#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
WNK3	65267	broad.mit.edu	37	X	54328282	54328282	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:54328282G>C	ENST00000375159.2	-	5	1099	c.1100C>G	c.(1099-1101)cCa>cGa	p.P367R	WNK3_ENST00000375169.3_Missense_Mutation_p.P367R|WNK3_ENST00000354646.2_Missense_Mutation_p.P367R			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	367	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAAGCTGGCTGGTTTTATGCC	0.333																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1099-1101)cCa>cGa		WNK lysine deficient protein kinase 3							145.0	114.0	124.0					X																	54328282		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54328282G>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1100C>G	X.37:g.54328282G>C	ENSP00000364301:p.Pro367Arg					WNK3_ENST00000375159.2_Missense_Mutation_p.P367R|WNK3_ENST00000375169.3_Missense_Mutation_p.P367R	p.P367R	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			6	1538	-			367			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1100C>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239138	0.79800	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.26373	1.74;1.74;1.74	5.04	5.04	0.67666	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	0.56097	D	0.000027	T	0.46580	0.1400	L	0.51914	1.62	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46748	-0.9169	10	0.87932	D	0	-10.6732	16.2996	0.82804	0.0:0.0:1.0:0.0	.	367;367	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	R	367	ENSP00000364312:P367R;ENSP00000346667:P367R;ENSP00000364301:P367R	ENSP00000346667:P367R	P	-	2	0	WNK3	54345007	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.760000	0.98935	2.100000	0.63781	0.529000	0.55759	CCA		0.333	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		13	27	0	0	0	1	0	13	27				
KLC1	3831	broad.mit.edu	37	14	104136555	104136555	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:104136555G>T	ENST00000348520.6	+	7	1241	c.922G>T	c.(922-924)Ggt>Tgt	p.G308C	KLC1_ENST00000557575.1_Missense_Mutation_p.G308C|KLC1_ENST00000445352.4_Missense_Mutation_p.G306C|KLC1_ENST00000553286.1_Missense_Mutation_p.G308C|KLC1_ENST00000380038.3_Missense_Mutation_p.G308C|KLC1_ENST00000389744.4_Missense_Mutation_p.G308C|KLC1_ENST00000246489.7_Missense_Mutation_p.G308C|KLC1_ENST00000555836.1_Missense_Mutation_p.G308C|KLC1_ENST00000334553.6_Missense_Mutation_p.G308C|KLC1_ENST00000557450.1_Missense_Mutation_p.G308C|KLC1_ENST00000554280.1_Missense_Mutation_p.G308C|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.G480C|KLC1_ENST00000347839.6_Missense_Mutation_p.G308C|KLC1_ENST00000452929.2_Missense_Mutation_p.G308C	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	308					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGTCCTTTATGGTAAAAGAGG	0.408																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(922-924)Ggt>Tgt		kinesin light chain 1							125.0	132.0	130.0					14																	104136555		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104136555G>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.922G>T	14.37:g.104136555G>T	ENSP00000341154:p.Gly308Cys					KLC1_ENST00000334553.6_Missense_Mutation_p.G308C|KLC1_ENST00000246489.7_Missense_Mutation_p.G308C|KLC1_ENST00000452929.2_Missense_Mutation_p.G308C|KLC1_ENST00000554280.1_Missense_Mutation_p.G308C|KLC1_ENST00000557575.1_Missense_Mutation_p.G308C|KLC1_ENST00000553286.1_Missense_Mutation_p.G308C|KLC1_ENST00000445352.4_Missense_Mutation_p.G306C|KLC1_ENST00000557450.1_Missense_Mutation_p.G308C|KLC1_ENST00000348520.6_Missense_Mutation_p.G308C|KLC1_ENST00000347839.6_Missense_Mutation_p.G308C|KLC1_ENST00000380038.3_Missense_Mutation_p.G308C|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.G480C|KLC1_ENST00000555836.1_Missense_Mutation_p.G308C	p.G308C			Q07866	KLC1_HUMAN			7	1191	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	308					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.922G>T	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865038	0.91511	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096938	0.64402	D	0.000001	D	0.95774	0.8625	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.88;0.993;0.997;0.962;0.996	D	0.95498	0.8575	10	0.54805	T	0.06	-13.5762	19.6298	0.95698	0.0:0.0:1.0:0.0	.	308;308;480;308;306	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	C	308;308;308;308;308;308;308;308;308;308;308;308;308;306;480	ENSP00000341154:G308C;ENSP00000369377:G308C;ENSP00000374394:G308C;ENSP00000450617:G308C;ENSP00000452487:G308C;ENSP00000334618:G308C;ENSP00000452481:G308C;ENSP00000334523:G308C;ENSP00000246489:G308C;ENSP00000450648:G308C;ENSP00000451242:G308C;ENSP00000414982:G308C;ENSP00000412693:G306C;ENSP00000439065:G480C	ENSP00000246489:G308C	G	+	1	0	KLC1;RP11-73M18.2	103206308	1.000000	0.71417	0.635000	0.29338	0.992000	0.81027	9.807000	0.99171	2.706000	0.92434	0.585000	0.79938	GGT		0.408	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		39	100	1	0	1.15183e-24	1	1.69406e-24	39	100				
PKHD1	5314	broad.mit.edu	37	6	51907870	51907870	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:51907870A>G	ENST00000371117.3	-	27	3159	c.2884T>C	c.(2884-2886)Ttg>Ctg	p.L962L	PKHD1_ENST00000340994.4_Silent_p.L962L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	962	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTAACCTGCAAGAACTGGGAG	0.368																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2884-2886)Ttg>Ctg		polycystic kidney and hepatic disease 1 (autosomal recessive)							78.0	76.0	77.0					6																	51907870		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51907870A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2884T>C	6.37:g.51907870A>G						PKHD1_ENST00000340994.4_Silent_p.L962L	p.L962L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			27	3159	-	Lung NSC(77;0.0605)		962			IPT/TIG 4.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.2884T>C	CCDS4935.1																																																																																				0.368	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		22	31	0	0	0	1	0	22	31				
NOTCH3	4854	broad.mit.edu	37	19	15281357	15281357	+	Silent	SNP	C	C	G	rs200797732	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:15281357C>G	ENST00000263388.2	-	27	4974	c.4899G>C	c.(4897-4899)ccG>ccC	p.P1633P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1633					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAGGCTCCAGCGGCTCCCCTA	0.716													C|||	2	0.000399361	0.0	0.0	5008	,	,		10600	0.002		0.0	False		,,,				2504	0.0					ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(4897-4899)ccG>ccC		notch 3							15.0	19.0	18.0					19																	15281357		2128	4130	6258	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15281357C>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4899G>C	19.37:g.15281357C>G							p.P1633P	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		27	4974	-			1633					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.4899G>C	CCDS12326.1																																																																																				0.716	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		24	19	0	0	0	1	0	24	19				
PTPN14	5784	broad.mit.edu	37	1	214576257	214576257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:214576257G>A	ENST00000366956.5	-	6	744	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q184*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	184	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCTACCTTCTGGGTCAGCTCC	0.527																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(550-552)Cag>Tag		protein tyrosine phosphatase, non-receptor type 14							182.0	155.0	164.0					1																	214576257		2203	4300	6503	SO:0001587	stop_gained	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214576257G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.550C>T	1.37:g.214576257G>A	ENSP00000355923:p.Gln184*					PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q184*	p.Q184*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	6	744	-			184			FERM.		Q5VSI0	Nonsense_Mutation	SNP	ENST00000366956.5	37	c.550C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	38	7.211820	0.98139	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	.	.	.	5.06	5.06	0.68205	.	0.123875	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	18.4059	0.90536	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000355923:Q184X	Q	-	1	0	PTPN14	212642880	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.605000	0.82844	2.336000	0.79503	0.655000	0.94253	CAG		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		55	103	0	0	0	1	0	55	103				
IPO5	3843	broad.mit.edu	37	13	98628962	98628962	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr13:98628962C>A	ENST00000490680.1	+	1	77	c.12C>A	c.(10-12)gcC>gcA	p.A4A	IPO5_ENST00000539640.1_Silent_p.A4A|IPO5_ENST00000261574.5_Silent_p.A22A			O00410	IPO5_HUMAN	importin 5	4	Poly-Ala.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGCGGCGGCCGCGGCGGAGC	0.706																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(64-66)gcC>gcA		importin 5							11.0	15.0	13.0					13																	98628962		2165	4227	6392	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98628962C>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.12C>A	13.37:g.98628962C>A						IPO5_ENST00000490680.1_Silent_p.A4A|IPO5_ENST00000539640.1_Silent_p.A4A	p.A22A	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			4	246	+			4					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.66C>A																																																																																					0.706	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		6	7	1	0	0.00116845	1	0.00121925	6	7				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	7	91	0	0	0	1	0	7	91				
TCF15	6939	broad.mit.edu	37	20	590476	590476	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:590476C>A	ENST00000246080.3	-	1	566	c.406G>T	c.(406-408)Gac>Tac	p.D136Y		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	136					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				GGCTGCCCGTCGTCGGCCGAG	0.736																																						ENST00000246080.3																			0				autonomic_ganglia(1)|lung(2)|prostate(1)	4						c.(406-408)Gac>Tac		transcription factor 15 (basic helix-loop-helix)							13.0	13.0	13.0					20																	590476		2179	4264	6443	SO:0001583	missense	6939				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:590476C>A		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"""Basic helix-loop-helix proteins"""	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.406G>T	20.37:g.590476C>A	ENSP00000246080:p.Asp136Tyr						p.D136Y	NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN			1	566	-		Breast(17;0.231)	136					Q9NQQ1	Missense_Mutation	SNP	ENST00000246080.3	37	c.406G>T	CCDS33432.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.505054	0.85282	.	.	ENSG00000125878	ENST00000246080	D	0.95980	-3.87	4.35	3.37	0.38596	.	0.158814	0.53938	N	0.000058	D	0.94470	0.8220	M	0.79693	2.465	0.47183	D	0.999349	B	0.15930	0.015	B	0.12837	0.008	D	0.92004	0.5613	10	0.51188	T	0.08	-23.9133	12.287	0.54797	0.1712:0.8288:0.0:0.0	.	136	Q12870	TCF15_HUMAN	Y	136	ENSP00000246080:D136Y	ENSP00000246080:D136Y	D	-	1	0	TCF15	538476	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.572000	0.53849	0.888000	0.36160	0.543000	0.68304	GAC		0.736	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		4	11	1	0	1	1	1	4	11				
XIST	7503	broad.mit.edu	37	X	73063403	73063403	+	lincRNA	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:73063403T>A	ENST00000429829.1	-	0	9185					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGAGATCAACTCTTAGTCTAA	0.373																																						ENST00000429829.1																			0																				60.0	57.0	58.0					X																	73063403		876	1991	2867			7503							g.chrX:73063403T>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063403T>A								NR_001564.2						0	9185	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.373	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		11	35	0	0	0	1	0	11	35				
OTUD4	54726	broad.mit.edu	37	4	146064571	146064571	+	Silent	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:146064571T>A	ENST00000447906.2	-	17	1816	c.1629A>T	c.(1627-1629)acA>acT	p.T543T	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Silent_p.T478T			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	543					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GTGATGAAACTGTTGCATATT	0.358																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1432-1434)acA>acT		OTU domain containing 4							99.0	95.0	96.0					4																	146064571		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146064571T>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1629A>T	4.37:g.146064571T>A						OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.T543T	p.T478T	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			17	1571	-	all_hematologic(180;0.151)		542					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.1434A>T																																																																																					0.358	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		13	19	0	0	0	1	0	13	19				
AEBP1	165	broad.mit.edu	37	7	44151776	44151776	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:44151776G>T	ENST00000223357.3	+	17	2378	c.2073G>T	c.(2071-2073)tgG>tgT	p.W691C	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.W266C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	691	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGGACTGTGGACTGAGGAGG	0.612																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(2071-2073)tgG>tgT		AE binding protein 1							82.0	81.0	82.0					7																	44151776		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44151776G>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2073G>T	7.37:g.44151776G>T	ENSP00000223357:p.Trp691Cys					AEBP1_ENST00000450684.2_Missense_Mutation_p.W266C	p.W691C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			17	2378	+			691			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2073G>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864602	0.51482	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.10005	2.92;2.92	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.974;0.998	T	0.00964	-1.1498	10	0.72032	D	0.01	-17.3222	13.2939	0.60286	0.0791:0.0:0.9209:0.0	.	266;691	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	691;266	ENSP00000223357:W691C;ENSP00000398878:W266C	ENSP00000223357:W691C	W	+	3	0	AEBP1	44118301	1.000000	0.71417	0.993000	0.49108	0.857000	0.48899	5.183000	0.65065	2.538000	0.85594	0.462000	0.41574	TGG		0.612	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		32	31	1	0	9.65021e-13	1	1.1989e-12	32	31				
CLCA3P	9629	broad.mit.edu	37	1	87104549	87104549	+	RNA	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:87104549C>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							AGATGTTCCACTCGTATTACT	0.378																																						ENST00000456587.1																			0																				66.0	62.0	63.0					1																	87104549		2203	4300	6503			9629							g.chr1:87104549C>A																													1.37:g.87104549C>A						CLCA3P_ENST00000466454.1_RNA								0	294	-									RNA	SNP	ENST00000456587.1	37																																																																																						0.378	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000028263.1			23	17	1	0	4.87955e-14	1	6.25341e-14	23	17				
TDRKH	11022	broad.mit.edu	37	1	151751214	151751214	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:151751214T>C	ENST00000368822.1	-	6	1463	c.830A>G	c.(829-831)gAc>gGc	p.D277G	TDRKH_ENST00000440583.2_Missense_Mutation_p.D53G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.D277G|TDRKH_ENST00000368823.1_Missense_Mutation_p.D273G|TDRKH_ENST00000368827.6_Missense_Mutation_p.D277G|TDRKH_ENST00000368824.3_Missense_Mutation_p.D277G|TDRKH_ENST00000368825.3_Missense_Mutation_p.D232G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	277					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAAAGCTGTCATCACTAGG	0.498																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(829-831)gAc>gGc		tudor and KH domain containing							58.0	58.0	58.0					1																	151751214		2014	4207	6221	SO:0001583	missense	11022						RNA binding	g.chr1:151751214T>C	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.830A>G	1.37:g.151751214T>C	ENSP00000357812:p.Asp277Gly					TDRKH_ENST00000368825.3_Missense_Mutation_p.D232G|TDRKH_ENST00000368827.6_Missense_Mutation_p.D277G|TDRKH_ENST00000368823.1_Missense_Mutation_p.D273G|TDRKH_ENST00000440583.2_Missense_Mutation_p.D53G|TDRKH_ENST00000368824.3_Missense_Mutation_p.D277G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.D277G	p.D277G			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		6	1463	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		277					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.830A>G	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898143	0.33535	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.26	1.52	0.23074	.	0.559330	0.19940	N	0.102677	T	0.14787	0.0357	N	0.24115	0.695	0.31387	N	0.678274	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.13045	-1.0524	10	0.25106	T	0.35	-7.0348	7.3031	0.26432	0.0:0.2653:0.0:0.7347	.	232;273;277	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	G	277;232;277;273;277;277;53	ENSP00000357819:D277G;ENSP00000357817:D232G;ENSP00000357815:D277G;ENSP00000357813:D273G;ENSP00000357812:D277G;ENSP00000395718:D277G;ENSP00000416645:D53G	ENSP00000357812:D277G	D	-	2	0	TDRKH	150017838	0.002000	0.14202	0.992000	0.48379	0.996000	0.88848	0.645000	0.24782	0.436000	0.26393	0.528000	0.53228	GAC		0.498	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		24	54	0	0	0	1	0	24	54				
