	17	42268014	42268014	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42268014C>T	ENST00000587989.1	+	4	901	c.748C>T	c.(748-750)Cca>Tca	p.P250S	TMUB2_ENST00000589785.1_Missense_Mutation_p.P230S|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.P230S|TMUB2_ENST00000589184.1_Missense_Mutation_p.S64F|TMUB2_ENST00000319511.6_Missense_Mutation_p.P230S|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.P250S|TMUB2_ENST00000446571.3_Missense_Mutation_p.P193S|TMUB2_ENST00000587172.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	250						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTCAGCTGTTCCAGGCCCCTC	0.627																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(688-690)Cca>Tca		transmembrane and ubiquitin-like domain containing 2							89.0	79.0	82.0					17																	42268014		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268014C>T		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.748C>T	17.37:g.42268014C>T	ENSP00000466971:p.Pro250Ser					TMUB2_ENST00000538716.2_Missense_Mutation_p.P250S|TMUB2_ENST00000589184.1_Missense_Mutation_p.S64F|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.P250S|TMUB2_ENST00000446571.3_Missense_Mutation_p.P193S|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.P230S|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.P230S	p.P230S	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1338	+		Breast(137;0.00765)|Prostate(33;0.0181)	250			Ubiquitin-like.		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.688C>T	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.185281	0.01620	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.77	-2.12	0.07165	.	0.364528	0.30911	N	0.008640	T	0.07188	0.0182	N	0.00347	-1.61	0.27082	N	0.963064	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.10450	0.001;0.002;0.005	T	0.36962	-0.9726	10	0.05620	T	0.96	-15.1009	3.6588	0.08230	0.1091:0.3888:0.3238:0.1783	.	193;230;250	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	S	193;230;250;230	ENSP00000413127:P193S;ENSP00000350672:P230S;ENSP00000444565:P250S;ENSP00000313214:P230S	ENSP00000313214:P230S	P	+	1	0	TMUB2	39623540	0.002000	0.14202	0.069000	0.20011	0.518000	0.34316	0.220000	0.17660	-0.155000	0.11098	-0.264000	0.10439	CCA		0.627	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		35	98	0	0	0	1	0	35	98				
FAM179A	165186	broad.mit.edu	37	2	29259409	29259409	+	Silent	SNP	C	C	T	rs141848946	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:29259409C>T	ENST00000379558.4	+	18	2772	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.V752V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	807										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCAATAGGTCTTTGATGCTT	0.557													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18036	0.0		0.0	False		,,,				2504	0.001					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2419-2421)gtC>gtT		family with sequence similarity 179, member A		C		1,4405	2.1+/-5.4	0,1,2202	86.0	76.0	79.0		2421	6.0	1.0	2	dbSNP_134	79	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	FAM179A	NM_199280.2		0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153		807/1020	29259409	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	165186						binding	g.chr2:29259409C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2421C>T	2.37:g.29259409C>T						FAM179A_ENST00000403861.2_Silent_p.V752V|FAM179A_ENST00000465300.1_3'UTR	p.V807V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			18	2772	+			807					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2421C>T	CCDS1769.2																																																																																				0.557	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		22	62	0	0	0	1	0	22	62				
RIOK2	55781	broad.mit.edu	37	5	96518836	96518836	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:96518836C>G	ENST00000283109.3	-	1	128	c.60G>C	c.(58-60)ttG>ttC	p.L20F	RIOK2_ENST00000508447.1_Missense_Mutation_p.L20F|RP11-155G15.2_ENST00000504578.1_RNA|CTD-2215E18.1_ENST00000509481.1_Missense_Mutation_p.Q53E	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	20							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTACCGCGGTCAAGACCCTGA	0.562																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(58-60)ttG>ttC		RIO kinase 2							186.0	182.0	183.0					5																	96518836		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96518836C>G	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.60G>C	5.37:g.96518836C>G	ENSP00000283109:p.Leu20Phe					RIOK2_ENST00000508447.1_Missense_Mutation_p.L20F|CTD-2215E18.1_ENST00000509481.1_Missense_Mutation_p.Q53E	p.L20F	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	1	128	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	20					D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.60G>C	CCDS4089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.256033|3.256033	0.59321|0.59321	.|.	.|.	ENSG00000058729|ENSG00000251606	ENST00000283109;ENST00000508447|ENST00000509481	T;T|.	0.17854|.	2.26;2.25|.	5.21|5.21	3.41|3.41	0.39046|0.39046	Winged helix-turn-helix transcription repressor DNA-binding (1);RIO2 kinase, winged helix, N-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.77458|0.77458	0.4133|0.4133	H|H	0.95079|0.95079	3.62|3.62	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75991|0.75991	-0.3122|-0.3122	10|6	0.87932|0.87932	D|D	0|0	-2.3009|-2.3009	1.6523|1.6523	0.02774|0.02774	0.1929:0.4574:0.1872:0.1625|0.1929:0.4574:0.1872:0.1625	.|.	20;20|.	D6RDI3;Q9BVS4|.	.;RIOK2_HUMAN|.	F|E	20|53	ENSP00000283109:L20F;ENSP00000420932:L20F|.	ENSP00000283109:L20F|ENSP00000424860:Q53E	L|Q	-|+	3|1	2|0	RIOK2|CTD-2215E18.1	96544592|96544592	0.904000|0.904000	0.30761|0.30761	0.917000|0.917000	0.36280|0.36280	0.620000|0.620000	0.37586|0.37586	-0.052000|-0.052000	0.11865|0.11865	0.764000|0.764000	0.33197|0.33197	0.655000|0.655000	0.94253|0.94253	TTG|CAA		0.562	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		43	164	0	0	0	1	0	43	164				
MUC17	140453	broad.mit.edu	37	7	100685698	100685698	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100685698C>T	ENST00000306151.4	+	3	11065	c.11001C>T	c.(10999-11001)atC>atT	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGATCACTTCTACCC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10999-11001)atC>atT		mucin 17, cell surface associated							202.0	179.0	187.0					7																	100685698		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685698C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11001C>T	7.37:g.100685698C>T							p.I3667I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11065	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3667			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.11001C>T	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	313	0	0	0	1	0	9	313				
ZNF689	115509	broad.mit.edu	37	16	30615770	30615770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:30615770G>A	ENST00000287461.3	-	3	1655	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'Flank	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	440					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TGGCTCCACTGAGCAAAACGC	0.677																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1318-1320)Cag>Tag		zinc finger protein 689							29.0	23.0	25.0					16																	30615770		2197	4300	6497	SO:0001587	stop_gained	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30615770G>A	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.1318C>T	16.37:g.30615770G>A	ENSP00000287461:p.Gln440*					RP11-146F11.5_ENST00000563540.1_RNA	p.Q440*	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	1655	-			440					Q658J5	Nonsense_Mutation	SNP	ENST00000287461.3	37	c.1318C>T	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	18.74	3.689527	0.68271	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	.	.	.	4.52	4.52	0.55395	.	0.000000	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-26.4819	15.6202	0.76799	0.0:0.0:1.0:0.0	.	.	.	.	X	440	.	ENSP00000287461:Q440X	Q	-	1	0	ZNF689	30523271	0.000000	0.05858	1.000000	0.80357	0.102000	0.19082	0.126000	0.15769	2.816000	0.96949	0.644000	0.83932	CAG		0.677	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		5	17	0	0	0	1	0	5	17				
FBXO27	126433	broad.mit.edu	37	19	39517588	39517588	+	Silent	SNP	G	G	A	rs552069426		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:39517588G>A	ENST00000292853.4	-	5	749	c.630C>T	c.(628-630)gaC>gaT	p.D210D	FBXO27_ENST00000509137.2_Silent_p.D210D|FBXO27_ENST00000600828.1_Silent_p.D209D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	210	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTGGTTGGCGTCTAGAAGTT	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		17717	0.001		0.0	False		,,,				2504	0.0					ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(628-630)gaC>gaT		F-box protein 27							187.0	173.0	178.0					19																	39517588		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517588G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.630C>T	19.37:g.39517588G>A						FBXO27_ENST00000600828.1_Silent_p.D209D|FBXO27_ENST00000509137.2_Silent_p.D210D	p.D210D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	749	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		210			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.630C>T	CCDS12527.1																																																																																				0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			69	150	0	0	0	1	0	69	150				
UNC5B	219699	broad.mit.edu	37	10	73039771	73039771	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:73039771C>T	ENST00000335350.6	+	2	689	c.273C>T	c.(271-273)caC>caT	p.H91H	UNC5B_ENST00000373192.4_Silent_p.H91H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	91	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGAACGACCACGTCACACAGG	0.642																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(271-273)caC>caT		unc-5 homolog B (C. elegans)							74.0	73.0	74.0					10																	73039771		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73039771C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.273C>T	10.37:g.73039771C>T						UNC5B_ENST00000373192.4_Silent_p.H91H	p.H91H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			2	689	+			91			Ig-like.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.273C>T	CCDS7309.1																																																																																				0.642	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		39	117	0	0	0	1	0	39	117				
JAG1	182	broad.mit.edu	37	20	10625900	10625900	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:10625900G>A	ENST00000254958.5	-	17	2633	c.2118C>T	c.(2116-2118)gaC>gaT	p.D706D	JAG1_ENST00000423891.2_Silent_p.D547D|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	706	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACACTGACTGTCACCTGGAG	0.547									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2116-2118)gaC>gaT		jagged 1							116.0	100.0	105.0					20																	10625900		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10625900G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2118C>T	20.37:g.10625900G>A						JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.D547D	p.D706D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			17	2633	-			706			EGF-like 13.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2118C>T	CCDS13112.1																																																																																				0.547	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		17	65	0	0	0	1	0	17	65				
AHI1	54806	broad.mit.edu	37	6	135639718	135639718	+	Missense_Mutation	SNP	C	C	T	rs372888581		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:135639718C>T	ENST00000367800.4	-	24	3581	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	AHI1_ENST00000417892.2_Missense_Mutation_p.R476Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R1122Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1122					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGGAGGGGATCGCTCCTTTAT	0.388																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(3364-3366)cGa>cAa		Abelson helper integration site 1		C	GLN/ARG,GLN/ARG,GLN/ARG	0,3650		0,0,1825	52.0	47.0	48.0		3365,3365,3365	5.2	1.0	6		48	1,8165		0,1,4082	no	missense,missense,missense	AHI1	NM_001134830.1,NM_001134831.1,NM_017651.4	43,43,43	0,1,5907	TT,TC,CC		0.0122,0.0,0.0085	probably-damaging,probably-damaging,probably-damaging	1122/1197,1122/1197,1122/1197	135639718	1,11815	1825	4083	5908	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135639718C>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3365G>A	6.37:g.135639718C>T	ENSP00000356774:p.Arg1122Gln					AHI1_ENST00000417892.2_Missense_Mutation_p.R476Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R1122Q	p.R1122Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	24	3581	-	Breast(56;0.239)|Colorectal(23;0.24)		1122					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.3365G>A	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.48|19.48	3.836465|3.836465	0.71373|0.71373	0.0|0.0	1.22E-4|1.22E-4	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602	.|T;T;T;T	.|0.61510	.|0.35;0.35;0.1;0.35	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.419618	.|0.22031	.|N	.|0.065581	T|T	0.53029|0.53029	0.1771|0.1771	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.997	.|P;P	.|0.61275	.|0.886;0.788	T|T	0.44128|0.44128	-0.9348|-0.9348	5|10	.|0.30854	.|T	.|0.27	-10.7848|-10.7848	14.4661|14.4661	0.67485|0.67485	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1122;1122	.|Q8N157;Q4FD35	.|AHI1_HUMAN;.	N|Q	622|1122;1122;476;1122	.|ENSP00000356774:R1122Q;ENSP00000388650:R1122Q;ENSP00000416867:R476Q;ENSP00000265602:R1122Q	.|ENSP00000265602:R1122Q	D|R	-|-	1|2	0|0	AHI1|AHI1	135681411|135681411	0.966000|0.966000	0.33281|0.33281	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	2.130000|2.130000	0.42064|0.42064	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAT|CGA		0.388	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		3	4	0	0	0	1	0	3	4				
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	CAATGCATTTCCTGGAGAATA	0.353																																						ENST00000348035.4																			1	Substitution - Missense(1)	p.P29S(1)	upper_aerodigestive_tract(1)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(85-87)Cct>Tct		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						112.0	111.0	111.0					7																	6426892		2203	4297	6500	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6426892C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.85C>T	7.37:g.6426892C>T	ENSP00000258737:p.Pro29Ser					RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	2	298	+		Ovarian(82;0.0776)	29					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.85C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345194	0.95807	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.76186	-1.0;-1.0	6.05	6.05	0.98169	Small GTP-binding protein domain (1);	0.049770	0.85682	D	0.000000	D	0.83069	0.5174	L	0.56340	1.77	0.80722	D	1	P;P	0.50528	0.811;0.936	P;P	0.58820	0.763;0.846	T	0.83092	-0.0132	10	0.87932	D	0	.	20.2117	0.98287	0.0:1.0:0.0:0.0	.	29;29	P63000;A4D2P0	RAC1_HUMAN;.	S	29	ENSP00000258737:P29S;ENSP00000348461:P29S	ENSP00000258737:P29S	P	+	1	0	RAC1	6393417	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.622000	0.83099	2.878000	0.98634	0.650000	0.86243	CCT		0.353	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		10	45	0	0	0	1	0	10	45				
AMBRA1	55626	broad.mit.edu	37	11	46567252	46567252	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:46567252G>C	ENST00000458649.2	-	5	871	c.453C>G	c.(451-453)ctC>ctG	p.L151L	AMBRA1_ENST00000528950.1_Silent_p.L151L|AMBRA1_ENST00000298834.3_Silent_p.L151L|AMBRA1_ENST00000533727.1_Silent_p.L151L|AMBRA1_ENST00000314845.3_Silent_p.L151L|AMBRA1_ENST00000534300.1_Silent_p.L151L|AMBRA1_ENST00000426438.1_Silent_p.L151L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	151					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CAATCAGCAGGAGCTGAGCCG	0.532																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(451-453)ctC>ctG		autophagy/beclin-1 regulator 1							110.0	92.0	98.0					11																	46567252		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46567252G>C	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.453C>G	11.37:g.46567252G>C						AMBRA1_ENST00000426438.1_Silent_p.L151L|AMBRA1_ENST00000528950.1_Silent_p.L151L|AMBRA1_ENST00000534300.1_Silent_p.L151L|AMBRA1_ENST00000533727.1_Silent_p.L151L|AMBRA1_ENST00000314845.3_Silent_p.L151L|AMBRA1_ENST00000298834.3_Silent_p.L151L	p.L151L			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	5	871	-			151					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.453C>G																																																																																					0.532	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		19	64	0	0	0	1	0	19	64				
ADNP2	22850	broad.mit.edu	37	18	77895275	77895275	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:77895275C>T	ENST00000262198.4	+	4	2434	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	660					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCCGGCATGCCCTCTCCTCCA	0.632																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1978-1980)cCc>cTc		ADNP homeobox 2							82.0	71.0	75.0					18																	77895275		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895275C>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1979C>T	18.37:g.77895275C>T	ENSP00000262198:p.Pro660Leu						p.P660L	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2434	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	660					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1979C>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921705	0.52653	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000003	T	0.64271	0.2583	L	0.54323	1.7	0.58432	D	0.999999	D	0.55172	0.97	P	0.51657	0.676	T	0.64158	-0.6473	8	.	.	.	-13.9598	17.9827	0.89146	0.0:1.0:0.0:0.0	.	660	Q6IQ32	ADNP2_HUMAN	L	660	.	.	P	+	2	0	ADNP2	75996266	0.993000	0.37304	0.757000	0.31301	0.116000	0.19942	4.504000	0.60414	2.490000	0.84030	0.585000	0.79938	CCC		0.632	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		33	62	0	0	0	1	0	33	62				
BSDC1	55108	broad.mit.edu	37	1	32843848	32843848	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:32843848G>A	ENST00000455895.2	-	7	598	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	BSDC1_ENST00000419121.2_Missense_Mutation_p.R133W|BSDC1_ENST00000449308.1_Missense_Mutation_p.R189W|BSDC1_ENST00000341071.7_Missense_Mutation_p.R206W|BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000526031.1_Missense_Mutation_p.R94W|BSDC1_ENST00000446293.2_Missense_Mutation_p.R206W	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	189	BSD. {ECO:0000255|PROSITE- ProRule:PRU00036}.							p.R206W(1)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TAGAAATACCGATGCCAGAAT	0.522																																						ENST00000341071.7																			1	Substitution - Missense(1)	p.R206W(1)	breast(1)	breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(616-618)Cgg>Tgg		BSD domain containing 1							69.0	70.0	69.0					1																	32843848		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32843848G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.565C>T	1.37:g.32843848G>A	ENSP00000412173:p.Arg189Trp					BSDC1_ENST00000419121.2_Missense_Mutation_p.R133W|BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000449308.1_Missense_Mutation_p.R189W|BSDC1_ENST00000446293.2_Missense_Mutation_p.R206W|BSDC1_ENST00000526031.1_Missense_Mutation_p.R94W|BSDC1_ENST00000455895.2_Missense_Mutation_p.R189W	p.R206W			Q9NW68	BSDC1_HUMAN			7	627	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	189					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.616C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472109	0.84533	.	.	ENSG00000160058	ENST00000455895;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308;ENST00000527163;ENST00000530485	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.85	5.85	0.93711	BSD (3);	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0	D	0.84305	0.0507	10	0.87932	D	0	-18.1666	14.3821	0.66919	0.0:0.0:0.8524:0.1476	.	94;133;206;206;189	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	W	189;206;94;133;206;189;123;150	ENSP00000412173:R189W;ENSP00000344816:R206W;ENSP00000432382:R94W;ENSP00000405752:R133W;ENSP00000397759:R206W;ENSP00000391762:R189W;ENSP00000432524:R123W;ENSP00000435888:R150W	ENSP00000344816:R206W	R	-	1	2	BSDC1	32616435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.494000	0.53273	2.941000	0.99782	0.655000	0.94253	CGG		0.522	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		15	61	0	0	0	1	0	15	61				
HAPLN1	1404	broad.mit.edu	37	5	82969304	82969304	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:82969304G>A	ENST00000274341.4	-	2	889	c.39C>T	c.(37-39)tgC>tgT	p.C13C	HAPLN1_ENST00000514416.1_Silent_p.C13C	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	13					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GATCAGCCCAGCAGATTGAAA	0.403																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(37-39)tgC>tgT		hyaluronan and proteoglycan link protein 1							171.0	170.0	170.0					5																	82969304		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82969304G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.39C>T	5.37:g.82969304G>A						HAPLN1_ENST00000514416.1_Silent_p.C13C	p.C13C	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	889	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	13					B2R9A9	Silent	SNP	ENST00000274341.4	37	c.39C>T	CCDS4061.1																																																																																				0.403	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		36	61	0	0	0	1	0	36	61				
NECAB2	54550	broad.mit.edu	37	16	84030833	84030833	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:84030833G>T	ENST00000305202.4	+	9	825	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	NECAB2_ENST00000565691.1_Missense_Mutation_p.D187Y|NECAB2_ENST00000567703.1_3'UTR	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	270						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						ACTGTGGTTCGACCTGCAGCA	0.617																																						ENST00000565691.1																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(559-561)Gac>Tac		N-terminal EF-hand calcium binding protein 2							182.0	135.0	151.0					16																	84030833		2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84030833G>T	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.808G>T	16.37:g.84030833G>T	ENSP00000307449:p.Asp270Tyr					NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000305202.4_Missense_Mutation_p.D270Y	p.D187Y			Q7Z6G3	NECA2_HUMAN			7	1281	+			270					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.559G>T	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586285	0.28268	.	.	ENSG00000103154	ENST00000305202	T	0.19806	2.12	4.46	3.49	0.39957	.	0.120230	0.53938	D	0.000048	T	0.42899	0.1223	M	0.71581	2.175	0.43234	D	0.995139	D	0.89917	1.0	D	0.91635	0.999	T	0.36286	-0.9754	10	0.72032	D	0.01	-9.9507	10.8553	0.46796	0.0:0.0:0.8108:0.1892	.	270	Q7Z6G3	NECA2_HUMAN	Y	270	ENSP00000307449:D270Y	ENSP00000307449:D270Y	D	+	1	0	NECAB2	82588334	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	6.362000	0.73077	1.056000	0.40484	-0.311000	0.09066	GAC		0.617	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		16	65	1	0	1.99824e-07	1	2.08763e-07	16	65				
CAMK2B	816	broad.mit.edu	37	7	44280308	44280308	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:44280308G>A	ENST00000395749.2	-	12	1020	c.944C>T	c.(943-945)tCa>tTa	p.S315L	CAMK2B_ENST00000258682.6_Missense_Mutation_p.S315L|CAMK2B_ENST00000502837.2_Missense_Mutation_p.S186L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000350811.3_Missense_Mutation_p.S315L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000457475.1_Missense_Mutation_p.S315L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.S315L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	315					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGCTCACCTGAGAAATTCCG	0.617																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(943-945)tCa>tTa		calcium/calmodulin-dependent protein kinase II beta							112.0	105.0	107.0					7																	44280308		2203	4300	6503	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44280308G>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.944C>T	7.37:g.44280308G>A	ENSP00000379098:p.Ser315Leu					CAMK2B_ENST00000350811.3_Missense_Mutation_p.S315L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000457475.1_Missense_Mutation_p.S315L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000502837.2_Missense_Mutation_p.S186L|CAMK2B_ENST00000258682.6_Missense_Mutation_p.S315L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.S315L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.S315L	p.S315L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			12	1020	-			315					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.944C>T	CCDS5483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433158|4.433158	0.83776|0.83776	.|.	.|.	ENSG00000058404|ENSG00000058404	ENST00000433930|ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747	.|T;T;T;T;T;T;T;T;T;T;T	.|0.69306	.|-0.31;-0.3;-0.39;0.4;-0.31;-0.33;-0.29;-0.33;0.88;-0.28;-0.3	3.55|3.55	3.55|3.55	0.40652|0.40652	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	.|T	.|0.79215	.|0.4408	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	.|P;B;P;P;D;P;D;D;B	.|0.76494	.|0.955;0.279;0.909;0.921;0.999;0.924;0.974;0.993;0.153	.|P;B;B;P;D;P;P;D;B	.|0.76071	.|0.74;0.317;0.342;0.569;0.987;0.554;0.584;0.987;0.036	.|T	.|0.82061	.|-0.0644	.|9	.|0.62326	.|D	.|0.03	.|.	14.9178|14.9178	0.70812|0.70812	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|315;315;315;315;315;315;315;315;315	.|Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.|.;.;.;.;.;.;.;KCC2B_HUMAN;.	X|L	72|315;315;315;186;315;315;315;315;315;315;315	.|ENSP00000326375:S315L;ENSP00000390292:S315L;ENSP00000379098:S315L;ENSP00000422416:S186L;ENSP00000397937:S315L;ENSP00000351542:S315L;ENSP00000326427:S315L;ENSP00000326544:S315L;ENSP00000326518:S315L;ENSP00000258682:S315L;ENSP00000379096:S315L	.|ENSP00000258682:S315L	Q|S	-|-	1|2	0|0	CAMK2B|CAMK2B	44246833|44246833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	9.340000|9.340000	0.97038|0.97038	1.824000|1.824000	0.53156|0.53156	0.313000|0.313000	0.20887|0.20887	CAG|TCA		0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		7	32	0	0	0	1	0	7	32				