VCAN	1462	broad.mit.edu	37	5	82815734	82815734	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:82815734A>T	ENST00000265077.3	+	7	2174	c.1609A>T	c.(1609-1611)Agc>Tgc	p.S537C	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S537C|VCAN_ENST00000512590.2_Missense_Mutation_p.S489C|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	537	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAAATGGTAAGCACTGTTTC	0.408																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1609-1611)Agc>Tgc		versican							149.0	145.0	147.0					5																	82815734		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815734A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1609A>T	5.37:g.82815734A>T	ENSP00000265077:p.Ser537Cys					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S489C|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S537C	p.S537C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2174	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	537			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1609A>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.708832	0.30322	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86627	-2.05;-2.12;-2.15	5.58	3.21	0.36854	.	0.745176	0.12838	N	0.435090	D	0.86331	0.5907	L	0.54323	1.7	0.09310	N	1	D;D	0.59357	0.984;0.985	P;P	0.50192	0.634;0.527	T	0.76107	-0.3080	10	0.66056	D	0.02	.	6.7366	0.23413	0.6785:0.0:0.3215:0.0	.	537;537	P13611-3;P13611	.;CSPG2_HUMAN	C	537;537;489	ENSP00000265077:S537C;ENSP00000342768:S537C;ENSP00000425959:S489C	ENSP00000265077:S537C	S	+	1	0	VCAN	82851490	0.077000	0.21312	0.033000	0.17914	0.412000	0.31113	1.238000	0.32707	0.420000	0.25954	-0.250000	0.11733	AGC		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		21	86	0	0	0	1	0	21	86				
CDC5L	988	broad.mit.edu	37	6	44394340	44394340	+	Missense_Mutation	SNP	C	C	G	rs61753598		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:44394340C>G	ENST00000371477.3	+	13	2071	c.1772C>G	c.(1771-1773)cCt>cGt	p.P591R		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	591	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTACATCACCCTTATGAACCA	0.343																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1771-1773)cCt>cGt		cell division cycle 5-like		C	ARG/PRO	0,4406		0,0,2203	97.0	94.0	95.0		1772	5.7	1.0	6	dbSNP_129	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC5L	NM_001253.2	103	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	591/803	44394340	1,13005	2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44394340C>G	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1772C>G	6.37:g.44394340C>G	ENSP00000360532:p.Pro591Arg						p.P591R	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	2071	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		591			Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1772C>G	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366254	0.82463	0.0	1.16E-4	ENSG00000096401	ENST00000371477	T	0.59638	0.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	M	0.89214	3.015	0.80722	D	1	D	0.55172	0.97	P	0.58331	0.837	T	0.78398	-0.2219	10	0.66056	D	0.02	-14.782	18.0574	0.89367	0.0:1.0:0.0:0.0	rs61753598	591	Q99459	CDC5L_HUMAN	R	591	ENSP00000360532:P591R	ENSP00000360532:P591R	P	+	2	0	CDC5L	44502318	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.634000	0.67833	2.712000	0.92718	0.650000	0.86243	CCT		0.343	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			33	66	0	0	0	1	0	33	66				
GNL3L	54552	broad.mit.edu	37	X	54566675	54566675	+	Splice_Site	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:54566675G>T	ENST00000336470.4	+	4	328	c.189G>T	c.(187-189)tgG>tgT	p.W63C	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Splice_Site_p.W63C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	63					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AGAAGAAGTGGGTAAGCTTTT	0.493																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.e4+1		guanine nucleotide binding protein-like 3 (nucleolar)-like							85.0	73.0	77.0					X																	54566675		2203	4300	6503	SO:0001630	splice_region_variant	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54566675G>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.189+1G>T	X.37:g.54566675G>T						GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Splice_Site_p.W63_splice	p.W63_splice	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			4	328	+			63						Splice_Site	SNP	ENST00000336470.4	37	c.189_splice	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336310	0.24253	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.16897	2.31;2.31	4.57	3.69	0.42338	.	0.091244	0.85682	D	0.000000	T	0.08891	0.0220	N	0.08118	0	0.34976	D	0.753612	B	0.29805	0.257	B	0.30179	0.112	T	0.16867	-1.0388	10	0.72032	D	0.01	-19.1772	8.5672	0.33547	0.1153:0.0:0.8847:0.0	.	63	Q9NVN8	GNL3L_HUMAN	C	63	ENSP00000338573:W63C;ENSP00000354091:W63C	ENSP00000338573:W63C	W	+	3	0	GNL3L	54583400	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	3.039000	0.49791	0.986000	0.38683	0.600000	0.82982	TGG		0.493	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	Missense_Mutation	3	17	1	0	0.115264	1	0.116589	3	17				
GCNT4	51301	broad.mit.edu	37	5	74325454	74325454	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:74325454A>T	ENST00000322348.4	-	1	1270	c.409T>A	c.(409-411)Ttg>Atg	p.L137M		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	137					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TGGACAACCAAAGAATAGGCT	0.398																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(409-411)Ttg>Atg		glucosaminyl (N-acetyl) transferase 4, core 2							135.0	129.0	131.0					5																	74325454		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325454A>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.409T>A	5.37:g.74325454A>T	ENSP00000317027:p.Leu137Met						p.L137M	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1270	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	137						Missense_Mutation	SNP	ENST00000322348.4	37	c.409T>A	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	3.094	-0.186326	0.06340	.	.	ENSG00000176928	ENST00000322348	T	0.11712	2.75	6.17	-1.74	0.08056	.	0.210448	0.41001	D	0.000966	T	0.06188	0.0160	N	0.16790	0.44	0.22050	N	0.999391	P	0.39696	0.683	P	0.44561	0.453	T	0.41233	-0.9520	10	0.13470	T	0.59	-14.9899	6.8446	0.23980	0.5612:0.1168:0.3219:0.0	.	137	Q9P109	GCNT4_HUMAN	M	137	ENSP00000317027:L137M	ENSP00000317027:L137M	L	-	1	2	GCNT4	74361210	0.250000	0.23951	0.125000	0.21846	0.988000	0.76386	0.884000	0.28214	-0.270000	0.09285	-0.274000	0.10170	TTG		0.398	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		41	99	0	0	0	1	0	41	99				
ERBB4	2066	broad.mit.edu	37	2	212568853	212568853	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:212568853G>A	ENST00000342788.4	-	11	1575	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	ERBB4_ENST00000436443.1_Missense_Mutation_p.T422I|ERBB4_ENST00000402597.1_Missense_Mutation_p.T422I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	422					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCCACCAATGGTCACCAGGTT	0.388										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(1264-1266)aCc>aTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							121.0	119.0	120.0					2																	212568853		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212568853G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1265C>T	2.37:g.212568853G>A	ENSP00000342235:p.Thr422Ile	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.T422I|ERBB4_ENST00000436443.1_Missense_Mutation_p.T422I	p.T422I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	11	1575	-		Renal(323;0.06)|Lung NSC(271;0.197)	422					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1265C>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.51|10.51	1.370161|1.370161	0.24771|0.24771	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.78126	.|-1.15;-1.15;-1.15	6.02|6.02	6.02|6.02	0.97574|0.97574	.|EGF receptor, L domain (1);	.|0.043441	.|0.85682	.|D	.|0.000000	T|T	0.80053|0.80053	0.4553|0.4553	L|L	0.37561|0.37561	1.115|1.115	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;D;D;D	.|0.76494	.|0.997;0.487;0.989;0.997;0.999	.|D;B;D;D;D	.|0.76071	.|0.946;0.171;0.914;0.946;0.987	T|T	0.72557|0.72557	-0.4257|-0.4257	5|10	.|0.05525	.|T	.|0.97	.|.	15.2786|15.2786	0.73764|0.73764	0.0:0.0:0.8599:0.1401|0.0:0.0:0.8599:0.1401	.|.	.|422;422;281;422;422	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	S|I	422|422	.|ENSP00000342235:T422I;ENSP00000403204:T422I;ENSP00000385565:T422I	.|ENSP00000342235:T422I	P|T	-|-	1|2	0|0	ERBB4|ERBB4	212277098|212277098	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	7.871000|7.871000	0.87180|0.87180	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.388	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		40	67	0	0	0	1	0	40	67				
POM121L12	285877	broad.mit.edu	37	7	53104001	53104001	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:53104001C>G	ENST00000408890.4	+	1	653	c.637C>G	c.(637-639)Cgg>Ggg	p.R213G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	213										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCAGCCCCGGCCCTCTGC	0.672																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(637-639)Cgg>Ggg		POM121 transmembrane nucleoporin-like 12							45.0	55.0	52.0					7																	53104001		1974	4130	6104	SO:0001583	missense	285877							g.chr7:53104001C>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.637C>G	7.37:g.53104001C>G	ENSP00000386133:p.Arg213Gly						p.R213G	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	653	+			213					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.637C>G	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	2.222	-0.378143	0.05000	.	.	ENSG00000221900	ENST00000408890	T	0.07908	3.15	1.8	0.644	0.17776	.	.	.	.	.	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	D	0.65233	0.933	T	0.25537	-1.0129	9	0.66056	D	0.02	.	4.709	0.12863	0.627:0.373:0.0:0.0	.	213	Q8N7R1	P1L12_HUMAN	G	213	ENSP00000386133:R213G	ENSP00000386133:R213G	R	+	1	2	POM121L12	53071495	0.000000	0.05858	0.069000	0.20011	0.053000	0.15095	-0.015000	0.12634	0.178000	0.19917	-0.397000	0.06425	CGG		0.672	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		26	380	0	0	0	1	0	26	380				
KCTD8	386617	broad.mit.edu	37	4	44450084	44450084	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:44450084G>C	ENST00000360029.3	-	1	740	c.457C>G	c.(457-459)Cag>Gag	p.Q153E	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	153					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGAGAGTTCTGCTTGGTGACC	0.672										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(457-459)Cag>Gag		potassium channel tetramerization domain containing 8							22.0	18.0	19.0					4																	44450084		2170	4216	6386	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450084G>C	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.457C>G	4.37:g.44450084G>C	ENSP00000353129:p.Gln153Glu	HNSCC(17;0.042)				AC131951.1_ENST00000584757.1_RNA	p.Q153E	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	740	-			153					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.457C>G	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372101	0.42003	.	.	ENSG00000183783	ENST00000360029	T	0.42131	0.98	4.23	3.37	0.38596	BTB/POZ-like (1);BTB/POZ fold (2);	0.075357	0.53938	D	0.000053	T	0.31040	0.0784	L	0.31207	0.915	0.37303	D	0.908781	B	0.24823	0.112	B	0.24006	0.05	T	0.19778	-1.0295	10	0.34782	T	0.22	.	12.9972	0.58654	0.0:0.1638:0.8362:0.0	.	153	Q6ZWB6	KCTD8_HUMAN	E	153	ENSP00000353129:Q153E	ENSP00000353129:Q153E	Q	-	1	0	KCTD8	44144841	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.277000	0.72608	0.958000	0.37956	0.585000	0.79938	CAG		0.672	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			14	32	0	0	0	1	0	14	32				
DNAH5	1767	broad.mit.edu	37	5	13900315	13900315	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:13900315C>A	ENST00000265104.4	-	15	2363	c.2259G>T	c.(2257-2259)aaG>aaT	p.K753N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	753	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTAGTATACCTTCATGTTAC	0.413									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e15+1		dynein, axonemal, heavy chain 5							66.0	70.0	69.0					5																	13900315		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13900315C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2259+1G>T	5.37:g.13900315C>A							p.K753_splice	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			15	2363	-	Lung NSC(4;0.00476)		753			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.2259_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293674	0.60086	.	.	ENSG00000039139	ENST00000265104	T	0.55760	0.5	5.51	5.51	0.81932	Dynein heavy chain, domain-1 (1);	0.106981	0.64402	D	0.000004	T	0.40886	0.1135	N	0.22421	0.69	0.58432	D	0.999996	B	0.20550	0.046	B	0.24974	0.057	T	0.19943	-1.0290	9	.	.	.	.	16.4078	0.83697	0.0:0.8686:0.1314:0.0	.	753	Q8TE73	DYH5_HUMAN	N	753	ENSP00000265104:K753N	.	K	-	3	2	DNAH5	13953315	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.170000	0.42443	2.588000	0.87417	0.655000	0.94253	AAG		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Missense_Mutation	23	45	1	0	1.50039e-11	1	1.84234e-11	23	45				
DMKN	93099	broad.mit.edu	37	19	36004080	36004080	+	Missense_Mutation	SNP	C	C	A	rs375307828		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:36004080C>A	ENST00000339686.3	-	1	474	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G100W|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.G100W|DMKN_ENST00000424570.2_Missense_Mutation_p.G100W|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G100W|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.G100W|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G100W|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.G100W	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	100	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGCTTCCCCGACCCTGTTG	0.597																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(298-300)Ggg>Tgg		dermokine							138.0	110.0	120.0					19																	36004080		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36004080C>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.298G>T	19.37:g.36004080C>A	ENSP00000342012:p.Gly100Trp					DMKN_ENST00000429837.1_Missense_Mutation_p.G100W|DMKN_ENST00000440396.1_Missense_Mutation_p.G100W|DMKN_ENST00000419602.1_Missense_Mutation_p.G100W|DMKN_ENST00000451297.2_Missense_Mutation_p.G100W|DMKN_ENST00000418261.1_Missense_Mutation_p.G100W|DMKN_ENST00000447113.2_Missense_Mutation_p.G100W|DMKN_ENST00000424570.2_Missense_Mutation_p.G100W	p.G100W	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	474	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		100			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.298G>T	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851780	0.51270	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.24350	2.44;2.25;2.23;1.9;1.86;1.94;1.93;1.87	3.43	-0.326	0.12698	.	0.649201	0.12782	N	0.439565	T	0.36690	0.0976	L	0.50333	1.59	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.98;0.999;0.999;0.98;0.98;0.963;0.98	T	0.14309	-1.0477	10	0.87932	D	0	-0.2	3.603	0.08031	0.0:0.4591:0.1917:0.3493	.	100;100;100;100;100;100;100	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	W	100	ENSP00000342012:G100W;ENSP00000405503:G100W;ENSP00000391036:G100W;ENSP00000394908:G100W;ENSP00000415277:G100W;ENSP00000414743:G100W;ENSP00000388404:G100W;ENSP00000409513:G100W	ENSP00000342012:G100W	G	-	1	0	DMKN	40695920	0.001000	0.12720	0.129000	0.21949	0.472000	0.32918	0.209000	0.17435	0.159000	0.19401	0.491000	0.48974	GGG		0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		23	73	1	0	1.64293e-13	1	2.07528e-13	23	73				
ZNF17	7565	broad.mit.edu	37	19	57931275	57931275	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:57931275A>T	ENST00000601808.1	+	3	628	c.415A>T	c.(415-417)Agt>Tgt	p.S139C	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Missense_Mutation_p.S151C|ZNF17_ENST00000307658.7_Missense_Mutation_p.S141C	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGTGAATGACAGTGTTCACCT	0.493																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(421-423)Agt>Tgt		zinc finger protein 17							119.0	121.0	120.0					19																	57931275		2202	4300	6502	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931275A>T	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.415A>T	19.37:g.57931275A>T	ENSP00000471905:p.Ser139Cys					AC003002.6_ENST00000596400.1_Missense_Mutation_p.151_151insC|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.S139C	p.S141C			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	684	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	139					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.421A>T	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.499017	0.26861	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.55	0.485	0.16830	.	.	.	.	.	T	0.40886	0.1135	L	0.45352	1.415	0.09310	N	1	D;D	0.69078	0.997;0.983	D;P	0.63793	0.918;0.57	T	0.19516	-1.0303	8	0.35671	T	0.21	.	3.3819	0.07257	0.7667:0.0:0.2333:0.0	.	141;139	P17021-2;P17021	.;ZNF17_HUMAN	C	139	.	ENSP00000302455:S139C	S	+	1	0	ZNF17	62623087	0.000000	0.05858	0.002000	0.10522	0.099000	0.18886	0.018000	0.13422	0.081000	0.16988	0.528000	0.53228	AGT		0.493	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		46	71	0	0	0	1	0	46	71				
ZIC1	7545	broad.mit.edu	37	3	147130366	147130366	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:147130366C>A	ENST00000282928.4	+	2	1773	c.1044C>A	c.(1042-1044)gaC>gaA	p.D348E		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACAGCAGCGACCGCAAGAAGC	0.537																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1042-1044)gaC>gaA		Zic family member 1							126.0	103.0	110.0					3																	147130366		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130366C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1044C>A	3.37:g.147130366C>A	ENSP00000282928:p.Asp348Glu						p.D348E	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			2	1773	+			348					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1044C>A	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.32|19.32	3.805805|3.805805	0.70682|0.70682	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000282928|ENST00000488404	T|.	0.07216|.	3.21|.	3.48|3.48	2.57|2.57	0.30868|0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.40247|0.40247	0.1109|0.1109	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999995|0.999995	P|.	0.42692|.	0.787|.	P|.	0.44561|.	0.453|.	T|T	0.08994|0.08994	-1.0695|-1.0695	10|5	0.87932|.	D|.	0|.	.|.	6.9993|6.9993	0.24801|0.24801	0.0:0.7812:0.0:0.2188|0.0:0.7812:0.0:0.2188	.|.	348|.	Q15915|.	ZIC1_HUMAN|.	E|N	348|37	ENSP00000282928:D348E|.	ENSP00000282928:D348E|.	D|T	+|+	3|2	2|0	ZIC1|ZIC1	148613056|148613056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.382000|1.382000	0.34374|0.34374	0.623000|0.623000	0.30267|0.30267	0.462000|0.462000	0.41574|0.41574	GAC|ACC		0.537	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		36	116	1	0	6.29468e-14	1	8.04744e-14	36	116				