HEY2	23493	broad.mit.edu	37	6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587																																						ENST00000368364.3																			2	Substitution - Missense(2)	p.A134V(2)	large_intestine(1)|lung(1)	breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(400-402)gCg>gTg		hes-related family bHLH transcription factor with YRPW motif 2							132.0	118.0	123.0					6																	126080335		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080335C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.401C>T	6.37:g.126080335C>T	ENSP00000357348:p.Ala134Val					HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	p.A134V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	598	+			134			Orange.			Missense_Mutation	SNP	ENST00000368364.3	37	c.401C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731357	0.69189	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.54071	0.59;0.59	5.54	5.54	0.83059	Orange subgroup (1);Orange (2);	0.066854	0.64402	D	0.000019	T	0.49575	0.1565	L	0.38838	1.175	0.80722	D	1	D	0.60160	0.987	P	0.56788	0.806	T	0.30794	-0.9966	10	0.25751	T	0.34	-8.5007	19.4671	0.94946	0.0:1.0:0.0:0.0	.	134	Q9UBP5	HEY2_HUMAN	V	88;134	ENSP00000357349:A88V;ENSP00000357348:A134V	ENSP00000357348:A134V	A	+	2	0	HEY2	126122028	1.000000	0.71417	0.959000	0.39883	0.214000	0.24535	7.736000	0.84948	2.606000	0.88127	0.561000	0.74099	GCG		0.587	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			26	95	0	0	0	1	0	26	95				
TUBA1B	10376	broad.mit.edu	37	12	49523132	49523132	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:49523132C>G	ENST00000336023.5	-	3	362	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	90					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATGAGCTGCTCAGGGTGGAAG	0.552																																						ENST00000336023.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.(268-270)Gag>Cag		tubulin, alpha 1b							104.0	102.0	103.0					12																	49523132		2203	4300	6503	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523132C>G	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.268G>C	12.37:g.49523132C>G	ENSP00000336799:p.Glu90Gln					RP11-386G11.10_ENST00000547387.1_RNA	p.E90Q	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN			3	362	-			90					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.268G>C	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	c	13.12	2.141247	0.37825	.	.	ENSG00000123416	ENST00000336023;ENST00000550367;ENST00000549870;ENST00000547476	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	4.92	4.92	0.64577	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.45606	U	0.000347	T	0.76040	0.3932	M	0.92077	3.27	0.80722	D	1	B	0.10296	0.003	B	0.17433	0.018	T	0.78094	-0.2338	10	0.87932	D	0	.	16.9649	0.86283	0.0:1.0:0.0:0.0	.	90	P68363	TBA1B_HUMAN	Q	90;90;55;55	ENSP00000336799:E90Q;ENSP00000449325:E90Q;ENSP00000449460:E55Q;ENSP00000449748:E55Q	ENSP00000336799:E90Q	E	-	1	0	TUBA1B	47809399	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.748000	0.62148	2.292000	0.77174	0.650000	0.86243	GAG		0.552	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		5	168	0	0	0	1	0	5	168				
MUC17	140453	broad.mit.edu	37	7	100684956	100684956	+	Nonsense_Mutation	SNP	C	C	G	rs542719469		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100684956C>G	ENST00000306151.4	+	3	10323	c.10259C>G	c.(10258-10260)tCa>tGa	p.S3420*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3420	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACACCCTTTCAACAACTCCT	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10258-10260)tCa>tGa		mucin 17, cell surface associated							247.0	253.0	251.0					7																	100684956		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684956C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10259C>G	7.37:g.100684956C>G	ENSP00000302716:p.Ser3420*						p.S3420*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10323	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3420			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.10259C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	49	15.537049	0.99837	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.37	0.387	0.16259	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	5.3186	0.15870	0.0:0.767:0.0:0.233	.	.	.	.	X	3420	.	ENSP00000302716:S3420X	S	+	2	0	MUC17	100471676	0.000000	0.05858	0.008000	0.14137	0.032000	0.12392	-0.133000	0.10451	0.715000	0.32103	0.186000	0.17326	TCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		16	549	0	0	0	1	0	16	549				
FBXL7	23194	broad.mit.edu	37	5	15936965	15936965	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:15936965C>T	ENST00000504595.1	+	4	1627	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	FBXL7_ENST00000510662.1_Silent_p.N335N|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Silent_p.N370N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	382					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTACCTCAACGCGAGGGGCT	0.617																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1144-1146)aaC>aaT		F-box and leucine-rich repeat protein 7							66.0	72.0	70.0					5																	15936965		2182	4269	6451	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936965C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1146C>T	5.37:g.15936965C>T						FBXL7_ENST00000510662.1_Silent_p.N335N|FBXL7_ENST00000329673.7_Silent_p.N370N	p.N382N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1627	+			382					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.1146C>T	CCDS54833.1																																																																																				0.617	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	24	0	0	0	1	0	5	24				
AHCTF1	25909	broad.mit.edu	37	1	247014083	247014083	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:247014083C>G	ENST00000391829.2	-	33	5348	c.5225G>C	c.(5224-5226)aGa>aCa	p.R1742T	AHCTF1_ENST00000366508.1_Missense_Mutation_p.R1777T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1751T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1742	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACGTTGACCTCTCGTACGAGT	0.443																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5329-5331)aGa>aCa		AT hook containing transcription factor 1							37.0	34.0	35.0					1																	247014083		2201	4276	6477	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014083C>G		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5225G>C	1.37:g.247014083C>G	ENSP00000375705:p.Arg1742Thr					AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1751T|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R1742T|AHCTF1_ENST00000470300.1_5'UTR	p.R1777T			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5466	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1742			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5330G>C		.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171358	0.06421	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.40476	1.03;1.03;1.04	5.81	4.9	0.64082	.	0.136203	0.52532	D	0.000073	T	0.44371	0.1290	M	0.68952	2.095	0.36068	D	0.841915	P;B;B	0.46277	0.875;0.383;0.162	P;B;B	0.47376	0.545;0.045;0.02	T	0.51849	-0.8653	10	0.14252	T	0.57	-20.5133	9.7572	0.40510	0.0:0.787:0.1395:0.0735	.	603;1777;1742	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	T	1777;1751;1742	ENSP00000355464:R1777T;ENSP00000355465:R1751T;ENSP00000375705:R1742T	ENSP00000355465:R1751T	R	-	2	0	AHCTF1	245080706	0.047000	0.20315	0.716000	0.30569	0.027000	0.11550	0.924000	0.28777	1.461000	0.47929	0.655000	0.94253	AGA		0.443	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		14	43	0	0	0	1	0	14	43				
COL14A1	7373	broad.mit.edu	37	8	121220601	121220601	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:121220601G>A	ENST00000297848.3	+	11	1591		c.e11+1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000537875.1_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAAACTACACGTATGTATTTA	0.403																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.e11+1		collagen, type XIV, alpha 1							84.0	80.0	82.0					8																	121220601		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121220601G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1321+1G>A	8.37:g.121220601G>A						COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000537875.1_Splice_Site		NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		11	1591	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	SNP	ENST00000297848.3	37		CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992781	0.74703	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000523142;ENST00000434620	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.681	0.91546	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121289782	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	9.055000	0.93873	2.484000	0.83849	0.561000	0.74099	.		0.403	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	22	36	0	0	0	1	0	22	36				
PARD3	56288	broad.mit.edu	37	10	34671826	34671826	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:34671826G>A	ENST00000374789.3	-	9	1366	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PARD3_ENST00000340077.5_Silent_p.A347A|PARD3_ENST00000374776.1_Silent_p.A347A|PARD3_ENST00000544292.1_Silent_p.A77A|PARD3_ENST00000374788.3_Silent_p.A347A|PARD3_ENST00000374790.3_Silent_p.A303A|PARD3_ENST00000346874.4_Silent_p.A347A|PARD3_ENST00000545693.1_Silent_p.A347A|PARD3_ENST00000374794.3_Silent_p.A303A|PARD3_ENST00000350537.4_Silent_p.A347A|PARD3_ENST00000545260.1_Silent_p.A303A|PARD3_ENST00000374773.1_Silent_p.A347A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	347	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTGTACGCATGGCTTGGCGAA	0.378																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1039-1041)gcC>gcT		par-3 family cell polarity regulator							136.0	126.0	129.0					10																	34671826		2203	4300	6503	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671826G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1041C>T	10.37:g.34671826G>A						PARD3_ENST00000340077.5_Silent_p.A347A|PARD3_ENST00000374776.1_Silent_p.A347A|PARD3_ENST00000545260.1_Silent_p.A303A|PARD3_ENST00000544292.1_Silent_p.A77A|PARD3_ENST00000346874.4_Silent_p.A347A|PARD3_ENST00000374773.1_Silent_p.A347A|PARD3_ENST00000350537.4_Silent_p.A347A|PARD3_ENST00000374788.3_Silent_p.A347A|PARD3_ENST00000545693.1_Silent_p.A347A|PARD3_ENST00000374790.3_Silent_p.A303A|PARD3_ENST00000374794.3_Silent_p.A303A	p.A347A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1366	-		Breast(68;0.0707)	347			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.1041C>T	CCDS7178.1																																																																																				0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		37	106	0	0	0	1	0	37	106				
STK10	6793	broad.mit.edu	37	5	171481612	171481612	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:171481612C>T	ENST00000176763.5	-	17	2956	c.2613G>A	c.(2611-2613)gcG>gcA	p.A871A		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	871	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCACACTGCGCCAGCATGT	0.627																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2611-2613)gcG>gcA		serine/threonine kinase 10							128.0	108.0	115.0					5																	171481612		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171481612C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2613G>A	5.37:g.171481612C>T							p.A871A	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		17	2956	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	871			Gln-rich.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.2613G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	8.047	0.765095	0.15914	.	.	ENSG00000072786	ENST00000520476	.	.	.	4.75	-9.5	0.00584	.	.	.	.	.	T	0.47655	0.1457	.	.	.	0.42593	D	0.993254	.	.	.	.	.	.	T	0.57780	-0.7752	4	.	.	.	.	9.5829	0.39499	0.0:0.2645:0.4447:0.2908	.	.	.	.	H	144	.	.	R	-	2	0	STK10	171414217	0.000000	0.05858	0.177000	0.23020	0.823000	0.46562	-3.099000	0.00605	-2.149000	0.00797	-1.147000	0.01851	CGC		0.627	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		66	136	0	0	0	1	0	66	136				
DIO3	1735	broad.mit.edu	37	14	102028295	102028295	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:102028295C>T	ENST00000510508.4	+	1	608	c.462C>T	c.(460-462)taC>taT	p.Y154Y	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.Y128Y			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	154					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCCTCGACTACGCGCAAGGGA	0.627																																						ENST00000510508.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(460-462)taC>taT		deiodinase, iodothyronine, type III							34.0	39.0	37.0					14																	102028295		2068	4201	6269	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028295C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.462C>T	14.37:g.102028295C>T						DIO3_ENST00000359323.3_Silent_p.Y128Y	p.Y154Y			P55073	IOD3_HUMAN			1	608	+		all_neural(303;0.185)	128					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.462C>T	CCDS41992.2																																																																																				0.627	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		27	72	0	0	0	1	0	27	72				
EPN1	29924	broad.mit.edu	37	19	56206609	56206609	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:56206609C>G	ENST00000270460.6	+	11	1929	c.1618C>G	c.(1618-1620)Ccc>Gcc	p.P540A	EPN1_ENST00000411543.2_Missense_Mutation_p.P626A|AC010525.7_ENST00000589698.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000085079.7_Missense_Mutation_p.P514A	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	540	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TCCTGTGCCTCCCGTCCCTGG	0.716																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1876-1878)Ccc>Gcc		epsin 1							25.0	29.0	28.0					19																	56206609		2069	4188	6257	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206609C>G	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1618C>G	19.37:g.56206609C>G	ENSP00000270460:p.Pro540Ala					EPN1_ENST00000085079.7_Missense_Mutation_p.P514A|EPN1_ENST00000270460.6_Missense_Mutation_p.P540A	p.P626A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	11	2423	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	540					Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1876C>G	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477138	0.26511	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15372	2.49;2.48;2.43	3.97	1.77	0.24775	.	0.227929	0.35903	N	0.002919	T	0.16342	0.0393	M	0.62723	1.935	0.80722	D	1	B;B;B;B	0.32101	0.088;0.356;0.088;0.143	B;B;B;B	0.33454	0.023;0.164;0.023;0.051	T	0.03795	-1.1003	10	0.33141	T	0.24	-5.2387	7.5664	0.27881	0.164:0.7449:0.0:0.091	.	500;626;540;514	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	A	540;514;500;626	ENSP00000270460:P540A;ENSP00000085079:P514A;ENSP00000406209:P626A	ENSP00000085079:P514A	P	+	1	0	EPN1	60898421	0.998000	0.40836	0.308000	0.25141	0.048000	0.14542	2.723000	0.47277	0.433000	0.26313	0.655000	0.94253	CCC		0.716	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		9	28	0	0	0	1	0	9	28				
ALPPL2	251	broad.mit.edu	37	2	233273429	233273429	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:233273429G>C	ENST00000295453.3	+	8	924	c.872G>C	c.(871-873)gGa>gCa	p.G291A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	291					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TTTGAGCCTGGAGACATGAAA	0.627																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(871-873)gGa>gCa		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						19.0	17.0	18.0					2																	233273429		2138	3994	6132	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273429G>C	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.872G>C	2.37:g.233273429G>C	ENSP00000295453:p.Gly291Ala						p.G291A	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	8	924	+		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)	291					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.872G>C	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	0.402	-0.917974	0.02396	.	.	ENSG00000163286	ENST00000295453	D	0.96300	-3.97	2.12	-4.24	0.03777	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.135060	0.06310	N	0.702519	D	0.90762	0.7100	L	0.34521	1.04	0.09310	N	1	B	0.15930	0.015	B	0.20577	0.03	T	0.79371	-0.1831	10	0.27082	T	0.32	.	3.1522	0.06492	0.1393:0.4417:0.2326:0.1864	.	291	P10696	PPBN_HUMAN	A	291	ENSP00000295453:G291A	ENSP00000295453:G291A	G	+	2	0	ALPPL2	232981673	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-4.972000	0.00164	-1.629000	0.01546	0.411000	0.27672	GGA		0.627	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		5	24	0	0	0	1	0	5	24				
PKDREJ	10343	broad.mit.edu	37	22	46654578	46654578	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:46654578G>C	ENST00000253255.5	-	1	4641	c.4642C>G	c.(4642-4644)Cag>Gag	p.Q1548E		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1548					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGGACATCCTGATCATCTTCT	0.488																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4642-4644)Cag>Gag		polycystin (PKD) family receptor for egg jelly							226.0	227.0	226.0					22																	46654578		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654578G>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4642C>G	22.37:g.46654578G>C	ENSP00000253255:p.Gln1548Glu						p.Q1548E	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4641	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1548					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4642C>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	3.317	-0.139660	0.06669	.	.	ENSG00000130943	ENST00000253255	T	0.34859	1.34	4.47	-2.31	0.06765	.	7.342820	0.00357	N	0.000023	T	0.25568	0.0622	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.24977	-1.0145	10	0.08837	T	0.75	-0.9554	11.9269	0.52825	0.0:0.6379:0.2312:0.1309	.	1548	Q9NTG1	PKDRE_HUMAN	E	1548	ENSP00000253255:Q1548E	ENSP00000253255:Q1548E	Q	-	1	0	PKDREJ	45033242	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.718000	0.04980	-0.065000	0.13021	-0.494000	0.04653	CAG		0.488	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		61	195	0	0	0	1	0	61	195				
LOXL2	4017	broad.mit.edu	37	8	23190959	23190959	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:23190959G>A	ENST00000389131.3	-	5	1290	c.921C>T	c.(919-921)ttC>ttT	p.F307F	RP11-177H13.2_ENST00000519692.1_RNA|LOXL2_ENST00000518472.1_5'UTR	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	307					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGTCAGGGCTGAAGACCTGCC	0.632																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(919-921)ttC>ttT		lysyl oxidase-like 2							112.0	97.0	102.0					8																	23190959		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23190959G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.921C>T	8.37:g.23190959G>A						LOXL2_ENST00000518472.1_5'UTR	p.F307F	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1290	-		Prostate(55;0.0453)|Breast(100;0.143)	307					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.921C>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.395603	0.25205	.	.	ENSG00000134013	ENST00000520349	.	.	.	5.93	4.95	0.65309	.	.	.	.	.	T	0.49575	0.1565	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47005	-0.9150	4	.	.	.	.	4.8523	0.13543	0.2585:0.0:0.7415:0.0	.	.	.	.	L	17	.	.	S	-	2	0	LOXL2	23246904	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.493000	0.45320	2.829000	0.97493	0.645000	0.84053	TCA		0.632	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			32	101	0	0	0	1	0	32	101				
HLA-B	3106	broad.mit.edu	37	6	31323268	31323268	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:31323268A>C	ENST00000412585.2	-	4	749	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	241	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.W241R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCCGCTGCCAGGTCAGTGTG	0.612									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			1	Substitution - Missense(1)	p.W241R(1)	endometrium(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(721-723)Tgg>Ggg		major histocompatibility complex, class I, B							92.0	86.0	88.0					6																	31323268		2203	4300	6503	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323268A>C	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.721T>G	6.37:g.31323268A>C	ENSP00000399168:p.Trp241Gly						p.W241G	NM_005514.6	NP_005505.2					4	749	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.721T>G	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	12.46	1.945179	0.34283	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.71579	-0.58	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.39687	U	0.001283	D	0.88332	0.6408	H	0.99712	4.72	0.37404	D	0.91298	D	0.89917	1.0	D	0.91635	0.999	D	0.90412	0.4410	10	0.87932	D	0	.	9.5822	0.39495	1.0:0.0:0.0:0.0	.	241	P01889	1B07_HUMAN	G	241;120;120	ENSP00000399168:W241G	ENSP00000399168:W241G	W	-	1	0	HLA-B	31431247	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.298000	0.65710	1.423000	0.47198	0.363000	0.22086	TGG		0.612	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		44	144	0	0	0	1	0	44	144				
ZYG11B	79699	broad.mit.edu	37	1	53287268	53287268	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:53287268C>T	ENST00000294353.6	+	14	2347	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	ZYG11B_ENST00000443756.2_Silent_p.P664P	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	734										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GGCCACCTCCCTGTAAAAAAC	0.423																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(2200-2202)ccC>ccT		zyg-11 family member B, cell cycle regulator							71.0	69.0	69.0					1																	53287268		2203	4300	6503	SO:0001819	synonymous_variant	79699						protein binding	g.chr1:53287268C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2202C>T	1.37:g.53287268C>T						ZYG11B_ENST00000443756.2_Silent_p.P664P	p.P734P	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			14	2347	+			734					Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	c.2202C>T	CCDS30717.1																																																																																				0.423	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		16	49	0	0	0	1	0	16	49				
CELSR2	1952	broad.mit.edu	37	1	109816662	109816662	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:109816662C>A	ENST00000271332.3	+	34	8824	c.8763C>A	c.(8761-8763)ttC>ttA	p.F2921L	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2921					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTTTAACTTCCTGCATTAAC	0.542																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(8761-8763)ttC>ttA		cadherin, EGF LAG seven-pass G-type receptor 2							254.0	228.0	237.0					1																	109816662		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109816662C>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8763C>A	1.37:g.109816662C>A	ENSP00000271332:p.Phe2921Leu					CELSR2_ENST00000498157.1_3'UTR	p.F2921L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	34	8824	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2921					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8763C>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672787	0.47781	.	.	ENSG00000143126	ENST00000271332	T	0.67345	-0.26	4.61	4.61	0.57282	.	.	.	.	.	T	0.43875	0.1267	N	0.14661	0.345	0.36166	D	0.848412	P	0.43392	0.805	P	0.45506	0.483	T	0.56992	-0.7887	9	0.87932	D	0	.	12.8214	0.57696	0.0:1.0:0.0:0.0	.	2921	Q9HCU4	CELR2_HUMAN	L	2921	ENSP00000271332:F2921L	ENSP00000271332:F2921L	F	+	3	2	CELSR2	109618185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.633000	0.46519	2.399000	0.81585	0.561000	0.74099	TTC		0.542	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	218	1	0	0.00198382	1	0.00200401	6	218				
PKHD1L1	93035	broad.mit.edu	37	8	110519954	110519954	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:110519954G>C	ENST00000378402.5	+	69	11161	c.11057G>C	c.(11056-11058)aGa>aCa	p.R3686T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3686					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)			TCTTTTCTTAGAGACATAGAT	0.408										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.(11056-11058)aGa>aCa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							112.0	108.0	109.0					8																	110519954		1890	4121	6011	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110519954G>C	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.11057G>C	8.37:g.110519954G>C	ENSP00000367655:p.Arg3686Thr	HNSCC(38;0.096)					p.R3686T	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		69	11161	+			3686					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.11057G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551477	0.45487	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.86366	-2.11;-1.92	5.4	-0.781	0.10965	.	0.194224	0.43747	D	0.000524	T	0.76786	0.4036	L	0.36672	1.1	0.23260	N	0.998027	B	0.15473	0.013	B	0.13407	0.009	T	0.60964	-0.7158	10	0.25106	T	0.35	.	8.7882	0.34835	0.5952:0.0:0.4048:0.0	.	3686	Q86WI1	PKHL1_HUMAN	T	3686;614	ENSP00000367655:R3686T;ENSP00000437376:R614T	ENSP00000367655:R3686T	R	+	2	0	PKHD1L1	110589130	1.000000	0.71417	0.919000	0.36401	0.994000	0.84299	1.324000	0.33712	-0.002000	0.14469	0.655000	0.94253	AGA		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	58	0	0	0	1	0	20	58				