RBMXL1	494115	broad.mit.edu	37	1	89449354	89449354	+	Silent	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:89449354A>T	ENST00000321792.5	-	2	583	c.156T>A	c.(154-156)gcT>gcA	p.A52A	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Silent_p.A52A|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	52	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										AGGTGACAAAAGCAAATCCTC	0.418											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399794.2																			0											c.(154-156)gcT>gcA		RNA binding motif protein, X-linked-like 1							185.0	178.0	180.0					1																	89449354		2203	4300	6503	SO:0001819	synonymous_variant	494115						nucleotide binding|RNA binding	g.chr1:89449354A>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.156T>A	1.37:g.89449354A>T			OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1267	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.A52A|CCBL2_ENST00000370491.3_Intron	p.A52A	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	871	-			52			RRM.			Silent	SNP	ENST00000321792.5	37	c.156T>A	CCDS716.1																																																																																				0.418	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		8	149	0	0	0	1	0	8	149				
PPM1G	5496	broad.mit.edu	37	2	27606441	27606441	+	Silent	SNP	C	C	T	rs149149429		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:27606441C>T	ENST00000344034.4	-	7	1257	c.993G>A	c.(991-993)gcG>gcA	p.A331A	PPM1G_ENST00000350803.4_Silent_p.A331A|ZNF513_ENST00000323703.6_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	331					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GGGCCACCACCGCTGTTGTAC	0.522																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(991-993)gcG>gcA		protein phosphatase, Mg2+/Mn2+ dependent, 1G		C		0,4406		0,0,2203	75.0	65.0	68.0		993	-10.0	0.4	2	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PPM1G	NM_177983.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		331/547	27606441	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27606441C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.993G>A	2.37:g.27606441C>T						PPM1G_ENST00000350803.4_Silent_p.A331A	p.A331A	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			7	1257	-	Acute lymphoblastic leukemia(172;0.155)		331						Silent	SNP	ENST00000344034.4	37	c.993G>A	CCDS1752.1																																																																																				0.522	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		10	16	0	0	0	1	0	10	16				
EPHA5	2044	broad.mit.edu	37	4	66361144	66361144	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:66361144A>G	ENST00000273854.3	-	4	1628	c.1028T>C	c.(1027-1029)tTc>tCc	p.F343S	EPHA5_ENST00000511294.1_Missense_Mutation_p.F343S|EPHA5_ENST00000354839.4_Missense_Mutation_p.F343S|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	343	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCTCTCCTGAAATAATCCTT	0.458										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1027-1029)tTc>tCc		EPH receptor A5							170.0	166.0	167.0					4																	66361144		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361144A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1028T>C	4.37:g.66361144A>G	ENSP00000273854:p.Phe343Ser	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.F343S|EPHA5_ENST00000354839.4_Missense_Mutation_p.F343S|EPHA5_ENST00000432638.2_Intron	p.F343S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1628	-			343			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1028T>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765075	0.49574	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97041	1.48;1.48;-4.22	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000028	D	0.96688	0.8919	L	0.56769	1.78	0.44570	D	0.997537	P;B;P;P	0.41748	0.462;0.013;0.597;0.761	B;B;P;B	0.49853	0.42;0.007;0.624;0.205	D	0.96373	0.9275	10	0.56958	D	0.05	.	11.3253	0.49446	0.8643:0.0:0.0:0.1357	.	343;343;343;343	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	343	ENSP00000273854:F343S;ENSP00000346899:F343S;ENSP00000427638:F343S	ENSP00000273854:F343S	F	-	2	0	EPHA5	66043739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.088000	0.41663	2.235000	0.73313	0.377000	0.23210	TTC		0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		52	44	0	0	0	1	0	52	44				
NRXN1	9378	broad.mit.edu	37	2	51254756	51254756	+	Missense_Mutation	SNP	G	G	T	rs546508545		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:51254756G>T	ENST00000406316.2	-	2	2132	c.656C>A	c.(655-657)gCg>gAg	p.A219E	NRXN1_ENST00000405581.1_Missense_Mutation_p.A219E|NRXN1_ENST00000404971.1_Missense_Mutation_p.A219E|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219E|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219E|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219E|NRXN1_ENST00000401669.2_Missense_Mutation_p.A219E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	219	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCCTCGCCCGCCTCGCACGG	0.716																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(655-657)gCg>gAg		neurexin 1							11.0	16.0	14.0					2																	51254756		2075	4153	6228	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254756G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.656C>A	2.37:g.51254756G>T	ENSP00000384311:p.Ala219Glu					NRXN1_ENST00000401669.2_Missense_Mutation_p.A219E|NRXN1_ENST00000406316.2_Missense_Mutation_p.A219E|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219E|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219E|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219E|NRXN1_ENST00000405581.1_Missense_Mutation_p.A219E	p.A219E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1995	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	219			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.656C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	3.362	-0.130203	0.06753	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.69561	0.25;0.27;-0.41;-0.31;-0.02;0.12;3.46	5.5	2.25	0.28309	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47135	0.1429	L	0.38175	1.15	0.31881	N	0.61848	B;B;B	0.22541	0.01;0.071;0.005	B;B;B	0.29716	0.027;0.106;0.001	T	0.46775	-0.9167	9	0.02654	T	1	.	2.7281	0.05219	0.1045:0.2055:0.5098:0.1801	.	219;219;219	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	E	219	ENSP00000385142:A219E;ENSP00000384311:A219E;ENSP00000434015:A219E;ENSP00000385017:A219E;ENSP00000385434:A219E;ENSP00000385681:A219E;ENSP00000385310:A219E	ENSP00000385017:A219E	A	-	2	0	NRXN1	51108260	0.841000	0.29509	1.000000	0.80357	0.960000	0.62799	0.812000	0.27211	1.268000	0.44264	0.563000	0.77884	GCG		0.716	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	9	1	0	0.00909568	1	0.00937992	4	9				
DCAF15	90379	broad.mit.edu	37	19	14065187	14065187	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:14065187G>C	ENST00000254337.6	+	2	189	c.168G>C	c.(166-168)aaG>aaC	p.K56N	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	56					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCTTCCGGAAGCTGCCTCCCC	0.672																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(166-168)aaG>aaC		DDB1 and CUL4 associated factor 15							56.0	47.0	50.0					19																	14065187		2203	4299	6502	SO:0001583	missense	90379							g.chr19:14065187G>C	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.168G>C	19.37:g.14065187G>C	ENSP00000254337:p.Lys56Asn						p.K56N	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			2	189	+			56					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.168G>C	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186483	0.78789	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	L	0.59436	1.845	0.50313	D	0.999863	D	0.76494	0.999	D	0.80764	0.994	T	0.78785	-0.2068	9	0.66056	D	0.02	-21.5414	16.592	0.84769	0.0:0.0:1.0:0.0	.	56	Q66K64	DCA15_HUMAN	N	56	.	ENSP00000254337:K56N	K	+	3	2	DCAF15	13926187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.840000	0.55843	2.194000	0.70268	0.558000	0.71614	AAG		0.672	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		13	57	0	0	0	1	0	13	57				
SLC18A3	6572	broad.mit.edu	37	10	50819588	50819588	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:50819588G>C	ENST00000374115.3	+	1	1242	c.802G>C	c.(802-804)Gcg>Ccg	p.A268P	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	268					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACCCTTCTCGGCGGCTGCACG	0.662																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(802-804)Gcg>Ccg		solute carrier family 18 (vesicular acetylcholine transporter), member 3							28.0	27.0	28.0					10																	50819588		2198	4298	6496	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819588G>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.802G>C	10.37:g.50819588G>C	ENSP00000363229:p.Ala268Pro					CHAT_ENST00000339797.1_Intron	p.A268P	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1242	+			268					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.802G>C	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392004	0.25118	.	.	ENSG00000187714	ENST00000374115	T	0.57595	0.39	5.42	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.334636	0.28230	U	0.016111	T	0.47600	0.1454	L	0.29908	0.895	0.09310	N	1	P	0.49696	0.927	P	0.52109	0.69	T	0.32348	-0.9910	10	0.31617	T	0.26	1.2023	9.0787	0.36538	0.0739:0.0:0.779:0.1471	.	268	Q16572	VACHT_HUMAN	P	268	ENSP00000363229:A268P	ENSP00000363229:A268P	A	+	1	0	SLC18A3	50489594	0.419000	0.25449	0.206000	0.23566	0.026000	0.11368	3.818000	0.55678	2.552000	0.86080	0.561000	0.74099	GCG		0.662	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		14	42	0	0	0	1	0	14	42				
TAS2R30	259293	broad.mit.edu	37	12	11285910	11285910	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:11285910T>C	ENST00000539585.1	-	1	1333	c.934A>G	c.(934-936)Aca>Gca	p.T312A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	312					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GCCCCTCTTGTGAATCTATGG	0.378																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(934-936)Aca>Gca		taste receptor, type 2, member 30							109.0	110.0	109.0					12																	11285910		1969	4182	6151	SO:0001583	missense	259293							g.chr12:11285910T>C	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.934A>G	12.37:g.11285910T>C	ENSP00000444736:p.Thr312Ala					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.T312A	NM_001097643.1	NP_001091112.1					1	1333	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.934A>G	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	5.867	0.344044	0.11126	.	.	ENSG00000256188	ENST00000539585	T	0.00724	5.78	2.09	-0.514	0.11958	.	.	.	.	.	T	0.00496	0.0016	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.45804	-0.9236	9	0.25751	T	0.34	.	1.5422	0.02557	0.3061:0.1994:0.0:0.4945	.	312	P59541	T2R30_HUMAN	A	312	ENSP00000444736:T312A	ENSP00000444736:T312A	T	-	1	0	TAS2R30	11177177	0.009000	0.17119	0.000000	0.03702	0.043000	0.13939	0.169000	0.16641	0.054000	0.16065	0.260000	0.18958	ACA		0.378	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		49	80	0	0	0	1	0	49	80				
ST6GAL1	6480	broad.mit.edu	37	3	186793575	186793575	+	Missense_Mutation	SNP	G	G	A	rs368118201		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:186793575G>A	ENST00000169298.3	+	8	1879	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R402Q|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R171Q	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	402					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCTGGCTTCCGGACCATTCAC	0.512																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1204-1206)cGg>cAg		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	74.0	77.0	76.0		1205,1205,512	4.0	1.0	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ST6GAL1	NM_003032.2,NM_173216.2,NM_173217.2	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	402/407,402/407,171/176	186793575	1,13005	2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793575G>A	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1205G>A	3.37:g.186793575G>A	ENSP00000169298:p.Arg402Gln					ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R402Q|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R171Q	p.R402Q	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1879	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		402					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.1205G>A	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797165	0.70567	0.0	1.16E-4	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T	0.24538	1.85;1.85	5.74	3.95	0.45737	.	0.648394	0.16262	N	0.222198	T	0.16214	0.0390	L	0.38838	1.175	0.40006	D	0.975225	P	0.39071	0.658	B	0.29524	0.103	T	0.05869	-1.0859	10	0.22109	T	0.4	-24.4113	10.4699	0.44631	0.1579:0.0:0.8421:0.0	.	402	P15907	SIAT1_HUMAN	Q	402;171;402	ENSP00000169298:R402Q;ENSP00000389337:R402Q	ENSP00000169298:R402Q	R	+	2	0	ST6GAL1	188276269	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	1.960000	0.40422	0.900000	0.36469	0.655000	0.94253	CGG		0.512	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		22	74	0	0	0	1	0	22	74				
SHROOM4	57477	broad.mit.edu	37	X	50377317	50377317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:50377317C>A	ENST00000289292.7	-	4	2039	c.1756G>T	c.(1756-1758)Gag>Tag	p.E586*	SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.E470*|SHROOM4_ENST00000376020.2_Nonsense_Mutation_p.E586*			Q9ULL8	SHRM4_HUMAN	shroom family member 4	586					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCAAAACGCTCACTCTTCCGC	0.582																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1756-1758)Gag>Tag		shroom family member 4							39.0	39.0	39.0					X																	50377317		2203	4300	6503	SO:0001587	stop_gained	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377317C>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1756G>T	X.37:g.50377317C>A	ENSP00000289292:p.Glu586*					SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.E470*|SHROOM4_ENST00000289292.7_Nonsense_Mutation_p.E586*	p.E586*	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1781	-	Ovarian(276;0.236)		586					A7E2X9|D6RFW0|Q96LA0	Nonsense_Mutation	SNP	ENST00000289292.7	37	c.1756G>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	39	7.595347	0.98381	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	.	.	.	6.06	6.06	0.98353	.	0.207647	0.41396	D	0.000890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.143	0.89646	0.0:1.0:0.0:0.0	.	.	.	.	X	586;586;470	.	ENSP00000289292:E586X	E	-	1	0	SHROOM4	50394057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.506000	0.66993	2.562000	0.86427	0.600000	0.82982	GAG		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		14	52	1	0	7.93312e-07	1	8.78132e-07	14	52				
CNTN2	6900	broad.mit.edu	37	1	205031676	205031676	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:205031676A>T	ENST00000331830.4	+	10	1503	c.1219A>T	c.(1219-1221)Agc>Tgc	p.S407C	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	407	Ig-like C2-type 4.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCTACGCCAGCGCCGAGCT	0.587																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1219-1221)Agc>Tgc		contactin 2 (axonal)							69.0	55.0	60.0					1																	205031676		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205031676A>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1219A>T	1.37:g.205031676A>T	ENSP00000330633:p.Ser407Cys						p.S407C	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		10	1503	+	all_cancers(21;0.144)|Breast(84;0.0437)		407			Ig-like C2-type 4.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.1219A>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.908126	0.72868	.	.	ENSG00000184144	ENST00000331830	T	0.69435	-0.4	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.75228	0.3821	M	0.75085	2.285	0.46609	D	0.999124	P;D	0.56968	0.82;0.978	P;P	0.51355	0.544;0.667	T	0.79671	-0.1706	10	0.87932	D	0	.	15.2611	0.73625	1.0:0.0:0.0:0.0	.	407;298	Q02246;Q68DA2	CNTN2_HUMAN;.	C	407	ENSP00000330633:S407C	ENSP00000330633:S407C	S	+	1	0	CNTN2	203298299	1.000000	0.71417	0.999000	0.59377	0.759000	0.43091	5.402000	0.66332	2.091000	0.63221	0.528000	0.53228	AGC		0.587	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		18	34	0	0	0	1	0	18	34				
DSP	1832	broad.mit.edu	37	6	7576593	7576593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:7576593C>A	ENST00000379802.3	+	19	3038	c.2697C>A	c.(2695-2697)tgC>tgA	p.C899*	DSP_ENST00000418664.2_Nonsense_Mutation_p.C899*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	899	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGCTTTCTGCAAGTGGCTCT	0.403																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2695-2697)tgC>tgA		desmoplakin							104.0	108.0	106.0					6																	7576593		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7576593C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2697C>A	6.37:g.7576593C>A	ENSP00000369129:p.Cys899*					DSP_ENST00000418664.2_Nonsense_Mutation_p.C899*	p.C899*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	19	3038	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	899			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.2697C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	44	10.712664	0.99455	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.1449	0.72643	0.0:0.9327:0.0:0.0673	.	.	.	.	X	899;899;704	.	ENSP00000369129:C899X	C	+	3	2	DSP	7521592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.773000	0.26661	1.562000	0.49601	0.655000	0.94253	TGC		0.403	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		29	61	1	0	1.68575e-08	1	1.93495e-08	29	61				
ANGEL1	23357	broad.mit.edu	37	14	77256962	77256962	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:77256962T>C	ENST00000251089.2	-	9	1956	c.1844A>G	c.(1843-1845)aAc>aGc	p.N615S	ANGEL1_ENST00000557179.1_Missense_Mutation_p.N180S	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	615										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACCAGTTCTGTTCCCATTCTC	0.537																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1843-1845)aAc>aGc		angel homolog 1 (Drosophila)							123.0	104.0	111.0					14																	77256962		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77256962T>C	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1844A>G	14.37:g.77256962T>C	ENSP00000251089:p.Asn615Ser					ANGEL1_ENST00000557179.1_Missense_Mutation_p.N180S	p.N615S	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	9	1956	-			615					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1844A>G	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	T	4.066	0.010086	0.07912	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.79653	1.89;-1.29	5.76	3.3	0.37823	Endonuclease/exonuclease/phosphatase (2);	0.791679	0.12427	N	0.469936	T	0.63628	0.2527	N	0.20685	0.6	0.26603	N	0.972988	B	0.02656	0.0	B	0.15052	0.012	T	0.48779	-0.9005	10	0.15066	T	0.55	-1.6483	6.3733	0.21493	0.0:0.0817:0.1588:0.7595	.	615	Q9UNK9	ANGE1_HUMAN	S	615;180	ENSP00000251089:N615S;ENSP00000451534:N180S	ENSP00000251089:N615S	N	-	2	0	ANGEL1	76326715	0.040000	0.19996	0.994000	0.49952	0.232000	0.25224	1.492000	0.35594	1.044000	0.40200	0.454000	0.30748	AAC		0.537	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		31	68	0	0	0	1	0	31	68				
ACMSD	130013	broad.mit.edu	37	2	135602814	135602814	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:135602814C>G	ENST00000356140.5	+	2	205	c.69C>G	c.(67-69)taC>taG	p.Y23*	ACMSD_ENST00000283054.4_5'UTR|ACMSD_ENST00000392928.1_5'UTR|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	23					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGTTTGGCTACGGAGGCTGGG	0.527																																						ENST00000356140.5																			0				endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14						c.(67-69)taC>taG		aminocarboxymuconate semialdehyde decarboxylase							97.0	93.0	94.0					2																	135602814		2029	4200	6229	SO:0001587	stop_gained	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135602814C>G	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.69C>G	2.37:g.135602814C>G	ENSP00000348459:p.Tyr23*					ACMSD_ENST00000283054.4_5'UTR|ACMSD_ENST00000392928.1_5'UTR|AC016725.4_ENST00000392929.2_RNA	p.Y23*	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	2	205	+			23					Q3B7X3|Q53SR5|Q96KY2	Nonsense_Mutation	SNP	ENST00000356140.5	37	c.69C>G	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529762	0.45073	.	.	ENSG00000153086	ENST00000356140	.	.	.	5.27	-8.71	0.00848	.	0.122142	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0907	16.9569	0.86262	0.0:0.6958:0.0:0.3042	.	.	.	.	X	23	.	ENSP00000348459:Y23X	Y	+	3	2	ACMSD	135319284	0.850000	0.29656	0.750000	0.31169	0.236000	0.25371	-0.768000	0.04715	-1.547000	0.01715	-2.299000	0.00261	TAC		0.527	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			20	68	0	0	0	1	0	20	68				
FMO1	2326	broad.mit.edu	37	1	171227265	171227265	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:171227265C>G	ENST00000354841.4	+	1	170	c.39C>G	c.(37-39)agC>agG	p.S13R	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.S13R|FMO1_ENST00000367750.3_Missense_Mutation_p.S13R	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	13					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CTGGGGTCAGCGGCCTGGCCT	0.572																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(37-39)agC>agG		flavin containing monooxygenase 1							76.0	74.0	75.0					1																	171227265		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171227265C>G	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.39C>G	1.37:g.171227265C>G	ENSP00000346901:p.Ser13Arg					FMO1_ENST00000367750.3_Missense_Mutation_p.S13R|FMO1_ENST00000402921.2_Missense_Mutation_p.S13R|FMO1_ENST00000469112.1_3'UTR	p.S13R			Q01740	FMO1_HUMAN			1	170	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		13					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.39C>G	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	c	15.82	2.947037	0.53186	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.56	-9.05	0.00730	.	0.343476	0.35262	N	0.003336	T	0.72566	0.3476	H	0.97732	4.065	0.22947	N	0.998523	B;D;D	0.89917	0.163;1.0;0.995	B;D;D	0.80764	0.179;0.994;0.963	T	0.73610	-0.3928	10	0.87932	D	0	-0.0789	10.0791	0.42379	0.0866:0.2684:0.0:0.645	.	13;13;13	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	R	13	ENSP00000356724:S13R;ENSP00000406982:S13R;ENSP00000385543:S13R;ENSP00000346901:S13R	ENSP00000346901:S13R	S	+	3	2	FMO1	169493889	0.003000	0.15002	0.477000	0.27303	0.712000	0.41017	-1.683000	0.01934	-1.796000	0.01253	-1.773000	0.00660	AGC		0.572	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		28	49	0	0	0	1	0	28	49				
REG1A	5967	broad.mit.edu	37	2	79349974	79349974	+	Missense_Mutation	SNP	G	G	T	rs200685695		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:79349974G>T	ENST00000233735.1	+	5	432	c.329G>T	c.(328-330)cGc>cTc	p.R110L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R110P(1)|p.R110H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TAGAACCGCCGCTGGCACTGG	0.552																																						ENST00000233735.1																			2	Substitution - Missense(2)	p.R110P(1)|p.R110H(1)	large_intestine(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(328-330)cGc>cTc		regenerating islet-derived 1 alpha							107.0	107.0	107.0					2																	79349974		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349974G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.329G>T	2.37:g.79349974G>T	ENSP00000233735:p.Arg110Leu						p.R110L	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			5	432	+			110			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.329G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	12.61	1.990623	0.35131	.	.	ENSG00000115386	ENST00000233735	T	0.18338	2.22	2.92	2.92	0.33932	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.391148	0.18799	N	0.130853	T	0.16300	0.0392	L	0.51914	1.62	0.29625	N	0.845867	B	0.20550	0.046	B	0.24541	0.054	T	0.06881	-1.0802	10	0.45353	T	0.12	.	9.4067	0.38466	0.0:0.0:1.0:0.0	.	110	P05451	REG1A_HUMAN	L	110	ENSP00000233735:R110L	ENSP00000233735:R110L	R	+	2	0	REG1A	79203482	0.014000	0.17966	0.948000	0.38648	0.801000	0.45260	0.744000	0.26245	1.637000	0.50538	0.557000	0.71058	CGC		0.552	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		32	93	1	0	1.60099e-16	1	2.09757e-16	32	93				
TG	7038	broad.mit.edu	37	8	133935670	133935670	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:133935670G>T	ENST00000220616.4	+	22	4656	c.4616G>T	c.(4615-4617)gGg>gTg	p.G1539V	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1539	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGGGCAGTGGGAAGGCCTTC	0.587																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4615-4617)gGg>gTg		thyroglobulin							92.0	85.0	87.0					8																	133935670		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935670G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4616G>T	8.37:g.133935670G>T	ENSP00000220616:p.Gly1539Val					TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.G1539V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4656	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1539			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4616G>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981673|2.981673	0.53827|0.53827	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000543313;ENST00000220616|ENST00000519178	D|.	0.85171|.	-1.95|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Thyroglobulin type-1 (5);|.	0.221905|.	0.32134|.	N|.	0.006523|.	T|T	0.72317|0.72317	0.3445|0.3445	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.45037|.	0.467|.	T|T	0.72934|0.72934	-0.4141|-0.4141	10|5	0.87932|.	D|.	0|.	.|.	13.429|13.429	0.61044|0.61044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1539|.	P01266|.	THYG_HUMAN|.	V|C	345;1539|58	ENSP00000220616:G1539V|.	ENSP00000220616:G1539V|.	G|W	+|+	2|3	0|0	TG|TG	134004852|134004852	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.581000|0.581000	0.36288|0.36288	3.827000|3.827000	0.55745|0.55745	2.247000|2.247000	0.74100|0.74100	0.555000|0.555000	0.69702|0.69702	GGG|TGG		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		29	60	1	0	2.48779e-11	1	3.04064e-11	29	60				
SLC32A1	140679	broad.mit.edu	37	20	37356657	37356657	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:37356657C>A	ENST00000217420.1	+	2	1216	c.953C>A	c.(952-954)aCg>aAg	p.T318K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	318					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCAGCTACACGTCTCAGATC	0.567																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(952-954)aCg>aAg		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						81.0	64.0	70.0					20																	37356657		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356657C>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.953C>A	20.37:g.37356657C>A	ENSP00000217420:p.Thr318Lys						p.T318K	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	1216	+		Myeloproliferative disorder(115;0.00878)	318					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.953C>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880473	0.33255	.	.	ENSG00000101438	ENST00000217420	T	0.02606	4.23	4.73	3.79	0.43588	.	0.052258	0.85682	D	0.000000	T	0.13628	0.0330	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00551	-1.1675	10	0.46703	T	0.11	-18.5067	10.9941	0.47565	0.0:0.9067:0.0:0.0933	.	318	Q9H598	VIAAT_HUMAN	K	318	ENSP00000217420:T318K	ENSP00000217420:T318K	T	+	2	0	SLC32A1	36790071	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	7.756000	0.85195	1.141000	0.42275	-0.379000	0.06801	ACG		0.567	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		22	52	1	0	1.96292e-10	1	2.34485e-10	22	52				
SIGLEC12	89858	broad.mit.edu	37	19	52000204	52000204	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:52000204G>T	ENST00000291707.3	-	7	1584	c.1529C>A	c.(1528-1530)gCa>gAa	p.A510E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.A392E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	510					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCTGGCCTTGCCGATTTCTT	0.592																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1528-1530)gCa>gAa		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							150.0	119.0	130.0					19																	52000204		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52000204G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1529C>A	19.37:g.52000204G>T	ENSP00000291707:p.Ala510Glu					SIGLEC12_ENST00000598614.1_Missense_Mutation_p.A392E	p.A510E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	1584	-		all_neural(266;0.0199)	510					Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1529C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	7.162	0.585880	0.13749	.	.	ENSG00000254521	ENST00000291707	T	0.39787	1.06	1.7	0.558	0.17266	.	.	.	.	.	T	0.53465	0.1798	M	0.72894	2.215	0.09310	N	1	P;D	0.54207	0.786;0.965	B;P	0.60949	0.316;0.881	T	0.39143	-0.9628	9	0.59425	D	0.04	.	5.1562	0.15036	0.0:0.0:0.655:0.345	.	510;392	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	E	510	ENSP00000291707:A510E	ENSP00000291707:A510E	A	-	2	0	SIGLEC12	56692016	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.921000	0.28718	0.263000	0.21812	-0.455000	0.05494	GCA		0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		33	54	1	0	1.67305e-13	1	2.10828e-13	33	54				
FLG	2312	broad.mit.edu	37	1	152278979	152278979	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:152278979C>T	ENST00000368799.1	-	3	8418	c.8383G>A	c.(8383-8385)Gga>Aga	p.G2795R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2795	Ser-rich.				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)			TGCCTTCCTCCTCTGCTTGAC	0.592									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.(8383-8385)Gga>Aga		filaggrin							256.0	350.0	318.0					1																	152278979		2193	4296	6489	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.chr1:152278979C>T	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.8383G>A	1.37:g.152278979C>T	ENSP00000357789:p.Gly2795Arg					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2795R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8418	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2795			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8383G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778710	0.31502	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00745	5.75	4.2	-8.4	0.00965	.	.	.	.	.	T	0.00241	0.0007	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.42378	-0.9455	9	0.31617	T	0.26	.	3.9348	0.09301	0.1234:0.4975:0.1245:0.2546	.	2795	P20930	FILA_HUMAN	R	2795;57	ENSP00000357789:G2795R	ENSP00000357786:G57R	G	-	1	0	FLG	150545603	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.822000	0.01711	-1.446000	0.01945	0.306000	0.20318	GGA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		77	424	0	0	0	1	0	77	424				
WDFY3	23001	broad.mit.edu	37	4	85724475	85724475	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:85724475G>C	ENST00000295888.4	-	16	2982	c.2575C>G	c.(2575-2577)Ctg>Gtg	p.L859V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.L859V|WDFY3_ENST00000512267.1_5'UTR	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	859					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAGAGGCCAGTAGGTCCAGC	0.443																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2575-2577)Ctg>Gtg		WD repeat and FYVE domain containing 3							72.0	66.0	68.0					4																	85724475		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85724475G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2575C>G	4.37:g.85724475G>C	ENSP00000295888:p.Leu859Val					WDFY3_ENST00000295888.4_Missense_Mutation_p.L859V|WDFY3_ENST00000512267.1_5'UTR|WDFY3-AS1_ENST00000510449.1_RNA	p.L859V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	16	2982	-		Hepatocellular(203;0.114)	859					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2575C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136563	0.56936	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.45276	0.9;0.9	5.74	2.54	0.30619	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.78049	2.395	0.80722	D	1	D	0.59767	0.986	P	0.56563	0.801	T	0.57388	-0.7820	10	0.87932	D	0	.	8.3427	0.32254	0.22:0.1173:0.6627:0.0	.	859	Q8IZQ1	WDFY3_HUMAN	V	859	ENSP00000318466:L859V;ENSP00000295888:L859V	ENSP00000295888:L859V	L	-	1	2	WDFY3	85943499	1.000000	0.71417	0.996000	0.52242	0.497000	0.33675	3.648000	0.54410	0.729000	0.32403	0.650000	0.86243	CTG		0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		14	32	0	0	0	1	0	14	32				
PTH	5741	broad.mit.edu	37	11	13514017	13514017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:13514017C>A	ENST00000282091.1	-	3	397	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	PTH_ENST00000529816.1_Nonsense_Mutation_p.E95*	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	95					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.E95K(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AGACTTTTTTCATGGCTCTCA	0.438																																						ENST00000282091.1																			1	Substitution - Missense(1)	p.E95K(1)	lung(1)	endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(283-285)Gaa>Taa		parathyroid hormone							122.0	112.0	115.0					11																	13514017		2200	4294	6494	SO:0001587	stop_gained	5741				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	g.chr11:13514017C>A	J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.283G>T	11.37:g.13514017C>A	ENSP00000282091:p.Glu95*					PTH_ENST00000529816.1_Nonsense_Mutation_p.E95*	p.E95*	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)	3	397	-			95					Q4VB48|Q9UD38	Nonsense_Mutation	SNP	ENST00000282091.1	37	c.283G>T	CCDS7812.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815229	0.32053	.	.	ENSG00000152266	ENST00000282091;ENST00000529816	.	.	.	5.95	2.83	0.33086	.	0.768860	0.12356	N	0.476081	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.2621	11.7961	0.52100	0.071:0.255:0.674:0.0	.	.	.	.	X	95	.	ENSP00000282091:E95X	E	-	1	0	PTH	13470593	0.226000	0.23696	0.619000	0.29118	0.169000	0.22640	1.180000	0.32005	0.832000	0.34804	-0.171000	0.13296	GAA		0.438	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315		40	28	1	0	4.40281e-34	1	6.7578e-34	40	28				
DENND5B	160518	broad.mit.edu	37	12	31545284	31545284	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:31545284A>G	ENST00000389082.5	-	19	3647	c.3383T>C	c.(3382-3384)gTt>gCt	p.V1128A	DENND5B_ENST00000536562.1_Missense_Mutation_p.V1163A|DENND5B_ENST00000306833.6_Missense_Mutation_p.V1163A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1128	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGGGCTGCAACCAGGCCATT	0.448																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3382-3384)gTt>gCt		DENN/MADD domain containing 5B							59.0	57.0	58.0					12																	31545284		1914	4123	6037	SO:0001583	missense	160518					integral to membrane		g.chr12:31545284A>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3383T>C	12.37:g.31545284A>G	ENSP00000373734:p.Val1128Ala					DENND5B_ENST00000536562.1_Missense_Mutation_p.V1163A|DENND5B_ENST00000306833.6_Missense_Mutation_p.V1163A	p.V1128A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			19	3647	-			1128			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3383T>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348838	0.82132	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.26067	1.76;1.76;1.76	4.59	4.59	0.56863	RUN (2);	0.000000	0.64402	D	0.000002	T	0.52917	0.1764	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60244	-0.7301	10	0.87932	D	0	-1.8787	14.4139	0.67135	1.0:0.0:0.0:0.0	.	1128;1163	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	A	1128;1163;1163	ENSP00000373734:V1128A;ENSP00000306482:V1163A;ENSP00000444889:V1163A	ENSP00000306482:V1163A	V	-	2	0	DENND5B	31436551	1.000000	0.71417	0.907000	0.35723	0.789000	0.44602	8.897000	0.92532	2.048000	0.60808	0.459000	0.35465	GTT		0.448	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		12	27	0	0	0	1	0	12	27				