SLC4A4	8671	broad.mit.edu	37	4	72363371	72363371	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:72363371C>G	ENST00000264485.5	+	16	2245	c.2128C>G	c.(2128-2130)Ctg>Gtg	p.L710V	SLC4A4_ENST00000340595.3_Missense_Mutation_p.L666V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L710V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L710V	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	710					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTCCATGGCTCTGAAAAAATT	0.363																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1996-1998)Ctg>Gtg		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							116.0	120.0	118.0					4																	72363371		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72363371C>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2128C>G	4.37:g.72363371C>G	ENSP00000264485:p.Leu710Val					SLC4A4_ENST00000351898.6_Missense_Mutation_p.L710V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L710V|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L710V	p.L666V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		13	2192	+			710					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1996C>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661423	0.67700	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.59	2.81	0.32909	Bicarbonate transporter, C-terminal (1);	0.132291	0.52532	D	0.000064	D	0.93301	0.7865	M	0.90870	3.155	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.996;0.997	D	0.91291	0.5059	10	0.72032	D	0.01	.	6.8632	0.24077	0.2453:0.6192:0.0:0.1355	.	710;710;666;710	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	V	710;710;710;666	ENSP00000264485:L710V;ENSP00000393557:L710V;ENSP00000307349:L710V;ENSP00000344272:L666V	ENSP00000264485:L710V	L	+	1	2	SLC4A4	72582235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.333000	0.52090	0.339000	0.23719	0.655000	0.94253	CTG		0.363	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		25	87	0	0	0	1	0	25	87				
ZCCHC11	23318	broad.mit.edu	37	1	52927235	52927235	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:52927235C>G	ENST00000371544.3	-	18	3443	c.3181G>C	c.(3181-3183)Gaa>Caa	p.E1061Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1061Q|ZCCHC11_ENST00000371541.1_5'Flank	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1061					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CGCCTGTGTTCAAATTTTACT	0.279																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3181-3183)Gaa>Caa		zinc finger, CCHC domain containing 11							50.0	51.0	51.0					1																	52927235		2201	4294	6495	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52927235C>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3181G>C	1.37:g.52927235C>G	ENSP00000360599:p.Glu1061Gln					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1061Q	p.E1061Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			18	3443	-			1061					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3181G>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229112	0.79688	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.81	5.81	0.92471	.	0.050444	0.85682	D	0.000000	T	0.55816	0.1944	L	0.33485	1.01	0.80722	D	1	P;D	0.89917	0.898;1.0	P;D	0.91635	0.78;0.999	T	0.45220	-0.9276	10	0.29301	T	0.29	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	820;1061	E9PKX1;Q5TAX3	.;TUT4_HUMAN	Q	1061;1061;990;820	ENSP00000257177:E1061Q;ENSP00000360599:E1061Q;ENSP00000433486:E990Q;ENSP00000435256:E820Q	ENSP00000257177:E1061Q	E	-	1	0	ZCCHC11	52699823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.714000	0.54889	2.746000	0.94184	0.650000	0.86243	GAA		0.279	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		18	21	0	0	0	1	0	18	21				
ZNF41	7592	broad.mit.edu	37	X	47307709	47307709	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:47307709C>G	ENST00000377065.4	-	5	2099	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.R497T|ZNF41_ENST00000313116.7_Missense_Mutation_p.R487T	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GGTGTGAATTCTTTGATGCAC	0.423																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1459-1461)aGa>aCa		zinc finger protein 41							98.0	91.0	93.0					X																	47307709		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307709C>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1460G>C	X.37:g.47307709C>G	ENSP00000366265:p.Arg487Thr					ZNF41_ENST00000313116.7_Missense_Mutation_p.R487T|ZNF41_ENST00000397050.2_Missense_Mutation_p.R497T	p.R487T	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2099	-		all_lung(315;0.000129)	529					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1460G>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886516	0.51908	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.25414	1.8;1.8;1.8	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37669	N	0.001993	T	0.44953	0.1318	M	0.69358	2.11	0.22762	N	0.998761	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.99;0.999;0.993;0.996	T	0.17868	-1.0355	10	0.87932	D	0	.	9.0834	0.36565	0.0:0.8863:0.0:0.1137	.	487;489;497;521;529	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	T	487;487;497	ENSP00000315173:R487T;ENSP00000366265:R487T;ENSP00000380243:R497T	ENSP00000315173:R487T	R	-	2	0	ZNF41	47192653	0.000000	0.05858	0.010000	0.14722	0.863000	0.49368	0.575000	0.23729	1.042000	0.40150	0.600000	0.82982	AGA		0.423	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		3	42	0	0	0	1	0	3	42				
SCEL	8796	broad.mit.edu	37	13	78171683	78171683	+	Silent	SNP	A	A	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:78171683A>G	ENST00000349847.3	+	13	840	c.756A>G	c.(754-756)gaA>gaG	p.E252E	SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Silent_p.E232E|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000535157.1_Silent_p.E230E	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	252	16 X approximate tandem repeats.				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)		CCCAAAGTGAAGAATTGGATA	0.303																																						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.(688-690)gaA>gaG		sciellin							100.0	97.0	98.0					13																	78171683		2189	4295	6484	SO:0001819	synonymous_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78171683A>G	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.756A>G	13.37:g.78171683A>G						SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000349847.3_Silent_p.E252E|SCEL_ENST00000377246.3_Silent_p.E232E	p.E230E	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	12	860	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	252					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	ENST00000349847.3	37	c.690A>G	CCDS9459.1																																																																																				0.303	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		8	18	0	0	0	1	0	8	18				
OR5AU1	390445	broad.mit.edu	37	14	21624144	21624144	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:21624144C>G	ENST00000304418.3	-	1	78	c.41G>C	c.(40-42)aGa>aCa	p.R14T		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	14						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GAAGATGAGTCTTATTGAGGG	0.448																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(40-42)aGa>aCa		olfactory receptor, family 5, subfamily AU, member 1							166.0	159.0	162.0					14																	21624144		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21624144C>G	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.41G>C	14.37:g.21624144C>G	ENSP00000302057:p.Arg14Thr						p.R14T	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	78	-	all_cancers(95;0.00238)		14					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.41G>C	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742246	0.30865	.	.	ENSG00000169327	ENST00000304418	T	0.00007	9.69	3.85	1.95	0.26073	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.17433	0.018	T	0.03957	-1.0989	9	0.87932	D	0	.	5.3198	0.15876	0.0:0.6595:0.0:0.3405	.	14	Q8NGC0	O5AU1_HUMAN	T	14	ENSP00000302057:R14T	ENSP00000302057:R14T	R	-	2	0	OR5AU1	20693984	0.000000	0.05858	0.019000	0.16419	0.350000	0.29205	0.137000	0.15995	1.683000	0.51011	0.491000	0.48974	AGA		0.448	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			50	164	0	0	0	1	0	50	164				
GNPTAB	79158	broad.mit.edu	37	12	102158732	102158732	+	Missense_Mutation	SNP	G	G	A	rs281864983		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:102158732G>A	ENST00000299314.7	-	13	2225	c.1963C>T	c.(1963-1965)Ccc>Tcc	p.P655S	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	655					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGTGTTATGGGACTAACTAAA	0.423																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1963-1965)Ccc>Tcc		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							146.0	141.0	143.0					12																	102158732		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158732G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1963C>T	12.37:g.102158732G>A	ENSP00000299314:p.Pro655Ser						p.P655S	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2225	-			655					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1963C>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	6.804	0.517336	0.13005	.	.	ENSG00000111670	ENST00000299314	D	0.95949	-3.86	5.96	2.13	0.27403	.	0.287039	0.38897	N	0.001535	D	0.87273	0.6136	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.78692	-0.2105	10	0.37606	T	0.19	-3.5838	9.5786	0.39472	0.2942:0.0:0.7058:0.0	.	655	Q3T906	GNPTA_HUMAN	S	655	ENSP00000299314:P655S	ENSP00000299314:P655S	P	-	1	0	GNPTAB	100682863	0.939000	0.31865	0.466000	0.27168	0.002000	0.02628	0.473000	0.22132	0.432000	0.26286	-0.140000	0.14226	CCC		0.423	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			21	60	0	0	0	1	0	21	60				
GPC5	2262	broad.mit.edu	37	13	92380902	92380902	+	Silent	SNP	G	G	A	rs371912542		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:92380902G>A	ENST00000377067.3	+	4	1509	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	379					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGAAGAGACGCTTGCCAACA	0.393																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1135-1137)acG>acA		glypican 5		G		1,4405	2.1+/-5.4	0,1,2202	116.0	120.0	119.0		1137	-4.2	1.0	13		119	0,8600		0,0,4300	no	coding-synonymous	GPC5	NM_004466.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		379/573	92380902	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380902G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1137G>A	13.37:g.92380902G>A						GPC5_ENST00000483422.1_3'UTR	p.T379T	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			4	1509	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	379					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.1137G>A	CCDS9468.1																																																																																				0.393	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		37	94	0	0	0	1	0	37	94				
LRRC37A2	474170	broad.mit.edu	37	17	44632664	44632664	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:44632664C>G	ENST00000576629.1	+	14	5423	c.4928C>G	c.(4927-4929)tCa>tGa	p.S1643*	ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.S1643*|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1643						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGACTTTCCTCATTTGGACAG	0.418																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(4927-4929)tCa>tGa		leucine rich repeat containing 37, member A2							70.0	116.0	101.0					17																	44632664		2043	4137	6180	SO:0001587	stop_gained	474170					integral to membrane		g.chr17:44632664C>G	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4928C>G	17.37:g.44632664C>G	ENSP00000459551:p.Ser1643*					ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000336125.5_3'UTR|LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.S1643*	p.S1643*			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	14	5423	+		Melanoma(429;0.211)	1643					B7ZMC3	Nonsense_Mutation	SNP	ENST00000576629.1	37	c.4928C>G	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	c	43	10.188569	0.99355	.	.	ENSG00000238083	ENST00000333412	.	.	.	2.28	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	6.777	0.23624	0.0:0.3029:0.697:0.0	.	.	.	.	X	1643	.	ENSP00000333071:S1643X	S	+	2	0	LRRC37A2	41987980	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.031000	0.12287	0.514000	0.28300	0.152000	0.16155	TCA		0.418	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		4	205	0	0	0	1	0	4	205				
ZNF205	7755	broad.mit.edu	37	16	3168975	3168975	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:3168975G>A	ENST00000382192.3	+	6	759	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	ZNF205_ENST00000219091.4_Missense_Mutation_p.R185Q|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	185	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGCTCCAGCCGGCAGGCAGGA	0.667																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(553-555)cGg>cAg		zinc finger protein 205							56.0	67.0	64.0					16																	3168975		2197	4300	6497	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3168975G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.554G>A	16.37:g.3168975G>A	ENSP00000371627:p.Arg185Gln					RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R185Q	p.R185Q	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			6	759	+			185			KRAB.		A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.554G>A	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956841	0.18507	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.08370	3.19;3.19;3.1	4.63	-5.3	0.02738	Krueppel-associated box (1);	2.278970	0.02323	N	0.073127	T	0.04363	0.0120	N	0.24115	0.695	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.34875	-0.9811	10	0.16896	T	0.51	-3.8097	0.5835	0.00715	0.4019:0.1341:0.1924:0.2716	.	185	O95201	ZN205_HUMAN	Q	185	ENSP00000371627:R185Q;ENSP00000219091:R185Q;ENSP00000403306:R185Q	ENSP00000219091:R185Q	R	+	2	0	ZNF205	3108976	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-3.519000	0.00444	-0.805000	0.04404	-0.367000	0.07326	CGG		0.667	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		52	140	0	0	0	1	0	52	140				
MMP27	64066	broad.mit.edu	37	11	102564693	102564693	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:102564693G>A	ENST00000260229.4	-	8	1228	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	379					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TATCACAGACGGCTGCATCTA	0.393																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1135-1137)gcC>gcT		matrix metallopeptidase 27							148.0	140.0	143.0					11																	102564693		2203	4299	6502	SO:0001819	synonymous_variant	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102564693G>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1137C>T	11.37:g.102564693G>A							p.A379A	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	8	1228	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	379			Hemopexin-like 3.		Q6UWK6	Silent	SNP	ENST00000260229.4	37	c.1137C>T	CCDS8319.1																																																																																				0.393	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		44	99	0	0	0	1	0	44	99				
AP2B1	163	broad.mit.edu	37	17	33932734	33932734	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:33932734C>G	ENST00000262325.7	+	4	707	c.154C>G	c.(154-156)Cca>Gca	p.P52A	AP2B1_ENST00000537622.2_Missense_Mutation_p.P52A|AP2B1_ENST00000589344.1_Missense_Mutation_p.P52A|AP2B1_ENST00000592545.1_Missense_Mutation_p.P52A|AP2B1_ENST00000312678.8_Missense_Mutation_p.P52A|AP2B1_ENST00000538556.1_5'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	52					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCTCTCTTTCCAGACGTAGT	0.438																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(154-156)Cca>Gca		adaptor-related protein complex 2, beta 1 subunit							131.0	127.0	128.0					17																	33932734		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33932734C>G	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.154C>G	17.37:g.33932734C>G	ENSP00000262325:p.Pro52Ala					AP2B1_ENST00000589344.1_Missense_Mutation_p.P52A|AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.P52A|AP2B1_ENST00000592545.1_Missense_Mutation_p.P52A|AP2B1_ENST00000312678.8_Missense_Mutation_p.P52A	p.P52A	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	4	707	+		Ovarian(249;0.17)	52					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.154C>G	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651158	0.67472	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000537622	T;T;T	0.25912	1.77;1.77;1.77	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.73319	2.225	0.80722	D	1	B;B;B	0.33379	0.41;0.074;0.408	P;B;B	0.45276	0.475;0.045;0.116	T	0.36163	-0.9759	10	0.54805	T	0.06	-10.5271	17.9615	0.89086	0.0:1.0:0.0:0.0	.	52;52;52	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	A	52	ENSP00000262325:P52A;ENSP00000314414:P52A;ENSP00000437413:P52A	ENSP00000262325:P52A	P	+	1	0	AP2B1	30956847	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.018000	0.70811	2.487000	0.83934	0.467000	0.42956	CCA		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			20	88	0	0	0	1	0	20	88				
SCTR	6344	broad.mit.edu	37	2	120194618	120194618	+	IGR	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:120194618G>A	ENST00000019103.5	-	0	1865				TMEM37_ENST00000306406.4_Missense_Mutation_p.G59R|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.G71R	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CCGCCTCTTCGGGCTCTGGCA	0.647																																						ENST00000306406.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(175-177)Ggg>Agg		transmembrane protein 37							85.0	85.0	85.0					2																	120194618		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194618G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194618G>A						TMEM37_ENST00000409826.1_Missense_Mutation_p.G71R|TMEM37_ENST00000465296.1_3'UTR	p.G59R	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN			2	210	+			59					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.175G>A	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590688	0.66219	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.78672	0.4320	M	0.73598	2.24	0.49051	D	0.999745	D	0.89917	1.0	D	0.97110	1.0	T	0.79507	-0.1775	9	0.46703	T	0.11	-24.2649	16.8613	0.86019	0.0:0.0:1.0:0.0	.	59	Q8WXS4	CCGL_HUMAN	R	71;59	.	ENSP00000303148:G59R	G	+	1	0	TMEM37	119911088	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	7.519000	0.81809	2.450000	0.82876	0.655000	0.94253	GGG		0.647	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			30	107	0	0	0	1	0	30	107				
RGAG1	57529	broad.mit.edu	37	X	109694273	109694273	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:109694273T>C	ENST00000465301.2	+	3	674	c.428T>C	c.(427-429)aTg>aCg	p.M143T	RGAG1_ENST00000540313.1_Missense_Mutation_p.M143T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	143										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCAGGGATGATGACAATTCCT	0.502																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(427-429)aTg>aCg		retrotransposon gag domain containing 1							124.0	102.0	110.0					X																	109694273		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694273T>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.428T>C	X.37:g.109694273T>C	ENSP00000419786:p.Met143Thr					RGAG1_ENST00000540313.1_Missense_Mutation_p.M143T	p.M143T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	674	+			143					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.428T>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698880	0.30142	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.46819	0.86;0.86	4.02	2.86	0.33363	.	0.160886	0.29594	N	0.011706	T	0.27559	0.0677	L	0.32530	0.975	0.27346	N	0.956375	P	0.38078	0.617	B	0.30855	0.121	T	0.10268	-1.0637	9	.	.	.	-3.3184	5.1852	0.15180	0.0:0.132:0.0:0.868	.	143	Q8NET4	RGAG1_HUMAN	T	143	ENSP00000419786:M143T;ENSP00000441452:M143T	.	M	+	2	0	RGAG1	109580929	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	2.427000	0.44740	0.697000	0.31718	0.486000	0.48141	ATG		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		60	41	0	0	0	1	0	60	41				
TRPV1	7442	broad.mit.edu	37	17	3489147	3489147	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:3489147C>T	ENST00000571088.1	-	8	1511	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	TRPV1_ENST00000399756.4_Missense_Mutation_p.R433H|TRPV1_ENST00000174621.6_Missense_Mutation_p.R431H|SHPK_ENST00000572705.1_Missense_Mutation_p.R433H|TRPV1_ENST00000425167.2_Missense_Mutation_p.R444H|TRPV1_ENST00000399759.3_Missense_Mutation_p.R433H|TRPV1_ENST00000576351.1_Missense_Mutation_p.R423H|TRPV1_ENST00000310522.5_Missense_Mutation_p.R373H	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	433					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GTAGAAGATGCGCTTGACGAA	0.562																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1291-1293)cGc>cAc		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						91.0	103.0	99.0					17																	3489147		2136	4241	6377	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3489147C>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1298G>A	17.37:g.3489147C>T	ENSP00000461007:p.Arg433His					SHPK_ENST00000572705.1_Missense_Mutation_p.R433H|TRPV1_ENST00000425167.2_Missense_Mutation_p.R444H|TRPV1_ENST00000399756.4_Missense_Mutation_p.R433H|TRPV1_ENST00000576351.1_Missense_Mutation_p.R423H|TRPV1_ENST00000310522.5_Missense_Mutation_p.R373H|TRPV1_ENST00000571088.1_Missense_Mutation_p.R433H|TRPV1_ENST00000399759.3_Missense_Mutation_p.R433H	p.R431H			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	7	1581	-			433					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.1292G>A	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	c	15.10	2.731888	0.48939	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	4.76	4.76	0.60689	.	0.275701	0.40144	N	0.001168	T	0.35885	0.0947	N	0.26042	0.785	0.42457	D	0.992774	B;B;B;B	0.28324	0.134;0.035;0.035;0.207	B;B;B;B	0.18871	0.023;0.011;0.009;0.016	T	0.21381	-1.0247	10	0.33141	T	0.24	-23.4066	10.7534	0.46221	0.0:0.9019:0.0:0.098	.	433;431;373;444	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	H	433;433;431;444;373	ENSP00000382661:R433H;ENSP00000382659:R433H;ENSP00000174621:R431H;ENSP00000409627:R444H;ENSP00000311692:R373H	ENSP00000174621:R431H	R	-	2	0	TRPV1	3435896	0.634000	0.27190	1.000000	0.80357	0.930000	0.56654	1.579000	0.36536	2.348000	0.79779	0.651000	0.88453	CGC		0.562	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		9	37	0	0	0	1	0	9	37				
DIAPH3	81624	broad.mit.edu	37	13	60498986	60498986	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:60498986T>C	ENST00000400324.4	-	18	2313	c.2093A>G	c.(2092-2094)gAt>gGt	p.D698G	DIAPH3_ENST00000267215.4_Missense_Mutation_p.D698G|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D698G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D652G|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D687G|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D628G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	698	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCTTCAATATCTTCCTCTTC	0.299																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2092-2094)gAt>gGt		diaphanous-related formin 3							34.0	34.0	34.0					13																	60498986		1784	4041	5825	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60498986T>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2093A>G	13.37:g.60498986T>C	ENSP00000383178:p.Asp698Gly					DIAPH3_ENST00000400319.1_Missense_Mutation_p.D628G|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D652G|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D698G|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D687G|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D698G|DIAPH3_ENST00000465066.1_5'UTR	p.D698G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	18	2313	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	698			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.2093A>G	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	8.800	0.932767	0.18131	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;D	0.81579	-0.01;-0.01;-0.01;-0.01;-0.01;-1.51	5.67	4.51	0.55191	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.049345	0.85682	N	0.000000	T	0.64148	0.2572	N	0.16233	0.39	0.38488	D	0.947904	B;B;B	0.16166	0.002;0.0;0.016	B;B;B	0.10450	0.004;0.001;0.005	T	0.57347	-0.7827	10	0.22109	T	0.4	.	8.9769	0.35941	0.0:0.0936:0.0:0.9063	.	435;435;698	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	G	698;698;687;652;628;687;628;652;698;435;698	ENSP00000383178:D698G;ENSP00000383184:D698G;ENSP00000367141:D687G;ENSP00000383173:D628G;ENSP00000383174:D652G;ENSP00000267215:D698G	ENSP00000267214:D435G	D	-	2	0	DIAPH3	59396987	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	2.729000	0.47327	0.980000	0.38523	0.528000	0.53228	GAT		0.299	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		5	18	0	0	0	1	0	5	18				
TMUB2	79089	broad.mit.edu	37	17	42266848	42266848	+	Missense_Mutation	SNP	C	C	T	rs374971650		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42266848C>T	ENST00000587989.1	+	3	647	c.494C>T	c.(493-495)aCc>aTc	p.T165I	TMUB2_ENST00000589785.1_Missense_Mutation_p.T145I|TMUB2_ENST00000589856.1_Missense_Mutation_p.T145I|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.T145I|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000319511.6_Missense_Mutation_p.T145I|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000538716.2_Missense_Mutation_p.T165I|TMUB2_ENST00000446571.3_Missense_Mutation_p.T108I|TMUB2_ENST00000587172.1_Intron|ASB16-AS1_ENST00000592897.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	165						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAGGATAGCACCTGCCTCCCT	0.607																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(433-435)aCc>aTc		transmembrane and ubiquitin-like domain containing 2		C	ILE/THR,ILE/THR,ILE/THR	1,4405	2.1+/-5.4	0,1,2202	50.0	51.0	50.0		434,434,494	1.1	0.8	17		50	0,8600		0,0,4300	no	missense,missense,missense	TMUB2	NM_177441.2,NM_024107.2,NM_001076674.1	89,89,89	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	145/302,145/302,165/322	42266848	1,13005	2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266848C>T		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.494C>T	17.37:g.42266848C>T	ENSP00000466971:p.Thr165Ile					TMUB2_ENST00000538716.2_Missense_Mutation_p.T165I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.T165I|TMUB2_ENST00000446571.3_Missense_Mutation_p.T108I|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.T145I|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.T145I|TMUB2_ENST00000589856.1_Missense_Mutation_p.T145I	p.T145I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	1084	+		Breast(137;0.00765)|Prostate(33;0.0181)	165					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.434C>T	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	9.486	1.099440	0.20552	2.27E-4	0.0	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.46819	0.86;0.88;0.86;0.88	4.35	1.08	0.20341	.	0.536026	0.19858	N	0.104489	T	0.44008	0.1273	L	0.43152	1.355	0.09310	N	0.999994	B;B;B	0.32051	0.041;0.354;0.001	B;B;B	0.42214	0.013;0.38;0.002	T	0.40308	-0.9570	10	0.39692	T	0.17	0.1317	9.6258	0.39750	0.1499:0.5604:0.2897:0.0	.	108;145;165	E7ESS3;Q71RG4-3;Q71RG4	.;.;TMUB2_HUMAN	I	108;145;165;145	ENSP00000413127:T108I;ENSP00000350672:T145I;ENSP00000444565:T165I;ENSP00000313214:T145I	ENSP00000313214:T145I	T	+	2	0	TMUB2	39622374	0.000000	0.05858	0.819000	0.32651	0.944000	0.59088	0.624000	0.24462	0.089000	0.17243	0.561000	0.74099	ACC		0.607	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		21	72	0	0	0	1	0	21	72				