CNOT2	4848	broad.mit.edu	37	12	70724182	70724182	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:70724182A>G	ENST00000418359.3	+	7	953	c.502A>G	c.(502-504)Aga>Gga	p.R168G	CNOT2_ENST00000229195.3_Missense_Mutation_p.R168G|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	168					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TAGCCCCAACAGAAGCTCGCC	0.448																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(502-504)Aga>Gga		CCR4-NOT transcription complex, subunit 2							144.0	137.0	140.0					12																	70724182		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70724182A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.502A>G	12.37:g.70724182A>G	ENSP00000412091:p.Arg168Gly					CNOT2_ENST00000418359.3_Missense_Mutation_p.R168G|CNOT2_ENST00000548230.1_3'UTR	p.R168G	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		6	1081	+	Renal(347;0.236)		168					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.502A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481300	0.63849	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.48201	0.84;0.84;0.82;0.84	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.32530	0.975	0.58432	D	0.999998	D	0.58268	0.982	P	0.46825	0.528	T	0.15037	-1.0451	10	0.21540	T	0.41	-8.9307	12.5123	0.56013	0.8609:0.1391:0.0:0.0	.	168	Q9NZN8	CNOT2_HUMAN	G	168;168;168;148;159;168;168;83;168	ENSP00000229195:R168G;ENSP00000412091:R168G;ENSP00000449659:R159G;ENSP00000449260:R168G	ENSP00000229195:R168G	R	+	1	2	CNOT2	69010449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.233000	0.73108	0.455000	0.32223	AGA		0.448	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			51	87	0	0	0	1	0	51	87				
EDIL3	10085	broad.mit.edu	37	5	83402601	83402601	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:83402601G>T	ENST00000296591.5	-	6	935	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	EDIL3_ENST00000380138.3_Missense_Mutation_p.Q163K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	173	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTGTGATTTGCTGGTTTGAT	0.393																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(517-519)Caa>Aaa		EGF-like repeats and discoidin I-like domains 3							175.0	185.0	182.0					5																	83402601		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83402601G>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.517C>A	5.37:g.83402601G>T	ENSP00000296591:p.Gln173Lys					EDIL3_ENST00000380138.3_Missense_Mutation_p.Q163K	p.Q173K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	6	935	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	173			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.517C>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642208	0.87859	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98362	-4.89;-4.89	5.76	4.88	0.63580	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.180844	0.52532	N	0.000078	D	0.99121	0.9697	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	0.982;1.0	D;D	0.77557	0.968;0.99	D	0.99201	1.0873	10	0.87932	D	0	-18.1969	16.0539	0.80782	0.0:0.0:0.8646:0.1354	.	163;173	O43854-2;O43854	.;EDIL3_HUMAN	K	173;163	ENSP00000296591:Q173K;ENSP00000369483:Q163K	ENSP00000296591:Q173K	Q	-	1	0	EDIL3	83438357	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.209000	0.95087	1.418000	0.47098	0.650000	0.86243	CAA		0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		39	80	1	0	1.30998e-17	1	1.74664e-17	39	80				
DCHS2	54798	broad.mit.edu	37	4	155237080	155237080	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:155237080C>T	ENST00000357232.4	-	15	3714	c.3715G>A	c.(3715-3717)Gtt>Att	p.V1239I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1239	Cadherin 10. {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)		AGTGCCAGAACAGTCAGAATA	0.383																																						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.(3715-3717)Gtt>Att		dachsous cadherin-related 2							131.0	125.0	127.0					4																	155237080		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155237080C>T	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.3715G>A	4.37:g.155237080C>T	ENSP00000349768:p.Val1239Ile						p.V1239I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3714	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1239			Cadherin 10.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3715G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	0.995	-0.692768	0.03303	.	.	ENSG00000197410	ENST00000357232	T	0.48836	0.8	5.25	-0.149	0.13420	Cadherin (5);Cadherin-like (1);	0.583090	0.16076	N	0.230753	T	0.26991	0.0661	L	0.27053	0.805	0.80722	D	1	B	0.20550	0.046	B	0.22152	0.038	T	0.25745	-1.0123	10	0.02654	T	1	.	9.6202	0.39716	0.0:0.466:0.2459:0.2881	.	1239	Q6V1P9	PCD23_HUMAN	I	1239	ENSP00000349768:V1239I	ENSP00000349768:V1239I	V	-	1	0	DCHS2	155456530	0.000000	0.05858	0.049000	0.19019	0.456000	0.32438	-0.223000	0.09177	0.006000	0.14734	-0.515000	0.04445	GTT		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		12	23	0	0	0	1	0	12	23				
DPP6	1804	broad.mit.edu	37	7	154143352	154143352	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:154143352A>G	ENST00000377770.3	+	2	438	c.297A>G	c.(295-297)gcA>gcG	p.A99A	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.A37A|DPP6_ENST00000427557.1_Silent_p.A37A|DPP6_ENST00000406326.1_Silent_p.A99A|DPP6_ENST00000404039.1_Silent_p.A35A			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	99					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TAGCAATTGCACTGCTTGTCA	0.458																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(103-105)gcA>gcG		dipeptidyl-peptidase 6							163.0	165.0	165.0					7																	154143352		1964	4145	6109	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154143352A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.297A>G	7.37:g.154143352A>G						DPP6_ENST00000427557.1_Silent_p.A37A|DPP6_ENST00000406326.1_Silent_p.A99A|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Silent_p.A99A|DPP6_ENST00000332007.3_Silent_p.A37A	p.A35A	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		2	692	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	99						Silent	SNP	ENST00000377770.3	37	c.105A>G																																																																																					0.458	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		24	49	0	0	0	1	0	24	49				
RTN1	6252	broad.mit.edu	37	14	60193939	60193939	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:60193939G>T	ENST00000267484.5	-	3	1798	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	488					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTCATCGGGGGTGAGTCCTG	0.726																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1462-1464)cCc>cAc		reticulon 1							7.0	8.0	8.0					14																	60193939		2170	4240	6410	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193939G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1463C>A	14.37:g.60193939G>T	ENSP00000267484:p.Pro488His						p.P488H	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1798	-			488					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1463C>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940372	0.73557	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.32753	1.44	5.37	5.37	0.77165	.	0.358521	0.26560	N	0.023696	T	0.53449	0.1797	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.56438	-0.7979	10	0.87932	D	0	.	19.0867	0.93206	0.0:0.0:1.0:0.0	.	488	Q16799	RTN1_HUMAN	H	68;488;414	ENSP00000267484:P488H	ENSP00000267484:P488H	P	-	2	0	RTN1	59263692	1.000000	0.71417	0.992000	0.48379	0.505000	0.33919	5.989000	0.70587	2.517000	0.84864	0.655000	0.94253	CCC		0.726	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			5	6	1	0	3.59834e-05	1	3.8538e-05	5	6				
E2F4	1874	broad.mit.edu	37	16	67226983	67226983	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:67226983A>T	ENST00000379378.3	+	3	376	c.317A>T	c.(316-318)gAg>gTg	p.E106V	E2F4_ENST00000564718.1_3'UTR|EXOC3L1_ENST00000314586.6_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	106	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GAGATCGAGGAGCTGCAGCAG	0.592																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(316-318)gAg>gTg		E2F transcription factor 4, p107/p130-binding							39.0	33.0	35.0					16																	67226983		2191	4292	6483	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67226983A>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.317A>T	16.37:g.67226983A>T	ENSP00000368686:p.Glu106Val					E2F4_ENST00000564718.1_3'UTR	p.E106V	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	3	376	+		Ovarian(137;0.0563)	106			Dimerization (Potential).		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.317A>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390032	0.61956	.	.	ENSG00000205250	ENST00000379378	D	0.84660	-1.88	4.43	4.43	0.53597	.	0.104187	0.64402	D	0.000005	T	0.82250	0.4996	L	0.49571	1.57	0.52501	D	0.999958	B	0.26258	0.145	B	0.31191	0.125	T	0.81980	-0.0684	10	0.72032	D	0.01	-10.1223	12.6478	0.56744	1.0:0.0:0.0:0.0	.	106	Q16254	E2F4_HUMAN	V	106	ENSP00000368686:E106V	ENSP00000368686:E106V	E	+	2	0	E2F4	65784484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.083000	0.71326	1.863000	0.54032	0.383000	0.25322	GAG		0.592	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		6	1	0	0	0	1	0	6	1				
POTEH	23784	broad.mit.edu	37	22	16267027	16267027	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:16267027G>T	ENST00000343518.6	-	9	1473	c.1422C>A	c.(1420-1422)gcC>gcA	p.A474A		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474								p.A474A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGTCAGCAGTGGCACCGTTAG	0.408																																						ENST00000343518.6																			1	Substitution - coding silent(1)	p.A474A(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1420-1422)gcC>gcA		POTE ankyrin domain family, member H							530.0	432.0	462.0					22																	16267027		692	1591	2283	SO:0001819	synonymous_variant	23784							g.chr22:16267027G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1422C>A	22.37:g.16267027G>T							p.A474A	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			9	1473	-			474					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.1422C>A	CCDS46658.1																																																																																				0.408	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		47	504	1	0	9.22156e-22	1	1.31594e-21	47	504				
DEFB118	117285	broad.mit.edu	37	20	29960671	29960671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:29960671G>T	ENST00000253381.2	+	2	103	c.70G>T	c.(70-72)Gaa>Taa	p.E24*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	24					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTATAGTGGTGAAAAAAAATG	0.398																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(70-72)Gaa>Taa		defensin, beta 118							73.0	72.0	72.0					20																	29960671		2203	4300	6503	SO:0001587	stop_gained	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960671G>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.70G>T	20.37:g.29960671G>T	ENSP00000253381:p.Glu24*						p.E24*	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	103	+	all_hematologic(12;0.158)		24					Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	c.70G>T	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	G	9.900	1.206570	0.22205	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.67	-3.91	0.04168	.	2.241550	0.02157	N	0.058473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-7.3308	5.5741	0.17212	0.2857:0.3479:0.3664:0.0	.	.	.	.	X	24	.	ENSP00000253381:E24X	E	+	1	0	DEFB118	29424332	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.991000	0.03728	-0.748000	0.04753	-0.175000	0.13238	GAA		0.398	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		14	38	1	0	9.31168e-06	1	1.00956e-05	14	38				
CPQ	10404	broad.mit.edu	37	8	97892202	97892202	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:97892202C>T	ENST00000220763.5	+	4	1028	c.818C>T	c.(817-819)gCa>gTa	p.A273V		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	273					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AACACTGTAGCAGAGATCACT	0.423																																						ENST00000220763.5																			0											c.(817-819)gCa>gTa		carboxypeptidase Q							161.0	162.0	162.0					8																	97892202		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97892202C>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.818C>T	8.37:g.97892202C>T	ENSP00000220763:p.Ala273Val						p.A273V	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			4	1028	+			273					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.818C>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969129	0.92855	.	.	ENSG00000104324	ENST00000220763	T	0.55930	0.49	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.65595	0.2706	M	0.64567	1.98	0.54753	D	0.999986	D;D	0.57571	0.98;0.98	P;P	0.55615	0.78;0.677	T	0.67937	-0.5541	10	0.72032	D	0.01	-15.4434	17.0074	0.86397	0.0:1.0:0.0:0.0	.	273;273	B5MDX4;Q9Y646	.;PGCP_HUMAN	V	273	ENSP00000220763:A273V	ENSP00000220763:A273V	A	+	2	0	AC010859.1	97961378	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.509000	0.81698	2.694000	0.91930	0.586000	0.80456	GCA		0.423	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		45	103	0	0	0	1	0	45	103				
DTL	51514	broad.mit.edu	37	1	212274331	212274331	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:212274331G>T	ENST00000366991.4	+	14	2313	c.1999G>T	c.(1999-2001)Gca>Tca	p.A667S	RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000542077.1_Missense_Mutation_p.A625S|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	667					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GTTGGCCATGGCAGCCAAACG	0.502																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1999-2001)Gca>Tca		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							54.0	53.0	54.0					1																	212274331		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212274331G>T	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1999G>T	1.37:g.212274331G>T	ENSP00000355958:p.Ala667Ser					DTL_ENST00000542077.1_Missense_Mutation_p.A625S|DTL_ENST00000475419.1_3'UTR	p.A667S	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	2313	+			667					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.1999G>T	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225062	0.58668	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71698	-0.52;-0.59	5.95	5.95	0.96441	.	0.146164	0.64402	D	0.000008	T	0.60143	0.2246	N	0.19112	0.55	0.44275	D	0.997132	B;B;B	0.22983	0.063;0.078;0.038	B;B;B	0.22601	0.04;0.028;0.018	T	0.52682	-0.8543	10	0.26408	T	0.33	-19.0505	20.3931	0.98965	0.0:0.0:1.0:0.0	.	625;667;625	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	S	667;625;346	ENSP00000355958:A667S;ENSP00000443870:A625S	ENSP00000355958:A667S	A	+	1	0	DTL	210340954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.737000	0.62066	2.824000	0.97209	0.655000	0.94253	GCA		0.502	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		18	39	1	0	1.01871e-10	1	1.21968e-10	18	39				
C10orf113	387638	broad.mit.edu	37	10	21414891	21414891	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:21414891T>A	ENST00000534331.1	-	2	379	c.329A>T	c.(328-330)gAt>gTt	p.D110V	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.D100V|C10orf113_ENST00000529198.1_3'UTR	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	110			D -> H (in dbSNP:rs625223). {ECO:0000269|PubMed:15489334}.							endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GTTGCCTGGATCTGGTTCAGG	0.542																																						ENST00000534331.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						c.(328-330)gAt>gTt		chromosome 10 open reading frame 113							68.0	69.0	69.0					10																	21414891		2203	4300	6503	SO:0001583	missense	387638							g.chr10:21414891T>A		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.329A>T	10.37:g.21414891T>A	ENSP00000433646:p.Asp110Val					C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Missense_Mutation_p.D100V|NEBL_ENST00000417816.2_Intron	p.D110V	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN			2	379	-			110		D -> H (in dbSNP:rs625223).			B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	c.329A>T	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908823	0.33721	.	.	ENSG00000204683	ENST00000534331;ENST00000377118	T;T	0.40756	1.02;1.02	4.51	2.18	0.27775	.	.	.	.	.	T	0.35595	0.0937	N	0.08118	0	0.33978	D	0.64766	D	0.69078	0.997	P	0.62184	0.899	T	0.49244	-0.8960	9	0.87932	D	0	-0.1856	5.8784	0.18842	0.0:0.2134:0.0:0.7866	.	110	Q5VZT2	CJ113_HUMAN	V	110;100	ENSP00000433646:D110V;ENSP00000366322:D100V	ENSP00000366322:D100V	D	-	2	0	C10orf113	21454897	0.972000	0.33761	0.863000	0.33907	0.992000	0.81027	0.117000	0.15583	0.354000	0.24105	0.377000	0.23210	GAT		0.542	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		56	48	0	0	0	1	0	56	48				
KCNH6	81033	broad.mit.edu	37	17	61613155	61613155	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:61613155G>A	ENST00000583023.1	+	6	1238	c.1227G>A	c.(1225-1227)gcG>gcA	p.A409A	KCNH6_ENST00000580652.1_Silent_p.A409A|KCNH6_ENST00000314672.5_Silent_p.A409A|KCNH6_ENST00000456941.2_Silent_p.A409A|KCNH6_ENST00000581784.1_Silent_p.A409A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	409					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A409A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCACCTTCGCGCTCATAGCGC	0.632																																						ENST00000583023.1																			1	Substitution - coding silent(1)	p.A409A(1)	kidney(1)	breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1225-1227)gcG>gcA		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						94.0	83.0	87.0					17																	61613155		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613155G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1227G>A	17.37:g.61613155G>A						KCNH6_ENST00000580652.1_Silent_p.A409A|KCNH6_ENST00000581784.1_Silent_p.A409A|KCNH6_ENST00000456941.2_Silent_p.A409A|KCNH6_ENST00000314672.5_Silent_p.A409A	p.A409A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1238	+			409					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1227G>A	CCDS11638.1																																																																																				0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		27	118	0	0	0	1	0	27	118				
PTGDS	5730	broad.mit.edu	37	9	139874648	139874648	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:139874648C>A	ENST00000371625.3	+	5	536	c.462C>A	c.(460-462)acC>acA	p.T154T	LCNL1_ENST00000408973.2_5'Flank|PTGDS_ENST00000224167.2_Silent_p.T188T	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	154					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAACCCAGACCCCCAGGGCTG	0.642																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(562-564)acC>acA		prostaglandin D2 synthase 21kDa (brain)							50.0	51.0	50.0					9																	139874648		2203	4300	6503	SO:0001819	synonymous_variant	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139874648C>A	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.462C>A	9.37:g.139874648C>A						PTGDS_ENST00000371625.3_Silent_p.T154T	p.T188T			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	5	639	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	154					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Silent	SNP	ENST00000371625.3	37	c.564C>A	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	8.838	0.941452	0.18281	.	.	ENSG00000107317	ENST00000446677	.	.	.	4.76	1.29	0.21616	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.22103	-1.0226	4	.	.	.	-0.0262	4.2826	0.10839	0.1844:0.5798:0.0:0.2357	.	.	.	.	T	177	.	.	P	+	1	0	PTGDS	138994469	0.000000	0.05858	0.023000	0.16930	0.425000	0.31504	-0.086000	0.11233	0.425000	0.26087	-0.232000	0.12228	CCC		0.642	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		15	9	1	0	2.61681e-11	1	3.19094e-11	15	9				
SLC8B1	80024	broad.mit.edu	37	12	113759145	113759145	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:113759145C>T	ENST00000552014.1	-	4	680	c.165G>A	c.(163-165)aaG>aaA	p.K55K	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Silent_p.K55K|SLC8B1_ENST00000546737.1_Silent_p.K55K			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	55					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										GGCCACACACCTTGCGGCACT	0.557																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(163-165)aaG>aaA									161.0	151.0	154.0					12																	113759145		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113759145C>T	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.165G>A	12.37:g.113759145C>T						SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.K55K|SLC24A6_ENST00000546737.1_Silent_p.K55K	p.K55K			Q6J4K2	NCKX6_HUMAN			4	680	-			55					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.165G>A	CCDS31909.1																																																																																				0.557	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		56	134	0	0	0	1	0	56	134				
NVL	4931	broad.mit.edu	37	1	224463094	224463094	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:224463094C>A	ENST00000281701.6	-	17	2288	c.2029G>T	c.(2029-2031)Gtg>Ttg	p.V677L	NVL_ENST00000391875.2_Missense_Mutation_p.V571L|NVL_ENST00000361463.3_Missense_Mutation_p.V571L|NVL_ENST00000482491.1_Missense_Mutation_p.V401L|NVL_ENST00000340871.4_Missense_Mutation_p.V488L|NVL_ENST00000469075.1_Missense_Mutation_p.V586L	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	677						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)		AAGAATATCACACAGGGTGCT	0.398																																						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.(2029-2031)Gtg>Ttg		nuclear VCP-like							134.0	126.0	128.0					1																	224463094		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224463094C>A	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.2029G>T	1.37:g.224463094C>A	ENSP00000281701:p.Val677Leu					NVL_ENST00000469075.1_Missense_Mutation_p.V586L|NVL_ENST00000340871.4_Missense_Mutation_p.V488L|NVL_ENST00000391875.2_Missense_Mutation_p.V571L|NVL_ENST00000361463.3_Missense_Mutation_p.V571L|NVL_ENST00000482491.1_Missense_Mutation_p.V401L	p.V677L	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	17	2288	-			677					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.2029G>T	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.624066|5.624066	0.96660|0.96660	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463	D|D;D;D;D;D;D	0.95001|0.95001	-3.58|-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.67|5.67	5.67|5.67	0.87782|0.87782	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94889|0.94889	0.8348|0.8348	N|N	0.16233|0.16233	0.39|0.39	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.969;0.996;0.999	.|P;D;D	.|0.91635	.|0.791;0.947;0.999	D|D	0.96004|0.96004	0.8996|0.8996	7|10	0.87932|0.87932	D|D	0|0	-15.5876|-15.5876	19.3813|19.3813	0.94536|0.94536	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|488;586;677	.|B4DMC4;B4DP98;O15381	.|.;.;NVL_HUMAN	F|L	559|677;571;586;401;488;571	ENSP00000419420:C559F|ENSP00000281701:V677L;ENSP00000375747:V571L;ENSP00000417826:V586L;ENSP00000417213:V401L;ENSP00000341362:V488L;ENSP00000354779:V571L	ENSP00000419420:C559F|ENSP00000281701:V677L	C|V	-|-	2|1	0|0	NVL|NVL	222529717|222529717	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.385000|7.385000	0.79763|0.79763	2.665000|2.665000	0.90641|0.90641	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.398	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		37	66	1	0	4.62619e-21	1	6.53109e-21	37	66				
CCDC70	83446	broad.mit.edu	37	13	52439979	52439979	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr13:52439979C>A	ENST00000242819.4	+	2	761	c.465C>A	c.(463-465)gcC>gcA	p.A155A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	155						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AGGACAAGGCCCTGTGGGAGG	0.532																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(463-465)gcC>gcA		coiled-coil domain containing 70							113.0	118.0	117.0					13																	52439979		2203	4300	6503	SO:0001819	synonymous_variant	83446					extracellular region|plasma membrane		g.chr13:52439979C>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.465C>A	13.37:g.52439979C>A							p.A155A	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	761	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	155					Q8N7A8|Q9H097	Silent	SNP	ENST00000242819.4	37	c.465C>A	CCDS9431.1																																																																																				0.532	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		53	36	1	0	5.22555e-25	1	7.75026e-25	53	36				
SPATA31E1	286234	broad.mit.edu	37	9	90499929	90499929	+	Missense_Mutation	SNP	C	C	A	rs577973609		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:90499929C>A	ENST00000325643.5	+	4	593	c.527C>A	c.(526-528)cCg>cAg	p.P176Q		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	176	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCACCAGCCGCATGGGAAA	0.642																																						ENST00000325643.5																			0											c.(526-528)cCg>cAg		SPATA31 subfamily E, member 1							65.0	68.0	67.0					9																	90499929		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90499929C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.527C>A	9.37:g.90499929C>A	ENSP00000322640:p.Pro176Gln						p.P176Q	NM_178828.4	NP_849150.3					4	593	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.527C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.257831	0.22965	.	.	ENSG00000177992	ENST00000325643	T	0.04454	3.62	2.35	-1.17	0.09648	.	0.943104	0.08694	N	0.907424	T	0.12263	0.0298	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.19943	-1.0290	10	0.48119	T	0.1	.	3.8908	0.09117	0.2082:0.5116:0.0:0.2803	.	176	Q6ZUB1	CI079_HUMAN	Q	176	ENSP00000322640:P176Q	ENSP00000322640:P176Q	P	+	2	0	C9orf79	89689749	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.704000	0.05058	-0.627000	0.05589	-1.338000	0.01255	CCG		0.642	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		31	23	1	0	2.85442e-18	1	3.88436e-18	31	23				
PPP2R3B	28227	broad.mit.edu	37	X	299616	299616	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:299616T>C	ENST00000390665.3	-	11	1385	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	456					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTCAGGTCCTGCAGCGTGAT	0.622																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(1366-1368)cAg>cGg		protein phosphatase 2, regulatory subunit B'', beta							176.0	171.0	173.0					X																	299616		2200	4289	6489	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:299616T>C	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1367A>G	X.37:g.299616T>C	ENSP00000375080:p.Gln456Arg						p.Q456R	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			11	1385	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	456					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.1367A>G	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.934473	0.00053	.	.	ENSG00000167393	ENST00000390665	T	0.09630	2.96	2.04	-1.09	0.09904	EF-hand-like domain (1);	0.467007	0.21940	N	0.066894	T	0.01695	0.0054	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	10	0.02654	T	1	.	6.3308	0.21269	0.0:0.3574:0.0:0.6426	.	456	Q9Y5P8	P2R3B_HUMAN	R	456	ENSP00000375080:Q456R	ENSP00000375080:Q456R	Q	-	2	0	PPP2R3B	219616	0.047000	0.20315	0.010000	0.14722	0.037000	0.13140	0.271000	0.18626	-0.225000	0.09913	-0.865000	0.03005	CAG		0.622	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		29	58	0	0	0	1	0	29	58				
MAGEC1	9947	broad.mit.edu	37	X	140993225	140993225	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:140993225C>A	ENST00000285879.4	+	4	321	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	12										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGGATGCCGAGTCTTCTC	0.547										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(34-36)cCg>cAg		melanoma antigen family C, 1							62.0	59.0	60.0					X																	140993225		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140993225C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.35C>A	X.37:g.140993225C>A	ENSP00000285879:p.Pro12Gln	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_5'UTR	p.P12Q	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	321	+	Acute lymphoblastic leukemia(192;6.56e-05)		12					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.35C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	4.845	0.157040	0.09236	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.12255	3.93;2.7	0.458	0.458	0.16670	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	0.999999	P	0.46578	0.88	B	0.36134	0.218	T	0.31586	-0.9938	8	0.87932	D	0	.	.	.	.	.	12	O60732	MAGC1_HUMAN	Q	12;12;11	ENSP00000285879:P12Q;ENSP00000359542:P12Q	ENSP00000285879:P12Q	P	+	2	0	MAGEC1	140820891	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.234000	0.02931	0.447000	0.26695	0.179000	0.17066	CCG		0.547	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		33	62	1	0	1.99505e-19	1	2.75036e-19	33	62				
SYNGR4	23546	broad.mit.edu	37	19	48879451	48879451	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:48879451C>A	ENST00000344846.2	+	5	831	c.581C>A	c.(580-582)tCt>tAt	p.S194Y	SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	194						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCCTTGCCCTCTGCCAACAGC	0.617																																						ENST00000344846.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(580-582)tCt>tAt		synaptogyrin 4							165.0	128.0	140.0					19																	48879451		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48879451C>A	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.581C>A	19.37:g.48879451C>A	ENSP00000344041:p.Ser194Tyr					SYNGR4_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_3'UTR	p.S194Y	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	5	831	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	194					Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.581C>A	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	C	6.062	0.379761	0.11466	.	.	ENSG00000105467	ENST00000344846	T	0.47177	0.85	4.45	3.27	0.37495	.	0.541389	0.20893	N	0.083781	T	0.41328	0.1154	L	0.29908	0.895	0.09310	N	1	P	0.44578	0.838	P	0.47470	0.548	T	0.19910	-1.0291	10	0.46703	T	0.11	-25.8006	10.1845	0.42988	0.0:0.8941:0.0:0.1059	.	194	O95473	SNG4_HUMAN	Y	194	ENSP00000344041:S194Y	ENSP00000344041:S194Y	S	+	2	0	SYNGR4	53571263	0.000000	0.05858	0.021000	0.16686	0.004000	0.04260	0.198000	0.17217	1.311000	0.45024	0.555000	0.69702	TCT		0.617	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			34	62	1	0	1.56442e-22	1	2.25072e-22	34	62				
FER1L6	654463	broad.mit.edu	37	8	125115551	125115551	+	Splice_Site	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:125115551G>C	ENST00000522917.1	+	39	5495		c.e39+1		FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAACTCACAGTAAGTGACAG	0.443																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.e39+1		fer-1-like 6 (C. elegans)							89.0	88.0	88.0					8																	125115551		1926	4146	6072	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:125115551G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5289+1G>C	8.37:g.125115551G>C						FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site		NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		39	5495	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)								Splice_Site	SNP	ENST00000522917.1	37		CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847554	0.71603	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9313	0.97120	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125184732	1.000000	0.71417	0.986000	0.45419	0.620000	0.37586	9.476000	0.97823	2.778000	0.95560	0.655000	0.94253	.		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Intron	27	74	0	0	0	1	0	27	74				
SLC6A10P	386757	broad.mit.edu	37	16	32890617	32890617	+	RNA	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:32890617G>T	ENST00000330048.5	-	0	3181					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GTACACGTTGGTGTTTTTGTA	0.617																																						ENST00000330048.5																			0																																																			386757							g.chr16:32890617G>T	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890617G>T								NR_003083.2						0	3181	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			8	24	1	0	0.000274275	1	0.000287907	8	24				
ANKRD11	29123	broad.mit.edu	37	16	89347118	89347118	+	Silent	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:89347118G>C	ENST00000301030.4	-	9	6292	c.5832C>G	c.(5830-5832)acC>acG	p.T1944T	ANKRD11_ENST00000378330.2_Silent_p.T1944T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1944	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGCTCCTCGGTGATGACGG	0.692																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5830-5832)acC>acG		ankyrin repeat domain 11							26.0	30.0	29.0					16																	89347118		2162	4214	6376	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89347118G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5832C>G	16.37:g.89347118G>C						ANKRD11_ENST00000378330.2_Silent_p.T1944T	p.T1944T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6292	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1944			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.5832C>G	CCDS32513.1																																																																																				0.692	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		55	24	0	0	0	1	0	55	24				
NUDT10	170685	broad.mit.edu	37	X	51075942	51075942	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:51075942C>A	ENST00000376006.3	+	2	345	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	NUDT10_ENST00000356450.2_Missense_Mutation_p.P42Q	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					AGCCGGTACCCGGACCGCTGG	0.701																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(124-126)cCg>cAg		nudix (nucleoside diphosphate linked moiety X)-type motif 10							18.0	21.0	20.0					X																	51075942		2200	4292	6492	SO:0001583	missense	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51075942C>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.125C>A	X.37:g.51075942C>A	ENSP00000365174:p.Pro42Gln					NUDT10_ENST00000356450.2_Missense_Mutation_p.P42Q	p.P42Q	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	345	+	Ovarian(276;0.236)		42			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000376006.3	37	c.125C>A	CCDS35278.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670586	0.88348	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.54675	0.56;0.56	3.14	3.14	0.36123	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.87827	2.91	0.39993	D	0.975065	D	0.76494	0.999	D	0.74674	0.984	T	0.82396	-0.0478	9	0.66056	D	0.02	-22.245	11.3917	0.49817	0.0:1.0:0.0:0.0	.	42	Q8NFP7	NUD10_HUMAN	Q	42	ENSP00000365174:P42Q;ENSP00000348831:P42Q	ENSP00000348831:P42Q	P	+	2	0	NUDT10	51092682	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	5.174000	0.65015	1.602000	0.50124	0.429000	0.28392	CCG		0.701	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		6	16	1	0	0.248553	1	0.25045	6	16				
ZCCHC5	203430	broad.mit.edu	37	X	77912561	77912561	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:77912561G>T	ENST00000321110.1	-	2	1652	c.1357C>A	c.(1357-1359)Cat>Aat	p.H453N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	453							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTGGCAAAATGACCAGGATAA	0.557																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1357-1359)Cat>Aat		zinc finger, CCHC domain containing 5							91.0	69.0	76.0					X																	77912561		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912561G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1357C>A	X.37:g.77912561G>T	ENSP00000316794:p.His453Asn						p.H453N	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1652	-			453					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1357C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.125881	0.37533	.	.	ENSG00000179300	ENST00000321110	D	0.97791	-4.54	3.2	2.34	0.29019	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	.	.	.	.	D	0.97864	0.9298	M	0.71871	2.18	0.23138	N	0.998238	D	0.89917	1.0	D	0.70487	0.969	D	0.92519	0.6023	9	0.87932	D	0	.	5.4046	0.16314	0.1583:0.0:0.8417:0.0	.	453	Q8N8U3	ZCHC5_HUMAN	N	453	ENSP00000316794:H453N	ENSP00000316794:H453N	H	-	1	0	ZCCHC5	77799217	1.000000	0.71417	0.983000	0.44433	0.682000	0.39822	2.366000	0.44204	0.730000	0.32425	0.513000	0.50165	CAT		0.557	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		16	43	1	0	5.03518e-11	1	6.05598e-11	16	43				