MC3R	4159	broad.mit.edu	37	20	54824313	54824313	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:54824313C>T	ENST00000243911.2	+	1	526	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	138					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTGGCCATCGCCGTCGACA	0.567																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(412-414)atC>atT		melanocortin 3 receptor							160.0	133.0	142.0					20																	54824313		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824313C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.414C>T	20.37:g.54824313C>T							p.I138I	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	526	+			175					Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.414C>T	CCDS13449.2																																																																																				0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			31	66	0	0	0	1	0	31	66				
SAFB2	9667	broad.mit.edu	37	19	5622611	5622611	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:5622611C>T	ENST00000252542.4	-	1	380	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000433404.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	39	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CAGCTCCGCCCGCAGATCGAT	0.721																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(115-117)cGg>cAg		scaffold attachment factor B2							25.0	24.0	25.0					19																	5622611		2203	4300	6503	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5622611C>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.116G>A	19.37:g.5622611C>T	ENSP00000252542:p.Arg39Gln						p.R39Q	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	1	380	-			39			SAP.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.116G>A	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956247	0.92726	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542;ENST00000536849	T	0.12879	2.64	3.87	3.87	0.44632	DNA-binding SAP (4);	0.000000	0.41396	D	0.000900	T	0.37265	0.0997	M	0.84433	2.695	0.37190	D	0.903899	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.986	T	0.43702	-0.9375	10	0.46703	T	0.11	-16.16	10.1257	0.42648	0.0:0.906:0.0:0.094	.	39;39	A0PJ47;Q14151	.;SAFB2_HUMAN	Q	39;39;39;39;18	ENSP00000252542:R39Q	ENSP00000252542:R39Q	R	-	2	0	SAFB2	5573611	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.213000	0.51153	2.154000	0.67381	0.561000	0.74099	CGG		0.721	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		4	30	0	0	0	1	0	4	30				
SAFB	6294	broad.mit.edu	37	19	5664425	5664425	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:5664425C>G	ENST00000292123.5	+	17	2416	c.2309C>G	c.(2308-2310)tCa>tGa	p.S770*	SAFB_ENST00000592224.1_Nonsense_Mutation_p.S769*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S701*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S770*|SAFB_ENST00000538656.1_Nonsense_Mutation_p.S612*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S600*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	770	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGTTCAAGGTCAATGATGGGA	0.463																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2308-2310)tCa>tGa		scaffold attachment factor B							95.0	92.0	93.0					19																	5664425		2203	4300	6503	SO:0001587	stop_gained	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664425C>G	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2309C>G	19.37:g.5664425C>G	ENSP00000292123:p.Ser770*					SAFB_ENST00000592224.1_Nonsense_Mutation_p.S769*|SAFB_ENST00000538656.1_Nonsense_Mutation_p.S612*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S701*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S600*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S770*	p.S770*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	17	2416	+			770			Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Nonsense_Mutation	SNP	ENST00000292123.5	37	c.2309C>G	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	39	7.341896	0.98224	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	.	.	.	5.04	5.04	0.67666	.	0.401269	0.18433	N	0.141384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.2963	13.2334	0.59957	0.0:0.8407:0.1593:0.0	.	.	.	.	X	701;665;600;770;612	.	ENSP00000292123:S770X	S	+	2	0	SAFB	5615425	0.989000	0.36119	0.997000	0.53966	0.998000	0.95712	2.556000	0.45862	2.492000	0.84095	0.655000	0.94253	TCA		0.463	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			21	54	0	0	0	1	0	21	54				
TUBD1	51174	broad.mit.edu	37	17	57958466	57958466	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:57958466G>A	ENST00000592426.1	-	3	326	c.326C>T	c.(325-327)tCt>tTt	p.S109F	TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.S109F|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.S109F|TUBD1_ENST00000340993.6_Missense_Mutation_p.S109F|TUBD1_ENST00000394239.3_Missense_Mutation_p.S109F			Q9UJT1	TBD_HUMAN	tubulin, delta 1	109					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TCCATGAACAGAGTAACTATG	0.353																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(325-327)tCt>tTt		tubulin, delta 1							78.0	73.0	75.0					17																	57958466		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57958466G>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.326C>T	17.37:g.57958466G>A	ENSP00000468518:p.Ser109Phe					TUBD1_ENST00000376094.4_Missense_Mutation_p.S109F|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.S109F|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.S109F|TUBD1_ENST00000340993.6_Missense_Mutation_p.S109F|TUBD1_ENST00000591611.1_Intron	p.S109F	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		4	603	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		109					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.326C>T	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188059	0.57909	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.08	4.02	0.46733	Tubulin/FtsZ, GTPase domain (4);	0.186244	0.64402	D	0.000017	T	0.72819	0.3508	L	0.28054	0.825	0.37479	D	0.915916	B;D;B;B	0.61080	0.022;0.989;0.018;0.022	B;P;B;B	0.61070	0.063;0.883;0.022;0.038	T	0.77130	-0.2701	10	0.40728	T	0.16	-12.8581	16.8641	0.86025	0.0:0.3975:0.6025:0.0	.	109;109;109;109	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	F	109	ENSP00000320797:S109F;ENSP00000342399:S109F;ENSP00000377785:S109F;ENSP00000365262:S109F	ENSP00000320797:S109F	S	-	2	0	TUBD1	55313248	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.347000	0.59373	1.564000	0.49628	0.591000	0.81541	TCT		0.353	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		21	70	0	0	0	1	0	21	70				
MBLAC2	153364	broad.mit.edu	37	5	89769875	89769875	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:89769875C>T	ENST00000316610.6	-	1	710	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	POLR3G_ENST00000504930.1_5'Flank|MBLAC2_ENST00000514906.1_Missense_Mutation_p.A79T|POLR3G_ENST00000514483.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	79						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						GTGGCCACGGCAAGCAGTGGC	0.711																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(235-237)Gcc>Acc		metallo-beta-lactamase domain containing 2							13.0	16.0	15.0					5																	89769875		2192	4285	6477	SO:0001583	missense	153364						hydrolase activity|metal ion binding	g.chr5:89769875C>T	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.235G>A	5.37:g.89769875C>T	ENSP00000314776:p.Ala79Thr					MBLAC2_ENST00000514906.1_Missense_Mutation_p.A79T	p.A79T	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			1	710	-			79					D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	37	c.235G>A	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147665	0.97324	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122;ENST00000546270	T;T	0.79653	-1.29;-1.29	5.37	5.37	0.77165	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.66506	2.035	0.80722	D	1	P	0.42078	0.77	P	0.45167	0.472	D	0.85140	0.0980	10	0.59425	D	0.04	-12.9322	19.1187	0.93353	0.0:1.0:0.0:0.0	.	79	Q68D91	MBLC2_HUMAN	T	79;79;79;9	ENSP00000314776:A79T;ENSP00000425600:A79T	ENSP00000314776:A79T	A	-	1	0	AC093510.2;MBLAC2	89805631	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.081000	0.76844	2.496000	0.84212	0.655000	0.94253	GCC		0.711	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		7	14	0	0	0	1	0	7	14				
EXOC2	55770	broad.mit.edu	37	6	562846	562846	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:562846C>T	ENST00000230449.4	-	17	1925		c.e17-1		EXOC2_ENST00000448181.3_Splice_Site	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTCTTTATTTCTATATGAGAA	0.259																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.e17-1		exocyst complex component 2							45.0	47.0	46.0					6																	562846		2196	4287	6483	SO:0001630	splice_region_variant	55770				exocytosis|protein transport			g.chr6:562846C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1790-1G>A	6.37:g.562846C>T						EXOC2_ENST00000448181.3_Splice_Site		NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	17	1925	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)						B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Splice_Site	SNP	ENST00000230449.4	37		CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247946	0.80024	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8051	0.96529	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC2	507846	1.000000	0.71417	0.979000	0.43373	0.842000	0.47809	7.039000	0.76544	2.672000	0.90937	0.557000	0.71058	.		0.259	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	Intron	7	19	0	0	0	1	0	7	19				
AKAP6	9472	broad.mit.edu	37	14	33293223	33293223	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:33293223G>A	ENST00000280979.4	+	13	6374	c.6204G>A	c.(6202-6204)tcG>tcA	p.S2068S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2068	PKA-RII subunit binding domain.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATGGCTTCGACAGCCCTAA	0.423																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(6202-6204)tcG>tcA		A kinase (PRKA) anchor protein 6							57.0	55.0	56.0					14																	33293223		2202	4300	6502	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293223G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6204G>A	14.37:g.33293223G>A						AKAP6_ENST00000557272.1_Intron	p.S2068S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6374	+	Breast(36;0.0388)|Prostate(35;0.15)		2068			PKA-RII subunit binding domain.		A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.6204G>A	CCDS9644.1																																																																																				0.423	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		22	46	0	0	0	1	0	22	46				
FAT4	79633	broad.mit.edu	37	4	126373545	126373545	+	Missense_Mutation	SNP	C	C	T	rs201859188		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:126373545C>T	ENST00000394329.3	+	9	11387	c.11374C>T	c.(11374-11376)Cgg>Tgg	p.R3792W	FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3792					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCCTTCTCCGGCAGAGTGG	0.483																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11374-11376)Cgg>Tgg		FAT atypical cadherin 4		C	TRP/ARG	0,4406		0,0,2203	69.0	68.0	68.0		11374	2.8	0.3	4		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3792/4982	126373545	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373545C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11374C>T	4.37:g.126373545C>T	ENSP00000377862:p.Arg3792Trp					FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W	p.R3792W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11387	+			3792					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11374C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904362	0.52333	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	-0.86;-1.0	5.66	2.85	0.33270	.	0.000000	0.31747	U	0.007130	T	0.78679	0.4321	L	0.40543	1.245	0.46798	D	0.999203	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.987;0.994	T	0.77088	-0.2717	10	0.72032	D	0.01	.	10.3233	0.43780	0.3927:0.4807:0.1265:0.0	.	2090;3792;3792	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	W	3792;2090	ENSP00000377862:R3792W;ENSP00000335169:R2090W	ENSP00000335169:R2090W	R	+	1	2	FAT4	126592995	0.998000	0.40836	0.311000	0.25182	0.850000	0.48378	1.403000	0.34612	0.270000	0.21984	0.561000	0.74099	CGG		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		22	62	0	0	0	1	0	22	62				
TEAD4	7004	broad.mit.edu	37	12	3103948	3103948	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:3103948G>A	ENST00000359864.2	+	3	206	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.G6S	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	6					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GGGCACGGCCGGCACCATTAC	0.662																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(16-18)Ggc>Agc		TEA domain family member 4							44.0	44.0	44.0					12																	3103948		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3103948G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.16G>A	12.37:g.3103948G>A	ENSP00000352926:p.Gly6Ser					TEAD4_ENST00000358409.2_Missense_Mutation_p.G6S|TEAD4_ENST00000397122.2_Intron	p.G6S	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		3	206	+	Ovarian(42;0.211)		6					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000359864.2	37	c.16G>A	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453070	0.63290	.	.	ENSG00000197905	ENST00000358409;ENST00000540314;ENST00000536826;ENST00000359864;ENST00000543035	T;T	0.53640	0.61;0.61	5.23	5.23	0.72850	.	0.251109	0.33075	N	0.005314	T	0.41581	0.1165	L	0.47716	1.5	0.80722	D	1	P	0.52842	0.956	B	0.41088	0.347	T	0.26395	-1.0104	10	0.21540	T	0.41	-19.9002	16.021	0.80493	0.0:0.0:1.0:0.0	.	6	Q15561	TEAD4_HUMAN	S	6	ENSP00000351184:G6S;ENSP00000352926:G6S	ENSP00000351184:G6S	G	+	1	0	TEAD4	2974209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.425000	0.52771	2.442000	0.82660	0.650000	0.86243	GGC		0.662	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	NM_003213		28	78	0	0	0	1	0	28	78				
BTNL8	79908	broad.mit.edu	37	5	180335696	180335696	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:180335696C>T	ENST00000340184.4	+	2	366	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.R54W|BTNL8_ENST00000533815.2_5'Flank|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.R54W	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	54	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGAAGTGCGGTTCTTCAG	0.562																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(160-162)Cgg>Tgg		butyrophilin-like 8							132.0	131.0	131.0					5																	180335696		2203	4300	6503	SO:0001583	missense	79908					integral to membrane		g.chr5:180335696C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.160C>T	5.37:g.180335696C>T	ENSP00000342197:p.Arg54Trp					BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.R54W|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.R54W	p.R54W	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	394	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	54			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.160C>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990567	0.74589	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.66460	-0.21;-0.21;-0.21	2.74	0.479	0.16796	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78817	0.4343	M	0.88640	2.97	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.60886	0.88;0.88;0.817	T	0.79100	-0.1942	9	0.87932	D	0	.	8.2244	0.31560	0.4107:0.5893:0.0:0.0	.	54;54;54	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	W	54	ENSP00000231229:R54W;ENSP00000342197:R54W;ENSP00000424585:R54W	ENSP00000231229:R54W	R	+	1	2	BTNL8	180268302	0.000000	0.05858	0.475000	0.27278	0.733000	0.41908	-0.892000	0.04131	0.434000	0.26340	0.436000	0.28706	CGG		0.562	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		34	110	0	0	0	1	0	34	110				
ST20	400410	broad.mit.edu	37	15	80191317	80191317	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:80191317G>C	ENST00000478497.1	-	3	875	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	ST20-MTHFS_ENST00000479961.1_Intron|MTHFS_ENST00000258874.3_5'Flank|ST20_ENST00000562759.1_Missense_Mutation_p.L66V|ST20_ENST00000485386.1_Missense_Mutation_p.L66V|MTHFS_ENST00000559722.1_5'Flank|ST20-MTHFS_ENST00000494999.1_Intron	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	66					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GTAAGAGTCAGAAAAATTAGG	0.373																																						ENST00000478497.1																			0				kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(196-198)Ctg>Gtg		suppressor of tumorigenicity 20							111.0	112.0	111.0					15																	80191317		2202	4300	6502	SO:0001583	missense	400410							g.chr15:80191317G>C	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.196C>G	15.37:g.80191317G>C	ENSP00000453502:p.Leu66Val					ST20_ENST00000485386.1_Missense_Mutation_p.L66V|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000562759.1_Missense_Mutation_p.L66V	p.L66V	NM_001100879.1	NP_001094349.1					3	875	-									Missense_Mutation	SNP	ENST00000478497.1	37	c.196C>G	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233482	0.39498	.	.	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	1.36	-1.88	0.07713	.	.	.	.	.	T	0.25901	0.0631	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.26360	-1.0105	7	0.87932	D	0	.	2.3791	0.04349	0.3021:0.3099:0.388:0.0	.	66	Q9HBF5	ST20_HUMAN	V	66	.	ENSP00000319125:L66V	L	-	1	2	ST20	77978372	0.000000	0.05858	0.000000	0.03702	0.541000	0.35023	0.160000	0.16462	-0.497000	0.06641	0.205000	0.17691	CTG		0.373	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2			22	79	0	0	0	1	0	22	79				
ZNF683	257101	broad.mit.edu	37	1	26688651	26688651	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:26688651C>T	ENST00000436292.1	-	6	1279	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	ZNF683_ENST00000403843.1_Missense_Mutation_p.G387R|ZNF683_ENST00000374204.1_Intron|ZNF683_ENST00000349618.3_Intron			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	387					natural killer cell differentiation (GO:0001779)|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(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGATTTCTTCCTGGAACCCAC	0.502																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1159-1161)Gga>Aga		zinc finger protein 683							150.0	130.0	136.0					1																	26688651		692	1591	2283	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688651C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1159G>A	1.37:g.26688651C>T	ENSP00000388792:p.Gly387Arg					ZNF683_ENST00000374204.1_Intron|ZNF683_ENST00000349618.3_Intron|ZNF683_ENST00000403843.1_Missense_Mutation_p.G387R	p.G387R			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	6	1279	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	387					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1159G>A		.	.	.	.	.	.	.	.	.	.	C	14.12	2.441257	0.43326	.	.	ENSG00000176083	ENST00000403843;ENST00000436292	T;T	0.08807	3.05;3.05	3.81	3.81	0.43845	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172628	0.28104	N	0.016588	T	0.24967	0.0606	.	.	.	0.44862	D	0.997874	D	0.89917	1.0	D	0.72625	0.978	T	0.00514	-1.1695	9	0.72032	D	0.01	-1.242	11.5059	0.50466	0.0:1.0:0.0:0.0	.	387	Q8IZ20	ZN683_HUMAN	R	387	ENSP00000384782:G387R;ENSP00000388792:G387R	ENSP00000384782:G387R	G	-	1	0	ZNF683	26561238	0.001000	0.12720	0.118000	0.21660	0.042000	0.13812	0.974000	0.29436	2.427000	0.82271	0.561000	0.74099	GGA		0.502	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		5	19	0	0	0	1	0	5	19				
ARID4B	51742	broad.mit.edu	37	1	235335980	235335980	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:235335980G>A	ENST00000264183.3	-	23	4261	c.3764C>T	c.(3763-3765)gCt>gTt	p.A1255V	ARID4B_ENST00000366603.2_Missense_Mutation_p.A1255V|ARID4B_ENST00000349213.3_Missense_Mutation_p.A1169V|ARID4B-IT1_ENST00000357671.6_RNA	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1255					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATCAATGGAAGCTACTTCAGA	0.318																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(3763-3765)gCt>gTt		AT rich interactive domain 4B (RBP1-like)							64.0	62.0	63.0					1																	235335980		2202	4299	6501	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235335980G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3764C>T	1.37:g.235335980G>A	ENSP00000264183:p.Ala1255Val					ARID4B_ENST00000349213.3_Missense_Mutation_p.A1169V|ARID4B_ENST00000366603.2_Missense_Mutation_p.A1255V	p.A1255V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		23	4261	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1255					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.3764C>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469401	0.96274	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.38077	1.25;1.16;1.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	T	0.59445	-0.7453	10	0.87932	D	0	-15.981	20.047	0.97613	0.0:0.0:1.0:0.0	.	1169;1255	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	V	1169;1255;1255	ENSP00000264184:A1169V;ENSP00000355562:A1255V;ENSP00000264183:A1255V	ENSP00000264183:A1255V	A	-	2	0	ARID4B	233402603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.265000	0.95647	2.821000	0.97095	0.555000	0.69702	GCT		0.318	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		4	19	0	0	0	1	0	4	19				
EPHA3	2042	broad.mit.edu	37	3	89499368	89499368	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:89499368C>T	ENST00000336596.2	+	15	2763	c.2538C>T	c.(2536-2538)ccC>ccT	p.P846P	EPHA3_ENST00000494014.1_Silent_p.P846P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	846	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGCCACCCCCCATGGACTGCC	0.473										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2536-2538)ccC>ccT		EPH receptor A3							77.0	71.0	73.0					3																	89499368		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89499368C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2538C>T	3.37:g.89499368C>T		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Silent_p.P846P	p.P846P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	15	2763	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	846			Protein kinase.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2538C>T	CCDS2922.1																																																																																				0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		14	40	0	0	0	1	0	14	40				
CYP1A1	1543	broad.mit.edu	37	15	75015200	75015200	+	Missense_Mutation	SNP	G	G	C	rs373246855		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:75015200G>C	ENST00000379727.3	-	2	437	c.239C>G	c.(238-240)tCc>tGc	p.S80C	CYP1A1_ENST00000567032.1_Missense_Mutation_p.S80C|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S80C|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S80C|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	80					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CACGGGTGTGGAGCCAATTCG	0.632									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(238-240)tCc>tGc		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						59.0	50.0	53.0					15																	75015200		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75015200G>C	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.239C>G	15.37:g.75015200G>C	ENSP00000369050:p.Ser80Cys					CYP1A1_ENST00000567032.1_Missense_Mutation_p.S80C|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S80C|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S80C|CYP1A1_ENST00000564596.1_Intron	p.S80C			P04798	CP1A1_HUMAN			2	437	-			80					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.239C>G	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	7.573	0.667144	0.14710	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.70282	-0.47;-0.47;-0.47	5.23	-2.92	0.05615	.	0.622890	0.17717	N	0.164385	T	0.67268	0.2875	L	0.49699	1.58	0.09310	N	1	B;B	0.23540	0.087;0.019	B;B	0.33799	0.17;0.05	T	0.62651	-0.6809	10	0.49607	T	0.09	.	18.3333	0.90277	0.0:0.1125:0.8066:0.0809	.	80;80	E7EMT5;P04798	.;CP1A1_HUMAN	C	80	ENSP00000369050:S80C;ENSP00000378488:S80C;ENSP00000378489:S80C	ENSP00000268062:S80C	S	-	2	0	CYP1A1	72802253	0.001000	0.12720	0.026000	0.17262	0.380000	0.30137	0.057000	0.14279	-0.339000	0.08401	0.462000	0.41574	TCC		0.632	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		17	54	0	0	0	1	0	17	54				
MYO18B	84700	broad.mit.edu	37	22	26423371	26423371	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:26423371G>A	ENST00000407587.2	+	43	7603	c.7434G>A	c.(7432-7434)acG>acA	p.T2478T	MYO18B_ENST00000335473.7_Silent_p.T2477T|MYO18B_ENST00000536101.1_Silent_p.T2477T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2477						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTTTGAAACGGAAGAGGCTA	0.557																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7429-7431)acG>acA		myosin XVIIIB							87.0	89.0	88.0					22																	26423371		2001	4153	6154	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423371G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7434G>A	22.37:g.26423371G>A						MYO18B_ENST00000407587.2_Silent_p.T2478T|MYO18B_ENST00000536101.1_Silent_p.T2477T	p.T2477T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7681	+			2477					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7431G>A		.	.	.	.	.	.	.	.	.	.	G	0.025	-1.383690	0.01194	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.17	-10.3	0.00346	.	.	.	.	.	T	0.23054	0.0557	.	.	.	0.20196	N	0.99992	.	.	.	.	.	.	T	0.14924	-1.0455	4	.	.	.	.	7.1325	0.25510	0.6131:0.1993:0.1103:0.0773	.	.	.	.	Q	427	.	.	R	+	2	0	MYO18B	24753371	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	-2.678000	0.00839	-2.360000	0.00610	-2.072000	0.00384	CGG		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		27	68	0	0	0	1	0	27	68				