PDE11A	50940	broad.mit.edu	37	2	178681604	178681604	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:178681604C>T	ENST00000286063.6	-	9	2006	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	PDE11A_ENST00000449286.2_Missense_Mutation_p.M205I|PDE11A_ENST00000358450.4_Missense_Mutation_p.M313I|PDE11A_ENST00000389683.3_Missense_Mutation_p.M119I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.M205I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	563					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTTGATCATACATAATTGTGT	0.393									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1687-1689)atG>atA		phosphodiesterase 11A							138.0	127.0	131.0					2																	178681604		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178681604C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1689G>A	2.37:g.178681604C>T	ENSP00000286063:p.Met563Ile					PDE11A_ENST00000449286.2_Missense_Mutation_p.M205I|PDE11A_ENST00000409504.1_Missense_Mutation_p.M205I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.M313I|PDE11A_ENST00000389683.3_Missense_Mutation_p.M119I	p.M563I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		9	2006	-			563					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1689G>A	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246076	0.80024	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.8	5.8	0.92144	GAF (1);	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	M	0.62016	1.91	0.80722	D	1	D;P	0.69078	0.997;0.853	D;B	0.78314	0.991;0.288	T	0.80703	-0.1264	10	0.59425	D	0.04	.	18.8421	0.92188	0.0:1.0:0.0:0.0	.	313;563	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	I	563;313;205;119;205	ENSP00000286063:M563I;ENSP00000351232:M313I;ENSP00000386539:M205I;ENSP00000374333:M119I;ENSP00000390599:M205I	ENSP00000286063:M563I	M	-	3	0	PDE11A	178389850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.468000	0.80943	2.744000	0.94065	0.655000	0.94253	ATG		0.393	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			29	67	0	0	0	1	0	29	67				
GHR	2690	broad.mit.edu	37	5	42695191	42695191	+	Splice_Site	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:42695191G>T	ENST00000230882.4	+	5	629	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Splice_Site_p.V125L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	147					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGATGAAATAGGTAAATCACA	0.353																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.e5+1		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						73.0	71.0	71.0					5																	42695191		2203	4300	6503	SO:0001630	splice_region_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42695191G>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.439+1G>T	5.37:g.42695191G>T						GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Splice_Site_p.V125_splice	p.V147_splice	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			5	629	+		Myeloproliferative disorder(839;0.00878)	147					Q9HCX2	Splice_Site	SNP	ENST00000230882.4	37	c.439_splice	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026790	0.93518	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.97811	-4.55;-4.55	5.14	5.14	0.70334	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	M	0.89095	3.005	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.99764	1.1022	10	0.87932	D	0	-10.7695	18.965	0.92692	0.0:0.0:1.0:0.0	.	147	P10912	GHR_HUMAN	L	147;125;147	ENSP00000230882:V147L;ENSP00000350335:V125L	ENSP00000230882:V147L	V	+	1	0	GHR	42730948	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.945000	0.87732	2.537000	0.85549	0.585000	0.79938	GTG		0.353	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163	Missense_Mutation	15	40	1	0	3.45872e-05	1	3.71935e-05	15	40				
KLHL34	257240	broad.mit.edu	37	X	21674328	21674328	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:21674328C>A	ENST00000379499.2	-	1	2120	c.1579G>T	c.(1579-1581)Gct>Tct	p.A527S		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	527						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCAAACACAGCGCCGCGCAGC	0.647																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1579-1581)Gct>Tct		kelch-like family member 34							33.0	20.0	25.0					X																	21674328		2198	4288	6486	SO:0001583	missense	257240							g.chrX:21674328C>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1579G>T	X.37:g.21674328C>A	ENSP00000368813:p.Ala527Ser						p.A527S	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	2120	-			527						Missense_Mutation	SNP	ENST00000379499.2	37	c.1579G>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	2.966	-0.213624	0.06140	.	.	ENSG00000185915	ENST00000379499	T	0.65732	-0.17	5.3	2.47	0.30058	Kelch-type beta propeller (1);	0.711467	0.13693	N	0.369371	T	0.38374	0.1038	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.14578	0.011	T	0.19095	-1.0316	10	0.22706	T	0.39	.	4.5717	0.12214	0.3445:0.4612:0.116:0.0783	.	527	Q8N239	KLH34_HUMAN	S	527	ENSP00000368813:A527S	ENSP00000368813:A527S	A	-	1	0	KLHL34	21584249	0.001000	0.12720	0.054000	0.19295	0.498000	0.33706	0.215000	0.17562	0.182000	0.20032	0.600000	0.82982	GCT		0.647	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		10	6	1	0	1.58986e-06	1	1.74885e-06	10	6				
SPOP	8405	broad.mit.edu	37	17	47684716	47684716	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:47684716C>T	ENST00000393328.2	-	9	1098	c.733G>A	c.(733-735)Gat>Aat	p.D245N	SPOP_ENST00000393331.3_Missense_Mutation_p.D245N|SPOP_ENST00000347630.2_Missense_Mutation_p.D245N|SPOP_ENST00000504102.1_Missense_Mutation_p.D245N|SPOP_ENST00000503676.1_Missense_Mutation_p.D245N	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	245	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGCTCCACATCATTGATTTCA	0.383										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(733-735)Gat>Aat		speckle-type POZ protein							91.0	85.0	87.0					17																	47684716		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47684716C>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.733G>A	17.37:g.47684716C>T	ENSP00000377001:p.Asp245Asn	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.D245N|SPOP_ENST00000393328.2_Missense_Mutation_p.D245N|SPOP_ENST00000347630.2_Missense_Mutation_p.D245N|SPOP_ENST00000504102.1_Missense_Mutation_p.D245N	p.D245N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			10	1203	-			245			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.733G>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571664	0.96553	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.43	5.43	0.79202	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88353	0.2982	10	0.54805	T	0.06	-24.3468	19.0206	0.92912	0.0:1.0:0.0:0.0	.	245	O43791	SPOP_HUMAN	N	245;245;245;245;129;245;198;245	ENSP00000377001:D245N;ENSP00000377004:D245N;ENSP00000240327:D245N;ENSP00000425905:D245N;ENSP00000420908:D245N;ENSP00000426986:D245N	ENSP00000240327:D245N	D	-	1	0	SPOP	45039715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	GAT		0.383	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		26	62	0	0	0	1	0	26	62				
TG	7038	broad.mit.edu	37	8	134025991	134025991	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:134025991C>A	ENST00000220616.4	+	37	6584	c.6544C>A	c.(6544-6546)Cac>Aac	p.H2182N	TG_ENST00000542445.1_Missense_Mutation_p.H552N|TG_ENST00000377869.1_Missense_Mutation_p.H2125N|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.H315N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2182					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGGCCACCCACATCTACCG	0.522																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6544-6546)Cac>Aac		thyroglobulin							70.0	53.0	58.0					8																	134025991		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134025991C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6544C>A	8.37:g.134025991C>A	ENSP00000220616:p.His2182Asn					TG_ENST00000519543.1_Missense_Mutation_p.H315N|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.H552N|TG_ENST00000377869.1_Missense_Mutation_p.H2125N	p.H2182N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	37	6584	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2182					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6544C>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.283699|2.283699	0.40394|0.40394	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.66460|.	0.0;-0.0;-0.21;-0.21|.	5.07|5.07	-4.76|-4.76	0.03229|0.03229	.|.	0.561314|.	0.17359|.	N|.	0.177093|.	T|T	0.34077|0.34077	0.0885|0.0885	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999991|0.999991	P;P;P|.	0.44006|.	0.716;0.661;0.824|.	B;B;B|.	0.37267|.	0.146;0.245;0.191|.	T|T	0.43114|0.43114	-0.9411|-0.9411	10|5	0.66056|.	D|.	0.02|.	.|.	8.129|8.129	0.31016|0.31016	0.0:0.1944:0.1326:0.673|0.0:0.1944:0.1326:0.673	.|.	315;552;2182|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	N|Q	2125;988;2182;552;315|637	ENSP00000367100:H2125N;ENSP00000220616:H2182N;ENSP00000441693:H552N;ENSP00000430430:H315N|.	ENSP00000220616:H2182N|.	H|P	+|+	1|2	0|0	TG|TG	134095173|134095173	0.000000|0.000000	0.05858|0.05858	0.864000|0.864000	0.33941|0.33941	0.805000|0.805000	0.45488|0.45488	-0.745000|-0.745000	0.04834|0.04834	-0.555000|-0.555000	0.06142|0.06142	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		6	27	1	0	8.12818e-05	1	8.61783e-05	6	27				
FREM2	341640	broad.mit.edu	37	13	39425150	39425150	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr13:39425150G>C	ENST00000280481.7	+	10	6863	c.6647G>C	c.(6646-6648)cGc>cCc	p.R2216P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2216	Calx-beta 4.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGAGCTCCGCCTGGTACTC	0.488																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6646-6648)cGc>cCc		FRAS1 related extracellular matrix protein 2							103.0	95.0	98.0					13																	39425150		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425150G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6647G>C	13.37:g.39425150G>C	ENSP00000280481:p.Arg2216Pro						p.R2216P	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	10	6863	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2216			Calx-beta 4.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6647G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757342	0.69648	.	.	ENSG00000150893	ENST00000280481	T	0.29655	1.56	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.69939	-0.5009	10	0.72032	D	0.01	.	19.0387	0.92989	0.0:0.0:1.0:0.0	.	2216;2216	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	P	2216	ENSP00000280481:R2216P	ENSP00000280481:R2216P	R	+	2	0	FREM2	38323150	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.457000	0.97630	2.749000	0.94314	0.650000	0.86243	CGC		0.488	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		29	42	0	0	0	1	0	29	42				
CACNA1B	774	broad.mit.edu	37	9	140953170	140953170	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:140953170G>A	ENST00000371372.1	+	29	4603	c.4458G>A	c.(4456-4458)gtG>gtA	p.V1486V	CACNA1B_ENST00000371363.1_Silent_p.V1486V|CACNA1B_ENST00000277549.5_Silent_p.V682V|CACNA1B_ENST00000277551.2_Silent_p.V1486V|CACNA1B_ENST00000371355.4_Silent_p.V1487V|CACNA1B_ENST00000371357.1_Silent_p.V1487V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1486					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAACACTGTGGTGCTGATGA	0.557																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2044-2046)gtG>gtA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						54.0	50.0	51.0					9																	140953170		2048	4206	6254	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140953170G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4458G>A	9.37:g.140953170G>A						CACNA1B_ENST00000371357.1_Silent_p.V1487V|CACNA1B_ENST00000277551.2_Silent_p.V1486V|CACNA1B_ENST00000371363.1_Silent_p.V1486V|CACNA1B_ENST00000371372.1_Silent_p.V1486V|CACNA1B_ENST00000371355.4_Silent_p.V1487V	p.V682V			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	30	4615	+	all_cancers(76;0.166)		1486					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.2046G>A	CCDS59522.1																																																																																				0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		7	11	0	0	0	1	0	7	11				
VSTM2A	222008	broad.mit.edu	37	7	54614664	54614664	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:54614664C>A	ENST00000407838.3	+	3	677	c.271C>A	c.(271-273)Ccg>Acg	p.P91T	VSTM2A_ENST00000302287.3_Missense_Mutation_p.P91T|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P90T|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P91T|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P91T	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	91	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CGACAGAGACCCGGACAGCGA	0.726																																						ENST00000302287.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(271-273)Ccg>Acg		V-set and transmembrane domain containing 2A							38.0	47.0	44.0					7																	54614664		2202	4298	6500	SO:0001583	missense	222008					extracellular region		g.chr7:54614664C>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.271C>A	7.37:g.54614664C>A	ENSP00000384967:p.Pro91Thr					VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P91T|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P90T|VSTM2A_ENST00000407838.3_Missense_Mutation_p.P91T|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P91T	p.P91T			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		3	677	+			91			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.271C>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	c	8.738	0.918163	0.17982	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.39	4.39	0.52855	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.209889	0.42682	D	0.000666	T	0.58004	0.2092	N	0.20881	0.62	0.41310	D	0.987109	B;B;D	0.53312	0.324;0.277;0.959	B;B;P	0.55749	0.38;0.262;0.783	T	0.52946	-0.8507	10	0.18710	T	0.47	-18.3024	12.7902	0.57528	0.0:1.0:0.0:0.0	.	91;91;91	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	T	91;91;91;90;91	ENSP00000303108:P91T;ENSP00000384967:P91T;ENSP00000384701:P91T;ENSP00000385933:P90T;ENSP00000384103:P91T	ENSP00000303108:P91T	P	+	1	0	VSTM2A	54582158	1.000000	0.71417	0.986000	0.45419	0.045000	0.14185	1.638000	0.37165	2.138000	0.66242	0.401000	0.26515	CCG		0.726	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		22	532	1	0	2.48779e-11	1	3.04064e-11	22	532				
ARHGAP31	57514	broad.mit.edu	37	3	119101206	119101206	+	Missense_Mutation	SNP	G	G	T	rs139733647	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:119101206G>T	ENST00000264245.4	+	5	1031	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	167	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAACATGCACGCCCGGAACCT	0.557																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(499-501)Gcc>Tcc		Rho GTPase activating protein 31							81.0	94.0	90.0					3																	119101206		1991	4162	6153	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119101206G>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.499G>T	3.37:g.119101206G>T	ENSP00000264245:p.Ala167Ser						p.A167S	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			5	1031	+			167			Rho-GAP.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.499G>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685927	0.29962	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.18810	2.19;2.19	4.99	2.98	0.34508	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.240159	0.34460	N	0.003956	T	0.17746	0.0426	N	0.20610	0.595	0.42774	D	0.993842	B	0.25609	0.13	B	0.42282	0.382	T	0.11251	-1.0595	10	0.42905	T	0.14	.	6.0162	0.19605	0.1333:0.2035:0.6632:0.0	.	167	Q2M1Z3	RHG31_HUMAN	S	167;167;138	ENSP00000264245:A167S;ENSP00000418429:A138S	ENSP00000264245:A167S	A	+	1	0	ARHGAP31	120583896	0.999000	0.42202	0.997000	0.53966	0.962000	0.63368	3.429000	0.52800	1.280000	0.44463	0.655000	0.94253	GCC		0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			20	98	1	0	2.39187e-15	1	3.11829e-15	20	98				
CNOT1	23019	broad.mit.edu	37	16	58566252	58566252	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:58566252A>G	ENST00000317147.5	-	41	6275	c.5943T>C	c.(5941-5943)cgT>cgC	p.R1981R	CNOT1_ENST00000245138.4_Silent_p.R832R|CNOT1_ENST00000569240.1_Silent_p.R1976R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1981					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)		ATTCACTCTGACGAACATCAT	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.(5941-5943)cgT>cgC		CCR4-NOT transcription complex, subunit 1							110.0	101.0	104.0					16																	58566252		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58566252A>G	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.5943T>C	16.37:g.58566252A>G						CNOT1_ENST00000569240.1_Silent_p.R1976R|CNOT1_ENST00000245138.4_Silent_p.R832R	p.R1981R	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)	41	6275	-			1981					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.5943T>C	CCDS10799.1																																																																																				0.403	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		50	26	0	0	0	1	0	50	26				