CLDN16	10686	broad.mit.edu	37	3	190106101	190106101	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:190106101G>A	ENST00000264734.2	+	1	441	c.193G>A	c.(193-195)Gat>Aat	p.D65N	CLDN16_ENST00000456423.1_Missense_Mutation_p.D65N|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	65					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGCCATCCTGATGGGCTGCT	0.507																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(193-195)Gat>Aat		claudin 16							214.0	184.0	194.0					3																	190106101		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190106101G>A	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.193G>A	3.37:g.190106101G>A	ENSP00000264734:p.Asp65Asn					CLDN16_ENST00000456423.1_Missense_Mutation_p.D65N|CLDN16_ENST00000468220.1_Intron	p.D65N	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	1	441	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		65						Missense_Mutation	SNP	ENST00000264734.2	37	c.193G>A	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	6.299	0.423310	0.11928	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.92911	-2.74;-3.13	5.64	1.66	0.24008	.	1.298020	0.05176	N	0.500367	D	0.84817	0.5556	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.70385	-0.4886	10	0.42905	T	0.14	-5.8056	4.634	0.12516	0.2518:0.1627:0.5855:0.0	.	65;65	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	N	65	ENSP00000264734:D65N;ENSP00000414136:D65N	ENSP00000264734:D65N	D	+	1	0	CLDN16	191588795	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.316000	0.19469	0.015000	0.14971	0.460000	0.39030	GAT		0.507	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		37	94	0	0	0	1	0	37	94				
UBE4A	9354	broad.mit.edu	37	11	118235857	118235857	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:118235857C>G	ENST00000431736.2	+	2	134	c.62C>G	c.(61-63)tCc>tGc	p.S21C	UBE4A_ENST00000252108.3_Missense_Mutation_p.S21C					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTTTTGGCTCCCTGGCTGAT	0.458																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(61-63)tCc>tGc		ubiquitination factor E4A							113.0	114.0	114.0					11																	118235857		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118235857C>G	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.62C>G	11.37:g.118235857C>G	ENSP00000387362:p.Ser21Cys					UBE4A_ENST00000431736.2_Missense_Mutation_p.S21C	p.S21C	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	193	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	21						Missense_Mutation	SNP	ENST00000431736.2	37	c.62C>G	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963832	0.92791	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.54866	0.57;0.55	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69479	0.921;0.964	T	0.67856	-0.5562	10	0.87932	D	0	-15.6529	20.8794	0.99867	0.0:1.0:0.0:0.0	.	21;21	Q14139;Q14139-2	UBE4A_HUMAN;.	C	21	ENSP00000252108:S21C;ENSP00000387362:S21C	ENSP00000252108:S21C	S	+	2	0	UBE4A	117741067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.282000	0.78630	2.941000	0.99782	0.655000	0.94253	TCC		0.458	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		12	34	0	0	0	1	0	12	34				
OR6N2	81442	broad.mit.edu	37	1	158747097	158747097	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:158747097G>A	ENST00000339258.1	-	1	328	c.329C>T	c.(328-330)tCt>tTt	p.S110F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTAGCATTCAGACGCTCCCAA	0.463																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(328-330)tCt>tTt		olfactory receptor, family 6, subfamily N, member 2							108.0	107.0	107.0					1																	158747097		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747097G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.329C>T	1.37:g.158747097G>A	ENSP00000344101:p.Ser110Phe						p.S110F	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	328	-	all_hematologic(112;0.0378)		110					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.329C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194737	0.58017	.	.	ENSG00000188340	ENST00000339258	D	0.82619	-1.63	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38058	N	0.001839	D	0.83843	0.5342	M	0.72479	2.2	0.33325	D	0.567895	D	0.57899	0.981	P	0.54174	0.744	D	0.86015	0.1503	10	0.87932	D	0	-17.8003	13.3322	0.60495	0.0:0.1589:0.841:0.0	.	110	Q8NGY6	OR6N2_HUMAN	F	110	ENSP00000344101:S110F	ENSP00000344101:S110F	S	-	2	0	OR6N2	157013721	0.002000	0.14202	1.000000	0.80357	0.965000	0.64279	1.133000	0.31430	2.686000	0.91538	0.650000	0.86243	TCT		0.463	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			22	93	0	0	0	1	0	22	93				
TUBD1	51174	broad.mit.edu	37	17	57955640	57955640	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:57955640G>C	ENST00000592426.1	-	4	593	c.593C>G	c.(592-594)tCa>tGa	p.S198*	TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000376094.4_Nonsense_Mutation_p.S198*|TUBD1_ENST00000539018.1_5'UTR|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Nonsense_Mutation_p.S198*|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.S198*|TUBD1_ENST00000394239.3_Nonsense_Mutation_p.S198*			Q9UJT1	TBD_HUMAN	tubulin, delta 1	198					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GAGGGCGTCTGAAGATCGGTA	0.388																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(592-594)tCa>tGa		tubulin, delta 1							151.0	135.0	140.0					17																	57955640		2203	4300	6503	SO:0001587	stop_gained	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57955640G>C	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.593C>G	17.37:g.57955640G>C	ENSP00000468518:p.Ser198*					TUBD1_ENST00000376094.4_Nonsense_Mutation_p.S198*|TUBD1_ENST00000539018.1_5'UTR|TUBD1_ENST00000592426.1_Nonsense_Mutation_p.S198*|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Nonsense_Mutation_p.S198*|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.S198*	p.S198*	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		5	870	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		198					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Nonsense_Mutation	SNP	ENST00000592426.1	37	c.593C>G	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995808	0.93167	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.5338	19.4091	0.94662	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000320797:S198X	S	-	2	0	TUBD1	55310422	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.471000	0.97696	2.576000	0.86940	0.555000	0.69702	TCA		0.388	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		28	95	0	0	0	1	0	28	95				
TRIP12	9320	broad.mit.edu	37	2	230632274	230632274	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:230632274G>T	ENST00000283943.5	-	41	6153	c.5975C>A	c.(5974-5976)tCc>tAc	p.S1992Y	TRIP12_ENST00000389045.3_Missense_Mutation_p.S1722Y|TRIP12_ENST00000389044.4_Missense_Mutation_p.S2040Y	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1992	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.			SSIEIMREKLLIAAREGQQSFHLS -> QALRYA (in Ref. 5; AAC41731). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTATGATCAGGAAAGATGGAA	0.393																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5974-5976)tCc>tAc		thyroid hormone receptor interactor 12							141.0	127.0	132.0					2																	230632274		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230632274G>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5975C>A	2.37:g.230632274G>T	ENSP00000283943:p.Ser1992Tyr					TRIP12_ENST00000389045.3_Missense_Mutation_p.S1722Y|TRIP12_ENST00000389044.4_Missense_Mutation_p.S2040Y	p.S1992Y	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	41	6153	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1992	SSIEIMREKLLIAAREGQQSFHLS -> QALRYA (in Ref. 2).		HECT.		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5975C>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925739	0.73213	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.61859	0.07;0.07;0.07	5.28	5.28	0.74379	HECT (3);	0.049050	0.85682	D	0.000000	T	0.81912	0.4923	M	0.91510	3.215	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	D	0.85919	0.1445	10	0.87932	D	0	.	19.2835	0.94061	0.0:0.0:1.0:0.0	.	1722;2040;1992	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	Y	1992;1722;2040	ENSP00000283943:S1992Y;ENSP00000373697:S1722Y;ENSP00000373696:S2040Y	ENSP00000283943:S1992Y	S	-	2	0	TRIP12	230340518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.434000	0.97515	2.615000	0.88500	0.462000	0.41574	TCC		0.393	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		6	110	1	0	5.9392e-07	1	6.14027e-07	6	110				
MYH9	4627	broad.mit.edu	37	22	36710351	36710351	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:36710351C>G	ENST00000216181.5	-	13	1623	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	465	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACAGCTGCTCAAACGAGTTC	0.547			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1393-1395)Gag>Cag		myosin, heavy chain 9, non-muscle							135.0	108.0	117.0					22																	36710351		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36710351C>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1393G>C	22.37:g.36710351C>G	ENSP00000216181:p.Glu465Gln						p.E465Q	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			13	1623	-			465			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1393G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819732	0.71028	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.92149	-2.98	5.05	5.05	0.67936	Myosin head, motor domain (3);	0.179749	0.46442	D	0.000281	D	0.97275	0.9109	H	0.98769	4.325	0.80722	D	1	D	0.57899	0.981	P	0.54270	0.747	D	0.99069	1.0833	10	0.87932	D	0	.	18.4598	0.90735	0.0:1.0:0.0:0.0	.	465	P35579	MYH9_HUMAN	Q	329;465	ENSP00000216181:E465Q	ENSP00000216181:E465Q	E	-	1	0	MYH9	35040297	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.524000	0.85096	0.558000	0.71614	GAG		0.547	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	93	0	0	0	1	0	4	93				
KRT79	338785	broad.mit.edu	37	12	53227877	53227877	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:53227877G>C	ENST00000330553.5	-	1	202	c.168C>G	c.(166-168)ggC>ggG	p.G56G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	56	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTGCCAAAGCCACCTGTGC	0.667																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(166-168)ggC>ggG		keratin 79							21.0	29.0	26.0					12																	53227877		2180	4267	6447	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53227877G>C	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.168C>G	12.37:g.53227877G>C							p.G56G	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			1	202	-			56			Head.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.168C>G	CCDS8839.1																																																																																				0.667	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		28	95	0	0	0	1	0	28	95				
FMN2	56776	broad.mit.edu	37	1	240370926	240370926	+	Silent	SNP	C	C	T	rs71170718|rs562038978		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:240370926C>T	ENST00000319653.9	+	5	3044	c.2814C>T	c.(2812-2814)ccC>ccT	p.P938P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	938	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGCGGGAA	0.697																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.P1081P(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2812-2814)ccC>ccT		formin 2							27.0	34.0	31.0					1																	240370926		2203	4299	6502	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370926C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2814C>T	1.37:g.240370926C>T							p.P938P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3044	+	Ovarian(103;0.127)	all_cancers(173;0.013)	938			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2814C>T	CCDS31069.2																																																																																				0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		34	50	0	0	0	1	0	34	50				
GRM3	2913	broad.mit.edu	37	7	86415715	86415715	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:86415715G>A	ENST00000361669.2	+	3	1706	c.607G>A	c.(607-609)Gag>Aag	p.E203K	GRM3_ENST00000394720.2_Missense_Mutation_p.E201K|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E75K|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.E203K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	203					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.E203Q(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGCCATGGCTGAGATCTTGCG	0.582																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			1	Substitution - Missense(1)	p.E203Q(1)	breast(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(607-609)Gag>Aag		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						104.0	91.0	96.0					7																	86415715		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415715G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.607G>A	7.37:g.86415715G>A	ENSP00000355316:p.Glu203Lys					AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.E203K|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.E75K|GRM3_ENST00000394720.2_Missense_Mutation_p.E201K	p.E203K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1706	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		203					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.607G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206407	0.95033	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90652	0.7068	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.994;0.981;0.996	D	0.91013	0.4851	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	75;203;203	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	K	203;75;75;203;201	ENSP00000355316:E203K;ENSP00000405427:E75K;ENSP00000441407:E75K;ENSP00000398767:E203K;ENSP00000378209:E201K	ENSP00000355316:E203K	E	+	1	0	GRM3	86253651	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	GAG		0.582	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			45	94	0	0	0	1	0	45	94				
TRPV6	55503	broad.mit.edu	37	7	142571366	142571366	+	Silent	SNP	G	G	A	rs147746494		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:142571366G>A	ENST00000359396.3	-	13	1868	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	541					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGGCCATCGATGATGGTAA	0.542																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1621-1623)atC>atT		transient receptor potential cation channel, subfamily V, member 6		G		0,4406		0,0,2203	280.0	226.0	244.0		1623	-3.0	0.9	7	dbSNP_134	244	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRPV6	NM_018646.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		541/726	142571366	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571366G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1623C>T	7.37:g.142571366G>A							p.I541I	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			13	1868	-	Melanoma(164;0.059)		541					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.1623C>T	CCDS5874.1																																																																																				0.542	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		112	106	0	0	0	1	0	112	106				
FBXW5	54461	broad.mit.edu	37	9	139837261	139837261	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:139837261C>T	ENST00000325285.3	-	4	565	c.486G>A	c.(484-486)ccG>ccA	p.P162P	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	162					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGGAGTTGTGCGGCCCCAGGA	0.662																																						ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(484-486)ccG>ccA		F-box and WD repeat domain containing 5							64.0	64.0	64.0					9																	139837261		2202	4300	6502	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139837261C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.486G>A	9.37:g.139837261C>T						FBXW5_ENST00000483559.1_5'UTR	p.P162P	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	4	565	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	162					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.486G>A	CCDS7014.1																																																																																				0.662	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		5	100	0	0	0	1	0	5	100				
HYAL1	3373	broad.mit.edu	37	3	50339650	50339650	+	Silent	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:50339650G>T	ENST00000266031.4	-	1	1353	c.738C>A	c.(736-738)atC>atA	p.I246I	HYAL1_ENST00000395144.2_Silent_p.I246I|NAT6_ENST00000443842.1_5'Flank|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000320295.8_Silent_p.I246I|HYAL1_ENST00000457214.2_Silent_p.I64I|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000395143.2_Silent_p.I246I|HYAL1_ENST00000447605.2_Intron|NAT6_ENST00000354862.4_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	246					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGGGCATGTAGATGCTGGGAT	0.617																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(736-738)atC>atA		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						61.0	57.0	59.0					3																	50339650		2203	4300	6503	SO:0001819	synonymous_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50339650G>T	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.738C>A	3.37:g.50339650G>T						HYAL1_ENST00000395143.2_Silent_p.I246I|HYAL1_ENST00000395144.2_Silent_p.I246I|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Silent_p.I64I|HYAL1_ENST00000320295.8_Silent_p.I246I	p.I246I			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1353	-			246					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Silent	SNP	ENST00000266031.4	37	c.738C>A	CCDS2816.1																																																																																				0.617	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			20	63	1	0	3.5997e-14	1	3.83132e-14	20	63				
NVL	4931	broad.mit.edu	37	1	224492497	224492497	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:224492497C>G	ENST00000281701.6	-	8	1025	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	NVL_ENST00000361463.3_Missense_Mutation_p.E150Q|RNU6-1008P_ENST00000384160.1_RNA|NVL_ENST00000340871.4_Missense_Mutation_p.E40Q|NVL_ENST00000469075.1_Missense_Mutation_p.E165Q|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000391875.2_Missense_Mutation_p.E150Q	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	256						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATCTGGAATTCTAACCCCCTG	0.318																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(766-768)Gaa>Caa		nuclear VCP-like							117.0	121.0	120.0					1																	224492497		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224492497C>G	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.766G>C	1.37:g.224492497C>G	ENSP00000281701:p.Glu256Gln					NVL_ENST00000469075.1_Missense_Mutation_p.E165Q|NVL_ENST00000391875.2_Missense_Mutation_p.E150Q|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000340871.4_Missense_Mutation_p.E40Q|NVL_ENST00000361463.3_Missense_Mutation_p.E150Q	p.E256Q	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	8	1025	-			256					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.766G>C	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.381169|1.381169	0.24944|0.24944	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000340871;ENST00000361463;ENST00000492281;ENST00000488718;ENST00000436927|ENST00000469968	D;D;D;D;D|.	0.95588|.	-3.6;-3.61;-3.57;-3.43;-3.75|.	5.35|5.35	4.37|4.37	0.52481|0.52481	.|.	0.152499|.	0.64402|.	D|.	0.000020|.	T|T	0.56934|0.56934	0.2019|0.2019	L|L	0.38953|0.38953	1.18|1.18	0.80722|0.80722	D|D	1|1	B;B;B|.	0.23442|.	0.003;0.017;0.085|.	B;B;B|.	0.27170|.	0.011;0.017;0.077|.	T|T	0.52533|0.52533	-0.8563|-0.8563	10|5	0.54805|.	T|.	0.06|.	-8.2345|-8.2345	13.8494|13.8494	0.63487|0.63487	0.0:0.8475:0.1525:0.0|0.0:0.8475:0.1525:0.0	.|.	40;165;256|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	Q|T	256;150;165;40;150;161;165;152|138	ENSP00000281701:E256Q;ENSP00000375747:E150Q;ENSP00000417826:E165Q;ENSP00000341362:E40Q;ENSP00000354779:E150Q|.	ENSP00000281701:E256Q|.	E|R	-|-	1|2	0|0	NVL|NVL	222559120|222559120	0.999000|0.999000	0.42202|0.42202	0.166000|0.166000	0.22797|0.22797	0.069000|0.069000	0.16628|0.16628	4.700000|4.700000	0.61803|0.61803	2.500000|2.500000	0.84329|0.84329	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.318	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		8	148	0	0	0	1	0	8	148				
MUC17	140453	broad.mit.edu	37	7	100678400	100678400	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100678400G>C	ENST00000306151.4	+	3	3767	c.3703G>C	c.(3703-3705)Gag>Cag	p.E1235Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1235	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3703-3705)Gag>Cag		mucin 17, cell surface associated							304.0	291.0	296.0					7																	100678400		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678400G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3703G>C	7.37:g.100678400G>C	ENSP00000302716:p.Glu1235Gln						p.E1235Q	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3767	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1235			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3703G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	2.547	-0.305045	0.05495	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.471	0.471	0.16752	.	.	.	.	.	T	0.04543	0.0124	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.47156	-0.9139	8	0.15499	T	0.54	.	.	.	.	.	1235	Q685J3	MUC17_HUMAN	Q	1235	ENSP00000302716:E1235Q	ENSP00000302716:E1235Q	E	+	1	0	MUC17	100465120	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	0.216000	0.17585	0.558000	0.29135	0.134000	0.15878	GAG		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		188	488	0	0	0	1	0	188	488				
MAST4	375449	broad.mit.edu	37	5	66460512	66460512	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:66460512G>C	ENST00000403625.2	+	29	5800	c.5505G>C	c.(5503-5505)gtG>gtC	p.V1835V	MAST4_ENST00000404260.3_Silent_p.V1838V|MAST4_ENST00000403666.1_Silent_p.V1646V|MAST4_ENST00000405643.1_Silent_p.V1656V|MAST4_ENST00000261569.7_Silent_p.V1641V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1838						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTGGTGACGTGAGGGCCTCTG	0.552																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5512-5514)gtG>gtC		microtubule associated serine/threonine kinase family member 4							60.0	66.0	64.0					5																	66460512		1988	4150	6138	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460512G>C	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5505G>C	5.37:g.66460512G>C						MAST4_ENST00000403666.1_Silent_p.V1646V|MAST4_ENST00000261569.7_Silent_p.V1641V|MAST4_ENST00000405643.1_Silent_p.V1656V|MAST4_ENST00000403625.2_Silent_p.V1835V	p.V1838V			O15021	MAST4_HUMAN		Lung(70;0.011)	29	5822	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1838					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5514G>C	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.706646	0.00719	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.01	3.25	0.37280	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20009	-1.0288	4	.	.	.	-0.0334	6.0027	0.19529	0.1581:0.0:0.6912:0.1507	.	.	.	.	Q	892	.	.	E	+	1	0	MAST4	66496268	0.023000	0.18921	0.003000	0.11579	0.013000	0.08279	0.617000	0.24359	0.707000	0.31934	-0.251000	0.11542	GAG		0.552	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			3	78	0	0	0	1	0	3	78				
HERC1	8925	broad.mit.edu	37	15	63922762	63922762	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:63922762C>T	ENST00000443617.2	-	69	12956	c.12869G>A	c.(12868-12870)gGa>gAa	p.G4290E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4290					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATGATTACTCCAGCCAGGAC	0.488																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(12868-12870)gGa>gAa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							154.0	156.0	155.0					15																	63922762		1975	4161	6136	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63922762C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12869G>A	15.37:g.63922762C>T	ENSP00000390158:p.Gly4290Glu						p.G4290E	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			69	12956	-			4290					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.12869G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106195	0.77096	.	.	ENSG00000103657	ENST00000443617	D	0.82081	-1.57	5.77	5.77	0.91146	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.84515	0.5489	L	0.43152	1.355	0.80722	D	1	P	0.52577	0.954	P	0.50860	0.652	T	0.82678	-0.0338	10	0.38643	T	0.18	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	4290	Q15751	HERC1_HUMAN	E	4290	ENSP00000390158:G4290E	ENSP00000390158:G4290E	G	-	2	0	HERC1	61709815	1.000000	0.71417	0.998000	0.56505	0.291000	0.27294	7.776000	0.85560	2.884000	0.98904	0.655000	0.94253	GGA		0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		62	176	0	0	0	1	0	62	176				
FAM208B	54906	broad.mit.edu	37	10	5790579	5790579	+	Missense_Mutation	SNP	C	C	T	rs200385091		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:5790579C>T	ENST00000328090.5	+	15	5820	c.5195C>T	c.(5194-5196)aCg>aTg	p.T1732M		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1732																	GCCATCCACACGCTGCAAGAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		22842	0.0		0.0	False		,,,				2504	0.001					ENST00000328090.5																			0											c.(5194-5196)aCg>aTg		family with sequence similarity 208, member B		C	MET/THR	1,4163		0,1,2081	65.0	64.0	65.0		5195	0.0	0.0	10		65	0,8436		0,0,4218	yes	missense	FAM208B	NM_017782.4	81	0,1,6299	TT,TC,CC		0.0,0.024,0.0079	benign	1732/2431	5790579	1,12599	2082	4218	6300	SO:0001583	missense	54906							g.chr10:5790579C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5195C>T	10.37:g.5790579C>T	ENSP00000328426:p.Thr1732Met						p.T1732M	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	5820	+			1732					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5195C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	8.720	0.914164	0.17907	2.4E-4	0.0	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04454	3.62	5.58	0.00239	0.14050	.	1.529920	0.03734	N	0.253900	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.43196	-0.9406	10	0.22706	T	0.39	.	3.5306	0.07775	0.1663:0.319:0.0:0.5147	.	1732	Q5VWN6	F208B_HUMAN	M	1732;927	ENSP00000328426:T1732M	ENSP00000328426:T1732M	T	+	2	0	C10orf18	5830585	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.073000	0.03430	0.040000	0.15660	-0.253000	0.11424	ACG		0.488	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		25	58	0	0	0	1	0	25	58				
DGCR8	54487	broad.mit.edu	37	22	20094894	20094894	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:20094894C>T	ENST00000351989.3	+	12	2526	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	DGCR8_ENST00000407755.1_Silent_p.G666G|DGCR8_ENST00000383024.2_Silent_p.G666G	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	699	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCATGTATGGCCGTGAGAGCA	0.552																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2095-2097)ggC>ggT		DGCR8 microprocessor complex subunit							108.0	94.0	99.0					22																	20094894		2203	4300	6503	SO:0001819	synonymous_variant	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20094894C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.2097C>T	22.37:g.20094894C>T						DGCR8_ENST00000383024.2_Silent_p.G666G|DGCR8_ENST00000407755.1_Silent_p.G666G	p.G699G	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			12	2526	+	Colorectal(54;0.0993)		699			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	c.2097C>T	CCDS13773.1																																																																																				0.552	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			4	153	0	0	0	1	0	4	153				
SAGE1	55511	broad.mit.edu	37	X	134994509	134994509	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:134994509G>C	ENST00000370709.3	+	18	2551	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q	SAGE1_ENST00000324447.3_Missense_Mutation_p.E851Q|SAGE1_ENST00000535938.1_Missense_Mutation_p.E851Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.E475Q			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	851						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTTGCTTGAAGAGGTACAAGG	0.308																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2551-2553)Gag>Cag		sarcoma antigen 1							101.0	98.0	99.0					X																	134994509		2202	4300	6502	SO:0001583	missense	55511							g.chrX:134994509G>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2551G>C	X.37:g.134994509G>C	ENSP00000359743:p.Glu851Gln					SAGE1_ENST00000370709.3_Missense_Mutation_p.E851Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.E475Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.E851Q	p.E851Q	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			19	2718	+	Acute lymphoblastic leukemia(192;0.000127)		851					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2551G>C	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535421	0.27475	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.32515	1.45;1.45;1.48;1.45	2.31	0.243	0.15503	.	0.339835	0.29403	U	0.012247	T	0.36468	0.0968	L	0.41573	1.285	0.26126	N	0.980486	D;D	0.64830	0.99;0.994	D;P	0.68621	0.959;0.87	T	0.10428	-1.0630	10	0.41790	T	0.15	.	6.024	0.19644	0.1332:0.1955:0.6713:0.0	.	475;851	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	Q	851;851;475;851	ENSP00000323191:E851Q;ENSP00000445959:E851Q;ENSP00000438276:E475Q;ENSP00000359743:E851Q	ENSP00000323191:E851Q	E	+	1	0	SAGE1	134822175	0.546000	0.26457	0.043000	0.18650	0.356000	0.29392	1.433000	0.34947	0.165000	0.19558	0.179000	0.17066	GAG		0.308	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		58	45	0	0	0	1	0	58	45				
TAF5L	27097	broad.mit.edu	37	1	229738001	229738001	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:229738001C>G	ENST00000366676.1	-	3	912	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	TAF5L_ENST00000258281.2_Missense_Mutation_p.E305Q|TAF5L_ENST00000366675.3_Missense_Mutation_p.E305Q			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	305					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGGTGGGGCTCTGATTTTAAC	0.468																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(913-915)Gag>Cag		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							79.0	70.0	73.0					1																	229738001		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738001C>G	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.913G>C	1.37:g.229738001C>G	ENSP00000355636:p.Glu305Gln					TAF5L_ENST00000258281.2_Missense_Mutation_p.E305Q|TAF5L_ENST00000366676.1_Missense_Mutation_p.E305Q	p.E305Q	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	1001	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	305					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.913G>C	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193930	0.22037	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58940	0.3;0.3;0.72	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.264669	0.43579	D	0.000560	T	0.53883	0.1824	L	0.57536	1.79	0.35430	D	0.793951	P;P	0.41848	0.763;0.651	B;B	0.36504	0.226;0.058	T	0.60255	-0.7299	10	0.14656	T	0.56	-18.2482	20.0291	0.97531	0.0:1.0:0.0:0.0	.	305;305	O75529-2;O75529	.;TAF5L_HUMAN	Q	305	ENSP00000355636:E305Q;ENSP00000258281:E305Q;ENSP00000355635:E305Q	ENSP00000258281:E305Q	E	-	1	0	TAF5L	227804624	0.997000	0.39634	0.947000	0.38551	0.998000	0.95712	3.239000	0.51360	2.738000	0.93877	0.650000	0.86243	GAG		0.468	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		16	44	0	0	0	1	0	16	44				
IGKV4-1	28908	broad.mit.edu	37	2	89185579	89185579	+	RNA	SNP	C	C	T	rs529546131		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:89185579C>T	ENST00000390243.2	+	0	448							P06312	KV401_HUMAN	immunoglobulin kappa variable 4-1						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TCAGTGGCAGCGGGTCTGGGA	0.527																																						ENST00000390243.2																			0																				49.0	49.0	49.0					2																	89185579		1871	4083	5954			28908							g.chr2:89185579C>T	Z00023		2p11.2	2012-02-08			ENSG00000211598	ENSG00000211598		"""Immunoglobulins / IGK locus"""	5834	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV41, B3		P06312	OTTHUMG00000151533		2.37:g.89185579C>T														0	448	+									RNA	SNP	ENST00000390243.2	37																																																																																						0.527	IGKV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323037.2	NG_000834		26	63	0	0	0	1	0	26	63				
WDR59	79726	broad.mit.edu	37	16	74972117	74972117	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:74972117G>A	ENST00000262144.6	-	8	712	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	194										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCAGGCCATGGATTTTGGAGA	0.493																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(580-582)atC>atT		WD repeat domain 59							157.0	146.0	150.0					16																	74972117		2198	4300	6498	SO:0001819	synonymous_variant	79726							g.chr16:74972117G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.582C>T	16.37:g.74972117G>A							p.I194I	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			8	712	-			194					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	c.582C>T	CCDS32488.1																																																																																				0.493	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		28	127	0	0	0	1	0	28	127				
MYCT1	80177	broad.mit.edu	37	6	153043059	153043059	+	Missense_Mutation	SNP	C	C	T	rs17852097		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:153043059C>T	ENST00000367245.5	+	2	387	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	127			R -> G (in dbSNP:rs17852097). {ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGGATTTTACCGCCACAGTGG	0.517																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(379-381)Cgc>Tgc		myc target 1							114.0	110.0	112.0					6																	153043059		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043059C>T	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.379C>T	6.37:g.153043059C>T	ENSP00000356214:p.Arg127Cys					MYCT1_ENST00000529453.1_Intron	p.R127C	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	387	+		Ovarian(120;0.0654)	127		R -> G (in dbSNP:rs17852097).			Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.379C>T	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033033	0.93575	.	.	ENSG00000120279	ENST00000367245	T	0.43294	0.95	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63363	-0.6654	10	0.87932	D	0	-24.7228	20.0096	0.97446	0.0:1.0:0.0:0.0	.	127	Q8N699	MYCT1_HUMAN	C	127	ENSP00000356214:R127C	ENSP00000356214:R127C	R	+	1	0	MYCT1	153084752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.724000	0.54962	2.727000	0.93392	0.579000	0.79373	CGC		0.517	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		37	86	0	0	0	1	0	37	86				
PPP6R1	22870	broad.mit.edu	37	19	55752345	55752345	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:55752345C>T	ENST00000412770.2	-	10	1830	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	PPP6R1_ENST00000587283.1_Missense_Mutation_p.E422K	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	422					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						ATGGGCGTCTCAGGGCTGCTG	0.587																																						ENST00000412770.2																			0				breast(1)	1						c.(1264-1266)Gag>Aag		protein phosphatase 6, regulatory subunit 1							53.0	58.0	56.0					19																	55752345		2086	4218	6304	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55752345C>T	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1264G>A	19.37:g.55752345C>T	ENSP00000414202:p.Glu422Lys					PPP6R1_ENST00000587283.1_Missense_Mutation_p.E422K	p.E422K	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			10	1830	-			422					Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.1264G>A	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284338	0.40394	.	.	ENSG00000105063	ENST00000412770	T	0.66099	-0.19	4.98	3.94	0.45596	.	0.210046	0.31145	N	0.008167	T	0.59004	0.2162	M	0.71036	2.16	0.23180	N	0.998168	B	0.15473	0.013	B	0.23018	0.043	T	0.48139	-0.9061	10	0.16896	T	0.51	-16.0333	12.5049	0.55975	0.0:0.9168:0.0:0.0832	.	422	Q9UPN7	PP6R1_HUMAN	K	422	ENSP00000414202:E422K	ENSP00000414202:E422K	E	-	1	0	PPP6R1	60444157	0.858000	0.29795	0.403000	0.26384	0.039000	0.13416	1.568000	0.36418	1.241000	0.43820	0.462000	0.41574	GAG		0.587	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		4	21	0	0	0	1	0	4	21				
HMCN1	83872	broad.mit.edu	37	1	186050343	186050343	+	Silent	SNP	G	G	A	rs532472487		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTAGTGCCGCCAATTATCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8602-8604)ccG>ccA		hemicentin 1							164.0	161.0	162.0					1																	186050343		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186050343G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8604G>A	1.37:g.186050343G>A						HMCN1_ENST00000367492.2_Silent_p.P2868P	p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			56	8833	+			2868			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8604G>A	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	195	0	0	0	1	0	4	195				
RYR2	6262	broad.mit.edu	37	1	237777403	237777403	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:237777403C>T	ENST00000366574.2	+	37	5292	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W	RYR2_ENST00000542537.1_Missense_Mutation_p.R1643W|RYR2_ENST00000360064.6_Missense_Mutation_p.R1657W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1659	4 X approximate repeats.				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)			TCACACTCTCCGGCTCTACTC	0.498																																						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.(4975-4977)Cgg>Tgg		ryanodine receptor 2 (cardiac)							65.0	65.0	65.0					1																	237777403		1996	4167	6163	SO:0001583	missense	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.chr1:237777403C>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.4975C>T	1.37:g.237777403C>T	ENSP00000355533:p.Arg1659Trp					RYR2_ENST00000542537.1_Missense_Mutation_p.R1643W|RYR2_ENST00000360064.6_Missense_Mutation_p.R1657W	p.R1659W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5292	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1659			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4975C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383260	0.61845	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96856	-4.15;-4.12;-4.15	5.56	4.64	0.57946	.	0.000000	0.56097	D	0.000024	D	0.97012	0.9024	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.97321	0.9944	10	0.87932	D	0	.	13.257	0.60085	0.4089:0.5911:0.0:0.0	.	1659	Q92736	RYR2_HUMAN	W	1659;1657;1643	ENSP00000355533:R1659W;ENSP00000353174:R1657W;ENSP00000443798:R1643W	ENSP00000353174:R1657W	R	+	1	2	RYR2	235844026	0.964000	0.33143	0.672000	0.29872	0.976000	0.68499	1.796000	0.38794	1.329000	0.45376	0.655000	0.94253	CGG		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	39	0	0	0	1	0	12	39				
OR2A7	401427	broad.mit.edu	37	7	143955990	143955990	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:143955990G>A	ENST00000493325.1	-	1	825	c.732C>T	c.(730-732)ctC>ctT	p.L244L	OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CAATCACACAGAGGTGGGAGA	0.453																																						ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(730-732)ctC>ctT		olfactory receptor, family 2, subfamily A, member 7							200.0	203.0	202.0					7																	143955990		2203	4300	6503	SO:0001819	synonymous_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143955990G>A		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.732C>T	7.37:g.143955990G>A						RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA	p.L244L	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			1	825	-	Melanoma(164;0.14)		244					B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	c.732C>T	CCDS55177.1																																																																																				0.453	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			39	417	0	0	0	1	0	39	417				
ITGB6	3694	broad.mit.edu	37	2	160983072	160983072	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:160983072G>A	ENST00000283249.2	-	11	1938	c.1701C>T	c.(1699-1701)agC>agT	p.S567S	ITGB6_ENST00000428609.2_Silent_p.S525S|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Silent_p.S567S	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	567	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAGTCCAGCCGCTCCTGCACA	0.567																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1699-1701)agC>agT		integrin, beta 6							82.0	78.0	79.0					2																	160983072		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160983072G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1701C>T	2.37:g.160983072G>A						ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Silent_p.S567S|ITGB6_ENST00000428609.2_Silent_p.S525S	p.S567S			P18564	ITB6_HUMAN			11	1938	-			567			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.1701C>T	CCDS2212.1																																																																																				0.567	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		31	91	0	0	0	1	0	31	91				
C9orf153	389766	broad.mit.edu	37	9	88842265	88842265	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:88842265G>C	ENST00000376001.3	-	4	369	c.289C>G	c.(289-291)Cca>Gca	p.P97A	C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	97										breast(1)|lung(1)	2						tttatttttggagatggggtc	0.358																																						ENST00000376001.3																			0				breast(1)|lung(1)	2						c.(289-291)Cca>Gca		chromosome 9 open reading frame 153							27.0	28.0	28.0					9																	88842265		2200	4296	6496	SO:0001583	missense	389766							g.chr9:88842265G>C		CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.289C>G	9.37:g.88842265G>C	ENSP00000365169:p.Pro97Ala					C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	p.P97A	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN			4	369	-			97					Q5TBE4	Missense_Mutation	SNP	ENST00000376001.3	37	c.289C>G	CCDS35055.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727028	0.30593	.	.	ENSG00000187753	ENST00000376001	.	.	.	0.526	0.526	0.17078	.	.	.	.	.	T	0.18130	0.0435	N	0.14661	0.345	0.09310	N	1	P	0.35481	0.504	B	0.29598	0.104	T	0.15037	-1.0451	7	0.87932	D	0	2.5828	.	.	.	.	97	Q5TBE3	CI153_HUMAN	A	97	.	ENSP00000365169:P97A	P	-	1	0	C9orf153	88032085	0.006000	0.16342	0.032000	0.17829	0.539000	0.34962	1.026000	0.30103	0.544000	0.28883	0.313000	0.20887	CCA		0.358	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052913.1	NM_001010907		18	24	0	0	0	1	0	18	24				
TUBGCP6	85378	broad.mit.edu	37	22	50656375	50656375	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:50656375G>A	ENST00000248846.5	-	24	5444	c.5340C>T	c.(5338-5340)ttC>ttT	p.F1780F	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1780					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTAGTACTTGAAGGTGTTGT	0.657																																						ENST00000248846.5																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(5338-5340)ttC>ttT		tubulin, gamma complex associated protein 6							24.0	26.0	25.0					22																	50656375		2192	4286	6478	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656375G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5340C>T	22.37:g.50656375G>A						TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR	p.F1780F			Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	24	5444	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1780					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.5340C>T	CCDS14087.1																																																																																				0.657	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	108	0	0	0	1	0	4	108				
PPARGC1B	133522	broad.mit.edu	37	5	149206434	149206434	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:149206434G>C	ENST00000309241.5	+	3	483	c.451G>C	c.(451-453)Gac>Cac	p.D151H	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D126H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D151H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D151H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	151					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCTGAGGTGGACGAGCTCTC	0.612																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(451-453)Gac>Cac		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							43.0	50.0	48.0					5																	149206434		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149206434G>C	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.451G>C	5.37:g.149206434G>C	ENSP00000312649:p.Asp151His					PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D151H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D126H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D151H	p.D151H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	483	+			151					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.451G>C	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039959	0.55003	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.13538	2.66;2.58;2.6;2.71	5.27	5.27	0.74061	.	0.097389	0.64402	D	0.000001	T	0.35393	0.0930	L	0.55481	1.735	0.54753	D	0.999982	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.998;0.999	D;D;D;D;D	0.83275	0.943;0.943;0.996;0.945;0.943	T	0.03103	-1.1072	10	0.59425	D	0.04	-14.2224	18.9003	0.92440	0.0:0.0:1.0:0.0	.	130;130;151;151;151	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	151;151;151;126	ENSP00000353638:D151H;ENSP00000377855:D151H;ENSP00000312649:D151H;ENSP00000384403:D126H	ENSP00000312649:D151H	D	+	1	0	PPARGC1B	149186627	1.000000	0.71417	0.750000	0.31169	0.126000	0.20510	7.223000	0.78033	2.466000	0.83321	0.650000	0.86243	GAC		0.612	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		18	80	0	0	0	1	0	18	80				
SIM1	6492	broad.mit.edu	37	6	100838266	100838266	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:100838266T>G	ENST00000369208.3	-	12	3054	c.2272A>C	c.(2272-2274)Aca>Cca	p.T758P	SIM1_ENST00000262901.4_Missense_Mutation_p.T758P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	758	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATAACAGATGTTCCCTTGTGT	0.393																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(2272-2274)Aca>Cca		single-minded family bHLH transcription factor 1							147.0	144.0	145.0					6																	100838266		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838266T>G	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2272A>C	6.37:g.100838266T>G	ENSP00000358210:p.Thr758Pro					SIM1_ENST00000262901.4_Missense_Mutation_p.T758P	p.T758P			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	3054	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	758			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.2272A>C	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993524	0.35131	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04234	3.67;3.67	6.1	6.1	0.99115	Single-minded, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	N	0.14661	0.345	0.58432	D	0.999998	B	0.12013	0.005	B	0.09377	0.004	T	0.49163	-0.8968	10	0.87932	D	0	.	16.686	0.85306	0.0:0.0:0.0:1.0	.	758	P81133	SIM1_HUMAN	P	758	ENSP00000358210:T758P;ENSP00000262901:T758P	ENSP00000262901:T758P	T	-	1	0	SIM1	100944987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.767000	0.62286	2.340000	0.79590	0.528000	0.53228	ACA		0.393	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		28	113	0	0	0	1	0	28	113				
C19orf26	255057	broad.mit.edu	37	19	1235876	1235876	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:1235876C>T	ENST00000382477.2	-	3	403	c.129G>A	c.(127-129)gtG>gtA	p.V43V	C19orf26_ENST00000590083.1_Silent_p.V49V|AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000215376.6_Silent_p.V43V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	43						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATCACCACCACCAGCAGCA	0.667										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(145-147)gtG>gtA		chromosome 19 open reading frame 26							158.0	126.0	137.0					19																	1235876		2203	4300	6503	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1235876C>T	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.129G>A	19.37:g.1235876C>T		HNSCC(14;0.022)				C19orf26_ENST00000382477.2_Silent_p.V43V|C19orf26_ENST00000215376.6_Silent_p.V43V	p.V49V			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	439	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	43					O43385	Silent	SNP	ENST00000382477.2	37	c.147G>A																																																																																					0.667	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		39	147	0	0	0	1	0	39	147				
FSHR	2492	broad.mit.edu	37	2	49195904	49195904	+	Missense_Mutation	SNP	C	C	T	rs372147824		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:49195904C>T	ENST00000406846.2	-	9	906	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.A237T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	263					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.A263T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCCATGAGGGCGACAAGCTTT	0.498									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			1	Substitution - Missense(1)	p.A263T(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(787-789)Gcc>Acc		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	C	THR/ALA,THR/ALA	0,4406		0,0,2203	96.0	92.0	93.0		787,709	-2.0	0.0	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FSHR	NM_000145.3,NM_181446.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	263/696,237/670	49195904	1,13005	2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195904C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.787G>A	2.37:g.49195904C>T	ENSP00000384708:p.Ala263Thr					FSHR_ENST00000304421.4_Missense_Mutation_p.A237T|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR	p.A263T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	906	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	263					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.787G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	9.225	1.034385	0.19590	0.0	1.16E-4	ENSG00000170820	ENST00000406846;ENST00000304421	T;T	0.70399	-0.48;-0.48	5.45	-2.04	0.07343	.	1.520870	0.03596	N	0.232651	T	0.53642	0.1809	L	0.28192	0.835	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.19647	-1.0299	9	.	.	.	.	4.6356	0.12523	0.3824:0.3261:0.0:0.2915	.	237;263	Q05AH0;P23945	.;FSHR_HUMAN	T	263;237	ENSP00000384708:A263T;ENSP00000306780:A237T	.	A	-	1	0	FSHR	49049408	0.000000	0.05858	0.000000	0.03702	0.614000	0.37383	-0.004000	0.12878	-0.578000	0.05959	0.655000	0.94253	GCC		0.498	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			22	69	0	0	0	1	0	22	69				
RABEP1	9135	broad.mit.edu	37	17	5238511	5238511	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:5238511C>T	ENST00000546142.2	+	4	587	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F	RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000262477.6_Missense_Mutation_p.L134F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L91F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L134F|RABEP1_ENST00000408982.2_Missense_Mutation_p.L134F			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	134					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGTTCCACCTTAGGCTGGA	0.423																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(400-402)Ctt>Ttt		rabaptin, RAB GTPase binding effector protein 1							72.0	67.0	69.0					17																	5238511		1881	4115	5996	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5238511C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.400C>T	17.37:g.5238511C>T	ENSP00000437701:p.Leu134Phe					RABEP1_ENST00000546142.2_Missense_Mutation_p.L134F|RABEP1_ENST00000408982.2_Missense_Mutation_p.L134F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L134F|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.L91F	p.L134F	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			4	624	+			134					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.400C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494545	0.64186	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.48836	0.81;0.8;0.81;0.8;0.83	5.92	5.92	0.95590	Rabaptin coiled-coil domain (1);	0.285757	0.39146	N	0.001445	T	0.35335	0.0928	N	0.14661	0.345	0.39692	D	0.971054	B;B;B;B;B;B	0.32010	0.302;0.351;0.351;0.351;0.145;0.302	B;B;B;B;B;B	0.29663	0.064;0.105;0.105;0.105;0.064;0.064	T	0.28004	-1.0057	10	0.54805	T	0.06	-0.3524	19.2962	0.94122	0.0:1.0:0.0:0.0	.	91;91;134;134;134;134	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	F	134;134;134;134;134;91	ENSP00000262477:L134F;ENSP00000386150:L134F;ENSP00000437701:L134F;ENSP00000339569:L134F;ENSP00000445408:L91F	ENSP00000262477:L134F	L	+	1	0	RABEP1	5179235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.695000	0.68279	2.795000	0.96236	0.655000	0.94253	CTT		0.423	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		17	50	0	0	0	1	0	17	50				
NRXN3	9369	broad.mit.edu	37	14	79434581	79434581	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:79434581C>G	ENST00000554719.1	+	11	2406	c.1915C>G	c.(1915-1917)Cga>Gga	p.R639G	NRXN3_ENST00000335750.5_Missense_Mutation_p.R639G	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	245					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGTGGCCTCTCGAGATGGCTT	0.517																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1915-1917)Cga>Gga		neurexin 3							130.0	114.0	120.0					14																	79434581		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434581C>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1915C>G	14.37:g.79434581C>G	ENSP00000451648:p.Arg639Gly					NRXN3_ENST00000335750.5_Missense_Mutation_p.R639G	p.R639G	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2406	+		Renal(4;0.00876)	245					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1915C>G	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749209	0.69533	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76186	-1.0;-1.0	6.03	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	.	.	.	0.58432	D	0.999995	D;D	0.89917	1.0;0.965	D;P	0.91635	0.999;0.863	D	0.87739	0.2584	8	.	.	.	.	16.9563	0.86260	0.1284:0.8716:0.0:0.0	.	1012;639	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	G	1012;1001;639;639	ENSP00000451648:R639G;ENSP00000338349:R639G	.	R	+	1	2	NRXN3	78504334	0.893000	0.30496	0.999000	0.59377	0.943000	0.58893	1.838000	0.39211	1.526000	0.49068	0.655000	0.94253	CGA		0.517	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		37	74	0	0	0	1	0	37	74				
SALL3	27164	broad.mit.edu	37	18	76754481	76754481	+	Silent	SNP	G	G	A	rs533022401	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:76754481G>A	ENST00000537592.2	+	2	2490	c.2490G>A	c.(2488-2490)ccG>ccA	p.P830P	SALL3_ENST00000536229.3_Silent_p.P697P|SALL3_ENST00000575389.2_Silent_p.P830P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	830					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGTCCTGCCCGCCCTCCCCGC	0.642																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2089-2091)ccG>ccA		spalt-like transcription factor 3							25.0	30.0	29.0					18																	76754481		2199	4298	6497	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754481G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2490G>A	18.37:g.76754481G>A						SALL3_ENST00000575389.2_Silent_p.P830P|SALL3_ENST00000537592.2_Silent_p.P830P	p.P697P			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2800	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	830					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2091G>A	CCDS12013.1																																																																																				0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		14	40	0	0	0	1	0	14	40				
VCAM1	7412	broad.mit.edu	37	1	101194799	101194799	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:101194799G>A	ENST00000294728.2	+	5	1166	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.L293L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	355	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACAGCCCTCTGAGCGGGAAGG	0.522																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1063-1065)ctG>ctA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						107.0	108.0	107.0					1																	101194799		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194799G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1065G>A	1.37:g.101194799G>A						VCAM1_ENST00000370119.4_Silent_p.L293L|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron	p.L355L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1166	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	355			Ig-like C2-type 4.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1065G>A	CCDS773.1																																																																																				0.522	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		27	106	0	0	0	1	0	27	106				
SNHG14	104472715	broad.mit.edu	37	15	25463797	25463797	+	RNA	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:25463797G>C	ENST00000424208.1	+	0	2994				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGTCCTGAAGAGAGGTGATG	0.522																																						ENST00000424208.1																			0																				397.0	406.0	403.0					15																	25463797		876	1989	2865			104472715							g.chr15:25463797G>C			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.25463797G>C						SNHG14_ENST00000453082.2_RNA|SNHG14_ENST00000365067.1_RNA		NR_003305.1						0	2994	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.522	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			130	413	0	0	0	1	0	130	413				
MAP4K1	11184	broad.mit.edu	37	19	39090609	39090609	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:39090609G>A	ENST00000591517.1	-	22	1653	c.1625C>T	c.(1624-1626)aCt>aTt	p.T542I	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.T538I|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.T542I|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	542	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACCCACGTAGTCCGGCTAGG	0.602																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1624-1626)aCt>aTt		mitogen-activated protein kinase kinase kinase kinase 1							119.0	126.0	124.0					19																	39090609		2072	4211	6283	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090609G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1625C>T	19.37:g.39090609G>A	ENSP00000465039:p.Thr542Ile					MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.T538I|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.T542I|CTB-186G2.1_ENST00000589557.1_RNA	p.T542I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		22	1653	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		542			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1625C>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	18.34	3.603440	0.66445	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.03860	3.78	4.78	4.78	0.61160	Citron-like (3);	0.139208	0.48767	D	0.000174	T	0.16642	0.0400	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.65874	0.732;0.939	T	0.00094	-1.2079	10	0.87932	D	0	.	14.8777	0.70507	0.0:0.0:1.0:0.0	.	542;542	Q92918-2;Q92918	.;M4K1_HUMAN	I	542	ENSP00000380066:T542I	ENSP00000221409:T542I	T	-	2	0	MAP4K1	43782449	1.000000	0.71417	0.980000	0.43619	0.981000	0.71138	4.738000	0.62073	2.501000	0.84356	0.555000	0.69702	ACT		0.602	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		47	158	0	0	0	1	0	47	158				
CAND1	55832	broad.mit.edu	37	12	67706499	67706499	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:67706499G>A	ENST00000545606.1	+	15	4019	c.3582G>A	c.(3580-3582)ctG>ctA	p.L1194L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1194					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGAGTCCACTGATGAGTGAAT	0.428																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3580-3582)ctG>ctA		cullin-associated and neddylation-dissociated 1							111.0	95.0	100.0					12																	67706499		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67706499G>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3582G>A	12.37:g.67706499G>A							p.L1194L	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	15	4019	+			1194					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.3582G>A	CCDS8977.1																																																																																				0.428	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		22	63	0	0	0	1	0	22	63				
CROCC	9696	broad.mit.edu	37	1	17272769	17272769	+	Missense_Mutation	SNP	G	G	A	rs200576809	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:17272769G>A	ENST00000375541.5	+	16	2221	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCTGGCCGCGTGGAGCTCGA	0.632													g|||	5	0.000998403	0.0	0.0043	5008	,	,		26382	0.0		0.002	False		,,,				2504	0.0					ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2152-2154)Gtg>Atg		ciliary rootlet coiled-coil, rootletin		G	MET/VAL	1,4405		0,1,2202	32.0	30.0	31.0		2152	3.2	1.0	1		31	12,8588	6.4+/-24.3	0,12,4288	yes	missense	CROCC	NM_014675.3	21	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	possibly-damaging	718/2018	17272769	13,12993	2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272769G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2152G>A	1.37:g.17272769G>A	ENSP00000364691:p.Val718Met					CROCC_ENST00000467938.1_3'UTR	p.V718M	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	16	2221	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	718						Missense_Mutation	SNP	ENST00000375541.5	37	c.2152G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666158	0.47677	2.27E-4	0.001395	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10573	2.86	4.14	3.23	0.37069	.	.	.	.	.	T	0.07279	0.0184	N	0.22421	0.69	0.24078	N	0.995956	B;B;P	0.34780	0.024;0.331;0.468	B;B;B	0.24974	0.008;0.057;0.057	T	0.25398	-1.0133	9	0.49607	T	0.09	.	11.5869	0.50923	0.0904:0.0:0.9096:0.0	.	581;21;718	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	M	718;599	ENSP00000364691:V718M	ENSP00000364691:V718M	V	+	1	0	CROCC	17145356	0.987000	0.35691	0.993000	0.49108	0.980000	0.70556	2.694000	0.47035	1.338000	0.45544	0.563000	0.77884	GTG		0.632	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		12	62	0	0	0	1	0	12	62				
SLIT1	6585	broad.mit.edu	37	10	98923207	98923207	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:98923207G>T	ENST00000266058.4	-	3	516	c.271C>A	c.(271-273)Cag>Aag	p.Q91K	SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Splice_Site_p.Q91K|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.C516*|SLIT1_ENST00000371041.3_Splice_Site_p.Q91K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	91					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCATCAGCTGCCTGGGGAAG	0.602																																						ENST00000453547.2																			0											c.e13-1									204.0	195.0	198.0					10																	98923207		2203	4300	6503	SO:0001630	splice_region_variant	100533184							g.chr10:98923207G>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.270-1C>A	10.37:g.98923207G>T						SLIT1_ENST00000266058.4_Splice_Site_p.Q91_splice|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371041.3_Splice_Site_p.Q91_splice|SLIT1_ENST00000371070.4_Splice_Site_p.Q91_splice	p.C516_splice							13	1547	-								Q5T0V1|Q8WWZ2|Q9UIL7	Splice_Site	SNP	ENST00000266058.4	37	c.1546_splice	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.469137|7.469137	0.98302|0.98302	.|.	.|.	ENSG00000213390|ENSG00000187122	ENST00000453547|ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	.|T;T;T;T	.|0.55413	.|0.52;0.52;0.52;0.52	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.46946	.|0.1419	N|N	0.16790|0.16790	0.44|0.44	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.41569	.|0.755;0.712;0.334	.|P;P;B	.|0.45660	.|0.489;0.458;0.138	.|T	.|0.53194	.|-0.8473	.|10	.|0.72032	.|D	.|0.01	.|.	17.738|17.738	0.88400|0.88400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|91;91;91	.|E7EWQ8;O75093-2;O75093	.|.;.;SLIT1_HUMAN	X|K	516|91;91;91;91;74;91;91	.|ENSP00000266058:Q91K;ENSP00000360109:Q91K;ENSP00000315005:Q74K;ENSP00000360080:Q91K	.|ENSP00000266058:Q91K	C|Q	-|-	3|1	2|0	ARHGAP19|SLIT1	98913197|98913197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.604000|8.604000	0.90877|0.90877	2.720000|2.720000	0.93068|0.93068	0.561000|0.561000	0.74099|0.74099	TGC|CAG		0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	Missense_Mutation	127	340	1	0	1.45828e-52	1	1.57748e-52	127	340				
SLC5A2	6524	broad.mit.edu	37	16	31501731	31501731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:31501731G>T	ENST00000330498.3	+	14	1913	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|AC026471.6_ENST00000565137.1_RNA|SLC5A2_ENST00000564197.1_Intron	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	632					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TACCCAGGAGGAGGCAGCGGC	0.672																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1894-1896)Gag>Tag		solute carrier family 5 (sodium/glucose cotransporter), member 2							26.0	29.0	28.0					16																	31501731		2197	4299	6496	SO:0001587	stop_gained	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31501731G>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1894G>T	16.37:g.31501731G>T	ENSP00000327943:p.Glu632*					C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|SLC5A2_ENST00000564197.1_Intron	p.E632*	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			14	1913	+			632					A2RRD2	Nonsense_Mutation	SNP	ENST00000330498.3	37	c.1894G>T	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654567	0.67472	.	.	ENSG00000140675	ENST00000330498	.	.	.	5.39	5.39	0.77823	.	0.141215	0.43919	D	0.000509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.639	0.85066	0.0:0.0:1.0:0.0	.	.	.	.	X	632	.	ENSP00000327943:E632X	E	+	1	0	SLC5A2	31409232	0.864000	0.29904	0.923000	0.36655	0.146000	0.21551	1.683000	0.37638	2.517000	0.84864	0.561000	0.74099	GAG		0.672	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			11	19	1	0	6.40141e-05	1	6.53306e-05	11	19				
CRHR2	1395	broad.mit.edu	37	7	30702317	30702317	+	Silent	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:30702317G>A	ENST00000471646.1	-	6	1107	c.690C>T	c.(688-690)atC>atT	p.I230I	CRHR2_ENST00000348438.4_Silent_p.I257I|CRHR2_ENST00000341843.4_Silent_p.I216I|CRHR2_ENST00000506074.2_Silent_p.I230I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	230					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACACCATCCGATGAAGAGGA	0.592																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(688-690)atC>atT		corticotropin releasing hormone receptor 2							81.0	73.0	76.0					7																	30702317		2203	4300	6503	SO:0001819	synonymous_variant	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30702317G>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.690C>T	7.37:g.30702317G>A						CRHR2_ENST00000348438.4_Silent_p.I257I|CRHR2_ENST00000341843.4_Silent_p.I216I|CRHR2_ENST00000506074.2_Silent_p.I230I	p.I230I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			6	1107	-			230					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	c.690C>T	CCDS5429.1																																																																																				0.592	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			25	69	0	0	0	1	0	25	69				
RFX6	222546	broad.mit.edu	37	6	117240317	117240317	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:117240317G>A	ENST00000332958.2	+	11	1056	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	347					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCAGACATAAGAAATTTTGCT	0.308																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1039-1041)aGa>aAa		regulatory factor X, 6							89.0	89.0	89.0					6																	117240317		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117240317G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1040G>A	6.37:g.117240317G>A	ENSP00000332208:p.Arg347Lys						p.R347K	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			11	1056	+			347					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1040G>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455485	0.96223	.	.	ENSG00000185002	ENST00000332958	T	0.64085	-0.08	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.84219	2.685	0.58432	D	0.999996	D	0.76494	0.999	D	0.70935	0.971	T	0.80589	-0.1315	10	0.87932	D	0	-25.4847	20.6721	0.99693	0.0:0.0:1.0:0.0	.	347	Q8HWS3	RFX6_HUMAN	K	347	ENSP00000332208:R347K	ENSP00000332208:R347K	R	+	2	0	RFX6	117347010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.295000	0.96095	2.894000	0.99253	0.591000	0.81541	AGA		0.308	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		18	63	0	0	0	1	0	18	63				
TMPRSS11D	9407	broad.mit.edu	37	4	68698966	68698966	+	Silent	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:68698966C>G	ENST00000283916.6	-	7	746	c.648G>C	c.(646-648)ctG>ctC	p.L216L	TMPRSS11D_ENST00000509584.1_5'Flank|TMPRSS11D_ENST00000545541.1_Silent_p.L99L|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	216	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGTTATTGATCAGGCTGCCTC	0.537																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(646-648)ctG>ctC		transmembrane protease, serine 11D							110.0	104.0	106.0					4																	68698966		2203	4300	6503	SO:0001819	synonymous_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68698966C>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.648G>C	4.37:g.68698966C>G						RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.L99L	p.L216L	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			7	746	-			216			Peptidase S1.		Q08AF6	Silent	SNP	ENST00000283916.6	37	c.648G>C	CCDS3518.1																																																																																				0.537	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		29	87	0	0	0	1	0	29	87				
TNFRSF8	943	broad.mit.edu	37	1	12198305	12198305	+	Missense_Mutation	SNP	C	C	T	rs141539189	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:12198305C>T	ENST00000263932.2	+	14	1577	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S340L|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	452					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGTGGTGCGTCGGTGACAGAA	0.627													C|||	3	0.000599042	0.0	0.0014	5008	,	,		13909	0.0		0.002	False		,,,				2504	0.0					ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(1354-1356)tCg>tTg		tumor necrosis factor receptor superfamily, member 8		C	LEU/SER,	2,4392		0,2,2195	32.0	35.0	34.0		1355,	-6.0	0.0	1	dbSNP_134	34	23,8571		0,23,4274	yes	missense,utr-5	TNFRSF8	NM_001243.3,NM_152942.2	145,	0,25,6469	TT,TC,CC		0.2676,0.0455,0.1925	benign,	452/596,	12198305	25,12963	2197	4297	6494	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12198305C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1355C>T	1.37:g.12198305C>T	ENSP00000263932:p.Ser452Leu					TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S340L|TNFRSF8_ENST00000479933.2_Intron	p.S452L	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	14	1577	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	452					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.1355C>T	CCDS144.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	3.354	-0.132005	0.06753	4.55E-4	0.002676	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.09630	2.96;2.96	4.34	-5.96	0.02234	.	19.788700	0.00166	N	0.000000	T	0.05502	0.0145	N	0.05230	-0.09	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.06405	0.001;0.002	T	0.40757	-0.9546	10	0.49607	T	0.09	0.0914	8.3148	0.32093	0.0:0.6206:0.124:0.2554	.	340;452	D3YTD8;P28908	.;TNR8_HUMAN	L	452;340	ENSP00000263932:S452L;ENSP00000390650:S340L	ENSP00000263932:S452L	S	+	2	0	TNFRSF8	12120892	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.881000	0.04179	-0.696000	0.05098	-0.752000	0.03492	TCG		0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			14	57	0	0	0	1	0	14	57				
MYH9	4627	broad.mit.edu	37	22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		1	Substitution - Missense(1)	p.E530K(1)	prostate(1)	NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1588-1590)Gag>Aag		myosin, heavy chain 9, non-muscle							81.0	70.0	73.0					22																	36708234		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708234C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1588G>A	22.37:g.36708234C>T	ENSP00000216181:p.Glu530Lys						p.E530K	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			14	1818	-			530			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1588G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433500	0.96150	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80653	-1.4	4.57	4.57	0.56435	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96569	0.9421	10	0.87932	D	0	.	17.3444	0.87306	0.0:1.0:0.0:0.0	.	530	P35579	MYH9_HUMAN	K	394;530	ENSP00000216181:E530K	ENSP00000216181:E530K	E	-	1	0	MYH9	35038180	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	7.818000	0.86416	2.258000	0.74832	0.561000	0.74099	GAG		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		28	69	0	0	0	1	0	28	69				
EPHB4	2050	broad.mit.edu	37	7	100421281	100421281	+	Silent	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100421281C>T	ENST00000358173.3	-	3	864	c.396G>A	c.(394-396)gaG>gaA	p.E132E	EPHB4_ENST00000477446.1_5'UTR|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Silent_p.E132E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	132	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGTAGGGGTTCTCCATCCAGG	0.657																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(394-396)gaG>gaA		EPH receptor B4							41.0	41.0	41.0					7																	100421281		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421281C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.396G>A	7.37:g.100421281C>T						EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E132E	p.E132E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	864	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		132					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.396G>A	CCDS5706.1																																																																																				0.657	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		33	55	0	0	0	1	0	33	55				
ACTN3	89	broad.mit.edu	37	11	66325221	66325221	+	lincRNA	SNP	G	G	A	rs549338699		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:66325221G>A	ENST00000504911.1	-	0	1160				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CCGTGTGGGTGAGCCCAGCAT	0.632																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							37.0	40.0	39.0					11																	66325221		2199	4295	6494			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66325221G>A																													11.37:g.66325221G>A						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	1046	+									RNA	SNP	ENST00000504911.1	37																																																																																						0.632	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			7	24	0	0	0	1	0	7	24				
OR2Z1	284383	broad.mit.edu	37	19	8841624	8841624	+	Silent	SNP	C	C	T	rs201431397		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:8841624C>T	ENST00000324060.2	+	1	309	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGTCACCATCCCCAAGATGG	0.547																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(232-234)atC>atT		olfactory receptor, family 2, subfamily Z, member 1		C		1,4405	2.1+/-5.4	0,1,2202	128.0	113.0	118.0		234	0.9	1.0	19		118	0,8600		0,0,4300	no	coding-synonymous	OR2Z1	NM_001004699.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		78/315	8841624	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841624C>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.234C>T	19.37:g.8841624C>T							p.I78I	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	309	+			78					B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.234C>T	CCDS32895.1																																																																																				0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			32	99	0	0	0	1	0	32	99				
MAPK7	5598	broad.mit.edu	37	17	19283202	19283202	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:19283202A>G	ENST00000308406.5	+	3	726	c.340A>G	c.(340-342)Atc>Gtc	p.I114V	MAPK7_ENST00000299612.7_Intron|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.I114V|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.I114V|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACACGACAACATCATCGCCAT	0.522																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(340-342)Atc>Gtc		mitogen-activated protein kinase 7							123.0	105.0	111.0					17																	19283202		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19283202A>G	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.340A>G	17.37:g.19283202A>G	ENSP00000311005:p.Ile114Val					MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.I114V|MAPK7_ENST00000395602.4_Missense_Mutation_p.I114V	p.I114V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			3	726	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		114			Protein kinase.|Required for binding to MAP2K5 (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.340A>G	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644933	0.47258	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.18	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.42744	1.35	0.58432	D	0.999994	D	0.54772	0.968	D	0.71870	0.975	T	0.55256	-0.8169	10	0.23891	T	0.37	-14.3936	11.5193	0.50541	1.0:0.0:0.0:0.0	.	114	Q13164	MK07_HUMAN	V	114	ENSP00000311005:I114V;ENSP00000412902:I114V;ENSP00000378968:I114V;ENSP00000378966:I114V	ENSP00000311005:I114V	I	+	1	0	MAPK7	19223795	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.698000	0.91311	1.887000	0.54652	0.379000	0.24179	ATC		0.522	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		40	102	0	0	0	1	0	40	102				
EPHX1	2052	broad.mit.edu	37	1	226032238	226032238	+	Silent	SNP	C	C	G			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:226032238C>G	ENST00000366837.4	+	8	1276	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.L360L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	360					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ACGTCATGCTCTACTGGACAA	0.572																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1078-1080)ctC>ctG		epoxide hydrolase 1, microsomal (xenobiotic)							127.0	104.0	111.0					1																	226032238		2203	4300	6503	SO:0001819	synonymous_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032238C>G	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1080C>G	1.37:g.226032238C>G						EPHX1_ENST00000272167.5_Silent_p.L360L|RP11-285F7.2_ENST00000424332.1_RNA	p.L360L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			8	1276	+	Breast(184;0.197)		360					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	c.1080C>G	CCDS1547.1																																																																																				0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		4	89	0	0	0	1	0	4	89				
CCL19	6363	broad.mit.edu	37	9	34691101	34691101	+	Silent	SNP	G	G	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:34691101G>C	ENST00000311925.2	-	1	173	c.36C>G	c.(34-36)ctC>ctG	p.L12L	CCL19_ENST00000485502.1_5'Flank|CCL19_ENST00000378800.3_Silent_p.L12L	NM_006274.2	NP_006265.1	Q99731	CCL19_HUMAN	chemokine (C-C motif) ligand 19	12					activation of JUN kinase activity (GO:0007257)|cell communication (GO:0007154)|cell maturation (GO:0048469)|cellular calcium ion homeostasis (GO:0006874)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cell motility (GO:2000147)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell dendrite assembly (GO:2000549)|positive regulation of endocytosis (GO:0045807)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell projection assembly (GO:0060491)|release of sequestered calcium ion into cytosol (GO:0051209)|response to nitric oxide (GO:0071731)|response to organic cyclic compound (GO:0014070)|response to prostaglandin E (GO:0034695)|response to virus (GO:0009615)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR chemokine receptor binding (GO:0048020)|CCR10 chemokine receptor binding (GO:0031735)|CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGGAAGTCCAGAGAACCAGCA	0.602																																					Melanoma(129;177 1723 4710 11020 27705)	ENST00000311925.2																			0											c.(34-36)ctC>ctG		chemokine (C-C motif) ligand 19							67.0	59.0	62.0					9																	34691101		2201	4300	6501	SO:0001819	synonymous_variant	6363				activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity	g.chr9:34691101G>C	AB000887	CCDS6570.1	9p13	2014-05-14	2002-08-22	2002-08-23	ENSG00000172724	ENSG00000172724		"""Chemokine ligands"", ""Endogenous ligands"""	10617	protein-coding gene	gene with protein product	"""CC chemokine ligand 19"", ""macrophage inflammatory protein 3-beta"", ""beta chemokine exodus-3"", ""CK beta-11"", ""EBI1-ligand chemokine"""	602227	"""small inducible cytokine subfamily A (Cys-Cys), member 19"""	SCYA19		9153236	Standard	NM_006274		Approved	ELC, MIP-3b, exodus-3, CKb11	uc003zvn.3	Q99731	OTTHUMG00000019833	ENST00000311925.2:c.36C>G	9.37:g.34691101G>C						CCL19_ENST00000378800.3_Silent_p.L12L	p.L12L	NM_006274.2	NP_006265.1	Q99731	CCL19_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	1	173	-	all_epithelial(49;0.102)		12					O00697|O00736	Silent	SNP	ENST00000311925.2	37	c.36C>G	CCDS6570.1																																																																																				0.602	CCL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052225.1	NM_006274		14	16	0	0	0	1	0	14	16				
KDR	3791	broad.mit.edu	37	4	55958791	55958791	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:55958791G>A	ENST00000263923.4	-	22	3357	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1021	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTTCGCGATGCCAAGAA	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3061-3063)tCg>tTg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						115.0	104.0	108.0					4																	55958791		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55958791G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3062C>T	4.37:g.55958791G>A	ENSP00000263923:p.Ser1021Leu	TSP Lung(20;0.16)					p.S1021L	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		22	3357	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1021			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3062C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518257	0.85495	.	.	ENSG00000128052	ENST00000263923	D	0.90732	-2.72	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95200	0.8316	10	0.87932	D	0	.	20.3802	0.98930	0.0:0.0:1.0:0.0	.	1021	P35968	VGFR2_HUMAN	L	1021	ENSP00000263923:S1021L	ENSP00000263923:S1021L	S	-	2	0	KDR	55653548	1.000000	0.71417	0.989000	0.46669	0.229000	0.25112	9.750000	0.98875	2.822000	0.97130	0.563000	0.77884	TCG		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			16	60	0	0	0	1	0	16	60				
NUP205	23165	broad.mit.edu	37	7	135272633	135272633	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:135272633C>T	ENST00000285968.6	+	10	1392	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	456					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAACCCTTTTCATCTGGAGCT	0.433																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1366-1368)Cat>Tat		nucleoporin 205kDa							82.0	85.0	84.0					7																	135272633		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135272633C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1366C>T	7.37:g.135272633C>T	ENSP00000285968:p.His456Tyr					NUP205_ENST00000440390.2_Intron	p.H456Y	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			10	1392	+			456					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.1366C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553805	0.45487	.	.	ENSG00000155561	ENST00000285968	T	0.31769	1.48	5.85	4.82	0.62117	.	0.353884	0.36374	N	0.002638	T	0.23133	0.0559	L	0.34521	1.04	0.80722	D	1	B	0.18968	0.032	B	0.25405	0.06	T	0.04650	-1.0936	10	0.13470	T	0.59	-3.499	11.8994	0.52673	0.5318:0.4682:0.0:0.0	.	456	Q92621	NU205_HUMAN	Y	456	ENSP00000285968:H456Y	ENSP00000285968:H456Y	H	+	1	0	NUP205	134923173	1.000000	0.71417	0.849000	0.33467	0.970000	0.65996	4.689000	0.61723	1.242000	0.43836	0.655000	0.94253	CAT		0.433	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			18	75	0	0	0	1	0	18	75				
CBX2	84733	broad.mit.edu	37	17	77758764	77758764	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:77758764G>A	ENST00000310942.4	+	5	1626	c.1522G>A	c.(1522-1524)Gtc>Atc	p.V508I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	508					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGTCACCGACGTCACTGCCAA	0.622																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(1522-1524)Gtc>Atc		chromobox homolog 2							97.0	82.0	87.0					17																	77758764		2203	4300	6503	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758764G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1522G>A	17.37:g.77758764G>A	ENSP00000308750:p.Val508Ile						p.V508I	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1626	+			508					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.1522G>A	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122784	0.94429	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76211	-0.3042	9	0.46703	T	0.11	-5.1981	19.3216	0.94243	0.0:0.0:1.0:0.0	.	508	Q14781	CBX2_HUMAN	I	508	.	ENSP00000308750:V508I	V	+	1	0	CBX2	75373359	1.000000	0.71417	0.987000	0.45799	0.891000	0.51852	9.787000	0.99055	2.573000	0.86826	0.655000	0.94253	GTC		0.622	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		25	57	0	0	0	1	0	25	57				
RIMBP2	23504	broad.mit.edu	37	12	130897293	130897293	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:130897293C>T	ENST00000261655.4	-	15	2855	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	898	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACAGGTTTCCCCACGGTAG	0.438																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2692-2694)Gaa>Aaa		RIMS binding protein 2							102.0	99.0	100.0					12																	130897293		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130897293C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2692G>A	12.37:g.130897293C>T	ENSP00000261655:p.Glu898Lys						p.E898K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	15	2855	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	898			SH3 2.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2692G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257240	0.80246	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.09911	2.93;2.93	5.06	5.06	0.68205	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02138	-1.1207	10	0.62326	D	0.03	-16.4783	18.4389	0.90658	0.0:1.0:0.0:0.0	.	898	O15034	RIMB2_HUMAN	K	898;35	ENSP00000261655:E898K;ENSP00000439030:E35K	ENSP00000261655:E898K	E	-	1	0	RIMBP2	129463246	1.000000	0.71417	0.976000	0.42696	0.223000	0.24884	5.954000	0.70298	2.339000	0.79563	0.655000	0.94253	GAA		0.438	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		19	61	0	0	0	1	0	19	61				
INTS6-AS1	100507398	broad.mit.edu	37	13	52035196	52035196	+	RNA	SNP	C	C	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:52035196C>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000596303.1_RNA					INTS6 antisense RNA 1																		CGACACTGGTCACCTGTGTAT	0.453																																						ENST00000594959.1																			0																																																			100507398							g.chr13:52035196C>A	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035196C>A						INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596180.1_RNA								0	411	+									RNA	SNP	ENST00000594959.1	37																																																																																						0.453	INTS6-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462289.1			4	32	1	0	0.00024832	1	0.000252131	4	32				
C1QC	714	broad.mit.edu	37	1	22973835	22973835	+	Silent	SNP	C	C	A	rs375492234		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:22973835C>A	ENST00000374639.3	+	3	415	c.297C>A	c.(295-297)ccC>ccA	p.P99P	C1QC_ENST00000374637.1_Silent_p.P99P|C1QC_ENST00000374640.4_Silent_p.P99P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	99	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGGGTGCCCGGCCCCATGG	0.647																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(295-297)ccC>ccA		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						40.0	47.0	44.0					1																	22973835		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973835C>A	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.297C>A	1.37:g.22973835C>A						C1QC_ENST00000374640.4_Silent_p.P99P|C1QC_ENST00000374637.1_Silent_p.P99P	p.P99P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	415	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	99			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.297C>A	CCDS227.1																																																																																				0.647	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		20	64	1	0	4.96729e-08	1	5.2032e-08	20	64				
STK38	11329	broad.mit.edu	37	6	36492197	36492197	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:36492197A>C	ENST00000229812.7	-	4	512	c.227T>G	c.(226-228)tTt>tGt	p.F76C	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAACGAAGAAACTCTGTTTC	0.398																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(226-228)tTt>tGt		serine/threonine kinase 38							133.0	129.0	130.0					6																	36492197		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36492197A>C		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.227T>G	6.37:g.36492197A>C	ENSP00000229812:p.Phe76Cys						p.F76C	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			4	512	-			76			Interaction with S100B.			Missense_Mutation	SNP	ENST00000229812.7	37	c.227T>G	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514063	0.85389	.	.	ENSG00000112079	ENST00000229812	T	0.47869	0.83	5.4	5.4	0.78164	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	M	0.89095	3.005	0.80722	D	1	D	0.67145	0.996	P	0.61874	0.895	T	0.74411	-0.3674	10	0.87932	D	0	.	15.5898	0.76517	1.0:0.0:0.0:0.0	.	76	Q15208	STK38_HUMAN	C	76	ENSP00000229812:F76C	ENSP00000229812:F76C	F	-	2	0	STK38	36600175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.257000	0.74773	0.533000	0.62120	TTT		0.398	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		27	66	0	0	0	1	0	27	66				
PCSK9	255738	broad.mit.edu	37	1	55509581	55509582	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:55509581_55509582delAG	ENST00000302118.5	+	2	563_564	c.273_274delAG	c.(271-276)tcagagfs	p.E92fs	PCSK9_ENST00000452118.2_Frame_Shift_Del_p.E92fs|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	92					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCTCGCAGTCAGAGCGCACTGC	0.624																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(271-276)tcagfs		proprotein convertase subtilisin/kexin type 9																																				SO:0001589	frameshift_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55509581_55509582delAG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.273_274delAG	1.37:g.55509583_55509584delAG	ENSP00000303208:p.Glu92fs					PCSK9_ENST00000452118.2_Frame_Shift_Del_p.SE91fs|PCSK9_ENST00000543384.1_Intron	p.SE91fs	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			2	563_564	+			91					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Frame_Shift_Del	DEL	ENST00000302118.5	37	c.273_274delAG	CCDS603.1																																																																																				0.624	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		15	60						15	60	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181759648	181759651	+	Frame_Shift_Del	DEL	ATGG	ATGG	-			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:181759648_181759651delATGG	ENST00000367573.2	+	44	5854_5857	c.5854_5857delATGG	c.(5854-5859)atggacfs	p.MD1952fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.MD1933fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.MD1559fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.MD1952fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.MD1933fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.MD1903fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.MD1884fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1952					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						GTTGGCTTGTATGGACCCCGCCGA	0.495																																						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.(5797-5802)acfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181759648_181759651delATGG	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.5854_5857delATGG	1.37:g.181759648_181759651delATGG	ENSP00000356545:p.Met1952fs					CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.MD1884fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.MD1903fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.MD1952fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.MD1952fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.MD1559fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.MD1933fs	p.MD1933fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			43	5962_5965	+			1952					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.5797_5800delATGG	CCDS55664.1																																																																																				0.495	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		14	50						14	50	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187521139	187521140	+	Frame_Shift_Ins	INS	-	-	TACT			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:187521139_187521140insTACT	ENST00000441802.2	-	22	12224_12225	c.12015_12016insAGTA	c.(12013-12018)gtatctfs	p.-4006fs	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGCCTGGAGATACATCCACCG	0.54										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12013-12018)gtctccfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521139_187521140insTACT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12015_12016insAGTA	4.37:g.187521139_187521140insTACT	ENSP00000406229:p.Ser4006fs	HNSCC(5;0.00058)					p.S4006fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	12224_12225	-			4006			Laminin G-like.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.12015_12016insAGTA	CCDS47177.1																																																																																				0.540	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		45	109						45	109	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187538959	187538960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:187538959_187538960insA	ENST00000441802.2	-	10	8989_8990	c.8780_8781insT	c.(8779-8781)gtgfs	p.V2927fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2927	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCTCACTCACAGTCCCTTT	0.47										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8779-8781)gagfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538959_187538960insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8781dupT	4.37:g.187538960_187538960dupA	ENSP00000406229:p.Val2927fs	HNSCC(5;0.00058)					p.E2927fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8989_8990	-			2927			Cadherin 27.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.8780_8781insT	CCDS47177.1																																																																																				0.470	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		41	101						41	101	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	152012225	152012228	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs534959800|rs375641324		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:152012225_152012228delTCTC	ENST00000262189.6	-	4	803_806	c.585_588delGAGA	c.(583-588)cagagafs	p.QR195fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.QR195fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	195					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTGCTTACTTTCTCTGTCCTCTTT	0.333																																						ENST00000355193.2																			0											c.(583-588)cafs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:152012225_152012228delTCTC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.585_588delGAGA	7.37:g.152012225_152012228delTCTC	ENSP00000262189:p.Gln195fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.QR195fs	p.QR195fs							4	803_806	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.585_588delGAGA	CCDS5931.1																																																																																				0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			85	56						85	56	---	---	---	---
PPP2CB	5516	broad.mit.edu	37	8	30669897	30669898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:30669897_30669898insC	ENST00000221138.4	-	1	490_491	c.40_41insG	c.(40-42)gtcfs	p.V14fs	PPP2CB_ENST00000518564.1_Frame_Shift_Ins_p.V14fs|PPP2CB_ENST00000520500.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	14					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	CAGCTGCTCGACCCACTGGTCC	0.708																																						ENST00000221138.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(40-42)cgafs		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)			2,4262		0,2,2130						3.3	1.0			57	0,8254		0,0,4127	no	frameshift	PPP2CB	NM_001009552.1		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30669897_30669898insC		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.41dupG	8.37:g.30669900_30669900dupC	ENSP00000221138:p.Val14fs					PPP2CB_ENST00000520500.1_Intron|PPP2CB_ENST00000518564.1_Frame_Shift_Ins_p.R14fs	p.R14fs	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	1	490_491	-			14					D3DSV4|P11082|Q6FHK5	Frame_Shift_Ins	INS	ENST00000221138.4	37	c.40_41insG	CCDS6079.1																																																																																				0.708	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		10	26						10	26	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		6	8						6	8	---	---	---	---
OR3A2	4995	broad.mit.edu	37	17	3181557	3181559	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:3181557_3181559delTGA	ENST00000408891.2	-	1	709_711	c.671_673delTCA	c.(670-675)atcact>act	p.I224del	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	224					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CTGTAGGCAGTGATGATGAGAAC	0.567																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	ENST00000408891.2																			0				ovary(1)	1						c.(670-675)act>a		olfactory receptor, family 3, subfamily A, member 2																																				SO:0001651	inframe_deletion	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181557_3181559delTGA	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.671_673delTCA	17.37:g.3181563_3181565delTGA	ENSP00000386180:p.Ile224del						p.IT224del	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN			1	709_711	-			224					Q6IFM3|Q9P1Q3	In_Frame_Del	DEL	ENST00000408891.2	37	c.671_673delTCA	CCDS42233.1																																																																																				0.567	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			23	90						23	90	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.G24del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		7	52						7	52	---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40693145	40693146	+	Frame_Shift_Del	DEL	CA	CA	-	rs118204025		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:40693145_40693146delCA	ENST00000225927.2	+	5	1043_1044	c.942_943delCA	c.(940-945)ttcaatfs	p.FN314fs	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	314			F -> L (in MPS3B). {ECO:0000269|PubMed:12202988}.		carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCGACACTTTCAATGAGATGCA	0.584																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(940-945)ttatfs		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40693145_40693146delCA		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.942_943delCA	17.37:g.40693145_40693146delCA	ENSP00000225927:p.Phe314fs					RP11-400F19.8_ENST00000585572.1_RNA	p.FN314fs	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	5	1043_1044	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	314		F -> L (in MPS3B).				Frame_Shift_Del	DEL	ENST00000225927.2	37	c.942_943delCA	CCDS11427.1																																																																																				0.584	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		52	98						52	98	---	---	---	---
TUBD1	51174	broad.mit.edu	37	17	57958381	57958382	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:57958381_57958382insA	ENST00000592426.1	-	3	410_411	c.410_411insT	c.(409-411)ttcfs	p.F137fs	TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Frame_Shift_Ins_p.F137fs|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Frame_Shift_Ins_p.F137fs|TUBD1_ENST00000340993.6_Frame_Shift_Ins_p.F137fs|TUBD1_ENST00000394239.3_Frame_Shift_Ins_p.F137fs			Q9UJT1	TBD_HUMAN	tubulin, delta 1	137					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TCATTATGATGAAAAAACCACT	0.396																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(409-411)tatfs		tubulin, delta 1																																				SO:0001589	frameshift_variant	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57958381_57958382insA	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.411dupT	17.37:g.57958387_57958387dupA	ENSP00000468518:p.Phe137fs					TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000340993.6_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000376094.4_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Frame_Shift_Ins_p.Y137fs	p.Y137fs	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		4	687_688	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		137					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Frame_Shift_Ins	INS	ENST00000592426.1	37	c.410_411insT	CCDS11620.1																																																																																				0.396	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		43	170						43	170	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740643	58740643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:58740643delA	ENST00000305921.3	+	6	1780	c.1548delA	c.(1546-1548)tcafs	p.S516fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	516					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGAAGATGTCAACTCCTGGCC	0.393											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1546-1548)tcfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D							70.0	71.0	71.0					17																	58740643		2203	4300	6503	SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740643delA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1548delA	17.37:g.58740643delA	ENSP00000306682:p.Ser516fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.S516fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1780	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		516					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1548delA	CCDS11625.1																																																																																				0.393	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		32	81						32	81	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18976359	18976379	+	Splice_Site	DEL	CTGTCTTTCAGGGCGAGGCAC	CTGTCTTTCAGGGCGAGGCAC	-			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:18976359_18976379delCTGTCTTTCAGGGCGAGGCAC	ENST00000599848.1	+	22	3261_3271	c.3052_3062delCTGTCTTTCAGGGCGAGGCAC	c.(3052-3063)ctgtctttcagg>g	p.LSFR1018del	UPF1_ENST00000262803.5_Splice_Site_p.LSFR1007del			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1018					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCCTGGACTGCTGTCTTTCAGGGCGAGGCACCCCGAAAGGC	0.633																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.e22-1		UPF1 regulator of nonsense transcripts homolog (yeast)																																				SO:0001630	splice_region_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976359_18976379delCTGTCTTTCAGGGCGAGGCAC	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3053-1CTGTCTTTCAGGGCGAGGCAC>-	19.37:g.18976359_18976379delCTGTCTTTCAGGGCGAGGCAC						UPF1_ENST00000599848.1_Splice_Site_p.1018_splice	p.1007_splice	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			22	3291_3301	+			1018					O00239|O43343|Q86Z25|Q92842	Splice_Site	DEL	ENST00000599848.1	37	c.3019_splice																																																																																					0.633	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	In_Frame_Del	20	87						20	87	---	---	---	---