FLG	2312	broad.mit.edu	37	1	152278978	152278978	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:152278978C>A	ENST00000368799.1	-	3	8419	c.8384G>T	c.(8383-8385)gGa>gTa	p.G2795V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2795	Ser-rich.				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)			CTGCCTTCCTCCTCTGCTTGA	0.597									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.(8383-8385)gGa>gTa		filaggrin							252.0	345.0	314.0					1																	152278978		2194	4296	6490	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.chr1:152278978C>A	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.8384G>T	1.37:g.152278978C>A	ENSP00000357789:p.Gly2795Val					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2795V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8419	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2795			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8384G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.775	1.173759	0.21704	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01665	4.7	4.2	-1.01	0.10169	.	.	.	.	.	T	0.00906	0.0030	M	0.76574	2.34	0.09310	N	1	P	0.50617	0.937	B	0.39706	0.307	T	0.46484	-0.9188	9	0.48119	T	0.1	.	5.0188	0.14350	0.0:0.3593:0.4185:0.2221	.	2795	P20930	FILA_HUMAN	V	2795;57	ENSP00000357789:G2795V	ENSP00000357786:G57V	G	-	2	0	FLG	150545602	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.941000	0.03925	0.022000	0.15160	-0.683000	0.03753	GGA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		76	423	1	0	2.10578e-59	1	3.34895e-59	76	423				
GAL3ST3	89792	broad.mit.edu	37	11	65810520	65810520	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:65810520G>T	ENST00000312006.4	-	3	1035	c.754C>A	c.(754-756)Cgg>Agg	p.R252R	GAL3ST3_ENST00000527878.1_Silent_p.R252R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	252					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.R252W(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGTAGGCGCCGCAGCAGCACT	0.706																																						ENST00000312006.4																			1	Substitution - Missense(1)	p.R252W(1)	lung(1)	kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(754-756)Cgg>Agg		galactose-3-O-sulfotransferase 3							24.0	25.0	25.0					11																	65810520		2201	4296	6497	SO:0001819	synonymous_variant	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810520G>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.754C>A	11.37:g.65810520G>T						GAL3ST3_ENST00000527878.1_Silent_p.R252R	p.R252R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	1035	-			252					Q14D05	Silent	SNP	ENST00000312006.4	37	c.754C>A	CCDS8128.1																																																																																				0.706	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		34	21	1	0	1.21669e-08	1	1.40265e-08	34	21				
DMD	1756	broad.mit.edu	37	X	31200941	31200941	+	Silent	SNP	G	G	A	rs146543659		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:31200941G>A	ENST00000357033.4	-	68	10094	c.9888C>T	c.(9886-9888)ccC>ccT	p.P3296P	DMD_ENST00000378707.3_Silent_p.P836P|DMD_ENST00000378680.2_Silent_p.P228P|DMD_ENST00000378723.3_Silent_p.P228P|DMD_ENST00000541735.1_Silent_p.P836P|DMD_ENST00000343523.2_Silent_p.P836P|DMD_ENST00000474231.1_Silent_p.P836P|DMD_ENST00000378677.2_Silent_p.P3292P|DMD_ENST00000378702.4_Silent_p.P228P|DMD_ENST00000361471.4_Silent_p.P228P|DMD_ENST00000359836.1_Silent_p.P836P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3296	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTGCAGGACGGGCAGCCACA	0.512																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(9886-9888)ccC>ccT		dystrophin		G	,,,,,,,,,,,,,,,,,	0,3833		0,0,0,1631,571	89.0	73.0	78.0		9864,9888,9519,9876,9519,5865,5856,2508,1701,684,684,684,684,684,2508,2508,2508,2508	-7.3	0.7	X	dbSNP_134	78	4,6724		0,3,1,2425,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004015.2,NM_004016.2,NM_004017.2,NM_004018.2,NM_004019.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	,,,,,,,,,,,,,,,,,	0,3,1,4056,2442	AA,AG,A,GG,G		0.0595,0.0,0.0379	,,,,,,,,,,,,,,,,,	3288/3678,3296/3686,3173/3563,3292/3682,3173/3563,1955/2345,1952/2342,836/1226,567/957,228/618,228/636,228/605,228/623,228/341,836/1116,836/1244,836/1231,836/1134	31200941	4,10557	2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31200941G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9888C>T	X.37:g.31200941G>A						DMD_ENST00000359836.1_Silent_p.P836P|DMD_ENST00000378707.3_Silent_p.P836P|DMD_ENST00000378702.4_Silent_p.P228P|DMD_ENST00000343523.2_Silent_p.P836P|DMD_ENST00000378723.3_Silent_p.P228P|DMD_ENST00000378680.2_Silent_p.P228P|DMD_ENST00000361471.4_Silent_p.P228P|DMD_ENST00000541735.1_Silent_p.P836P|DMD_ENST00000378677.2_Silent_p.P3292P|DMD_ENST00000474231.1_Silent_p.P836P	p.P3296P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			68	10094	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3296			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.9888C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078127	0.20227	0.0	5.95E-4	ENSG00000198947	ENST00000465285	.	.	.	5.41	-7.34	0.01427	.	.	.	.	.	T	0.37433	0.1003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39440	-0.9614	4	.	.	.	.	3.4744	0.07579	0.5292:0.1493:0.1701:0.1514	.	.	.	.	C	1025	.	.	R	-	1	0	DMD	31110862	0.000000	0.05858	0.725000	0.30721	0.996000	0.88848	-5.738000	0.00101	-1.746000	0.01335	-0.192000	0.12808	CGT		0.512	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	59	0	0	0	1	0	17	59				
POLD1	5424	broad.mit.edu	37	19	50912138	50912138	+	Silent	SNP	C	C	T	rs200649908		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:50912138C>T	ENST00000440232.2	+	15	1925	c.1872C>T	c.(1870-1872)ccC>ccT	p.P624P	POLD1_ENST00000599857.1_Silent_p.P624P|POLD1_ENST00000595904.1_Silent_p.P650P	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	624					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCTTCGGCCCGGGACTGCAC	0.617								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0	0.0	5008	,	,		17204	0.001		0.0	False		,,,				2504	0.0					ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1872)ccC>ccT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							124.0	106.0	112.0					19																	50912138		2203	4300	6503	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50912138C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1872C>T	19.37:g.50912138C>T						POLD1_ENST00000599857.1_Silent_p.P624P|POLD1_ENST00000595904.1_Silent_p.P650P	p.P624P	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	15	1925	+		all_neural(266;0.0571)	624					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.1872C>T	CCDS12795.1																																																																																				0.617	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			52	81	0	0	0	1	0	52	81				
NSA2	10412	broad.mit.edu	37	5	74064769	74064769	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:74064769A>C	ENST00000296802.5	+	2	386	c.17A>C	c.(16-18)tAt>tCt	p.Y6S	GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000509430.1_5'Flank|NSA2_ENST00000513356.1_3'UTR|GFM2_ENST00000296805.3_5'Flank	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	6					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CAGAATGAATATATTGAATTA	0.333																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(16-18)tAt>tCt		NSA2 ribosome biogenesis homolog (S. cerevisiae)							31.0	31.0	31.0					5																	74064769		2199	4298	6497	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74064769A>C	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.17A>C	5.37:g.74064769A>C	ENSP00000296802:p.Tyr6Ser					NSA2_ENST00000513356.1_3'UTR	p.Y6S	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			2	386	+			6						Missense_Mutation	SNP	ENST00000296802.5	37	c.17A>C	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719402	0.89205	.	.	ENSG00000164346	ENST00000296802	T	0.29142	1.58	5.74	5.74	0.90152	.	0.107337	0.64402	D	0.000004	T	0.42944	0.1225	M	0.84219	2.685	0.58432	D	0.999999	B	0.20887	0.049	B	0.24974	0.057	T	0.41822	-0.9487	10	0.72032	D	0.01	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	6	O95478	NSA2_HUMAN	S	6	ENSP00000296802:Y6S	ENSP00000296802:Y6S	Y	+	2	0	NSA2	74100525	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.555000	0.90693	2.330000	0.79161	0.529000	0.55759	TAT		0.333	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		6	11	0	0	0	1	0	6	11				
WNK3	65267	broad.mit.edu	37	X	54321016	54321016	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:54321016T>A	ENST00000375159.2	-	7	1662	c.1663A>T	c.(1663-1665)Aaa>Taa	p.K555*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.K555*|WNK3_ENST00000354646.2_Nonsense_Mutation_p.K555*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	555					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGCTGTGGTTTTCTTTGTAGA	0.398																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1663-1665)Aaa>Taa		WNK lysine deficient protein kinase 3							64.0	46.0	52.0					X																	54321016		2203	4299	6502	SO:0001587	stop_gained	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54321016T>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1663A>T	X.37:g.54321016T>A	ENSP00000364301:p.Lys555*					WNK3_ENST00000375159.2_Nonsense_Mutation_p.K555*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.K555*	p.K555*	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			8	2101	-			555					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	c.1663A>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	38	7.014728	0.98002	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.04	3.81	0.43845	.	0.235258	0.29383	N	0.012302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-5.6481	9.1447	0.36925	0.0:0.0:0.2883:0.7117	.	.	.	.	X	555	.	ENSP00000346667:K555X	K	-	1	0	WNK3	54337741	0.992000	0.36948	0.918000	0.36340	0.977000	0.68977	1.623000	0.37008	1.662000	0.50781	0.481000	0.45027	AAA		0.398	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		8	46	0	0	0	1	0	8	46				
RASA1	5921	broad.mit.edu	37	5	86686641	86686641	+	Missense_Mutation	SNP	A	A	G	rs377550978		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:86686641A>G	ENST00000274376.6	+	25	3649	c.3085A>G	c.(3085-3087)Ata>Gta	p.I1029V	RASA1_ENST00000456692.2_Missense_Mutation_p.I852V|RASA1_ENST00000512763.1_Missense_Mutation_p.I862V|RASA1_ENST00000506290.1_Missense_Mutation_p.I863V	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	1029					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCTTCTGGCTATAACAGAACT	0.408																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(2554-2556)Ata>Gta		RAS p21 protein activator (GTPase activating protein) 1		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	90.0	88.0	89.0		2554,3085	4.9	1.0	5		89	0,8600		0,0,4300	no	missense,missense	RASA1	NM_022650.2,NM_002890.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	852/871,1029/1048	86686641	1,13005	2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86686641A>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.3085A>G	5.37:g.86686641A>G	ENSP00000274376:p.Ile1029Val					RASA1_ENST00000506290.1_Missense_Mutation_p.I863V|RASA1_ENST00000512763.1_Missense_Mutation_p.I862V|RASA1_ENST00000274376.6_Missense_Mutation_p.I1029V	p.I852V	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	25	2669	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	1029			Ras-GAP.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2554A>G	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	A	2.829	-0.242992	0.05906	2.27E-4	0.0	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	4.95	4.95	0.65309	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	N	0.11064	0.09	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.09100	-1.0690	10	0.02654	T	1	.	14.6404	0.68720	1.0:0.0:0.0:0.0	.	863;862;863;852;1029	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	V	1029;852;862;863	ENSP00000274376:I1029V;ENSP00000411221:I852V;ENSP00000422008:I862V;ENSP00000420905:I863V	ENSP00000274376:I1029V	I	+	1	0	RASA1	86722397	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.691000	0.91279	1.850000	0.53721	0.374000	0.22700	ATA		0.408	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		21	39	0	0	0	1	0	21	39				
TMEM63C	57156	broad.mit.edu	37	14	77703003	77703003	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:77703003C>A	ENST00000298351.4	+	9	723	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	193					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGCTGTCCTTCTTCTACTTCA	0.557																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(577-579)ttC>ttA		transmembrane protein 63C							122.0	131.0	128.0					14																	77703003		2153	4244	6397	SO:0001583	missense	57156					integral to membrane		g.chr14:77703003C>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.579C>A	14.37:g.77703003C>A	ENSP00000298351:p.Phe193Leu						p.F193L	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	9	723	+			193					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.579C>A	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	c	11.73	1.725639	0.30593	.	.	ENSG00000165548	ENST00000298351	T	0.39997	1.05	4.63	3.72	0.42706	.	0.258301	0.39687	N	0.001287	T	0.32823	0.0842	L	0.38175	1.15	0.26774	N	0.969736	B	0.06786	0.001	B	0.13407	0.009	T	0.15009	-1.0452	10	0.30854	T	0.27	-16.8928	13.6339	0.62210	0.0:0.9198:0.0:0.0802	.	193	Q9P1W3	TM63C_HUMAN	L	193	ENSP00000298351:F193L	ENSP00000298351:F193L	F	+	3	2	TMEM63C	76772756	0.983000	0.35010	0.213000	0.23690	0.938000	0.57974	2.300000	0.43620	2.281000	0.76405	0.550000	0.68814	TTC		0.557	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			36	86	1	0	1.30998e-17	1	1.74664e-17	36	86				
NPAP1	23742	broad.mit.edu	37	15	24922856	24922856	+	Silent	SNP	G	G	A	rs374131032		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:24922856G>A	ENST00000329468.2	+	1	2316	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	614					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGAGGCACCCGGGAAAGACAT	0.478																																						ENST00000329468.2																			0											c.(1840-1842)ccG>ccA		nuclear pore associated protein 1		G		1,4405		0,1,2202	85.0	98.0	94.0		1842	-1.1	0.0	15		94	0,8600		0,0,4300	no	coding-synonymous	C15orf2	NM_018958.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		614/1157	24922856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24922856G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1842G>A	15.37:g.24922856G>A							p.P614P	NM_018958.2	NP_061831.2					1	2316	+									Silent	SNP	ENST00000329468.2	37	c.1842G>A	CCDS10015.1																																																																																				0.478	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		26	53	0	0	0	1	0	26	53				
CRB1	23418	broad.mit.edu	37	1	197390165	197390165	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:197390165T>C	ENST00000367400.3	+	6	1342	c.1207T>C	c.(1207-1209)Tca>Cca	p.S403P	CRB1_ENST00000535699.1_Missense_Mutation_p.S334P|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.S291P|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.S403P|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.S102P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	403	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAATGTTCTTCAAACCCTTG	0.348																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1207-1209)Tca>Cca		crumbs homolog 1 (Drosophila)							141.0	126.0	131.0					1																	197390165		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390165T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1207T>C	1.37:g.197390165T>C	ENSP00000356370:p.Ser403Pro					CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.S291P|CRB1_ENST00000535699.1_Missense_Mutation_p.S334P|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.S403P|CRB1_ENST00000543483.1_Missense_Mutation_p.S102P	p.S403P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1342	+			403			EGF-like 10; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1207T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.564148	0.27915	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.28	5.47	1.95	0.26073	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.80884	0.4709	L	0.28556	0.865	0.19300	N	0.999973	B;B;B;B;B	0.16802	0.013;0.004;0.016;0.004;0.019	B;B;B;B;B	0.25140	0.058;0.011;0.013;0.009;0.056	T	0.67941	-0.5540	9	0.46703	T	0.11	.	4.379	0.11284	0.1703:0.2436:0.0:0.5861	.	403;334;291;52;403	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	P	334;403;403;291;102;52	ENSP00000438786:S334P;ENSP00000438091:S403P;ENSP00000356370:S403P;ENSP00000356369:S291P;ENSP00000439579:S102P	ENSP00000356369:S291P	S	+	1	0	CRB1	195656788	0.000000	0.05858	0.003000	0.11579	0.885000	0.51271	0.358000	0.20216	0.084000	0.17077	0.477000	0.44152	TCA		0.348	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		39	94	0	0	0	1	0	39	94				
EXO1	9156	broad.mit.edu	37	1	242020758	242020758	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:242020758G>T	ENST00000366548.3	+	7	1110	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	EXO1_ENST00000518483.1_Missense_Mutation_p.D173Y|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.D173Y	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	173	I-domain.|Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAGGACTCGGATCTCCTAGC	0.428								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(517-519)Gat>Tat	Editing and processing nucleases	exonuclease 1							104.0	105.0	104.0					1																	242020758		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242020758G>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.517G>T	1.37:g.242020758G>T	ENSP00000355506:p.Asp173Tyr					EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.D173Y|EXO1_ENST00000348581.5_Missense_Mutation_p.D173Y	p.D173Y	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		7	1110	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	173			I-domain.|Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.517G>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026908	0.93518	.	.	ENSG00000174371	ENST00000366548;ENST00000423131;ENST00000348581;ENST00000366547;ENST00000518483;ENST00000437497	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.93	5.93	0.95920	XPG/RAD2 endonuclease (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	H	0.99752	4.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98773	1.0729	10	0.87932	D	0	0.907	19.9299	0.97115	0.0:0.0:1.0:0.0	.	173;173;173	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	Y	173;133;173;133;173;130	ENSP00000355506:D173Y;ENSP00000415531:D133Y;ENSP00000311873:D173Y;ENSP00000430251:D173Y;ENSP00000412041:D130Y	ENSP00000311873:D173Y	D	+	1	0	EXO1	240087381	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.738000	0.98835	2.813000	0.96785	0.650000	0.86243	GAT		0.428	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		33	72	1	0	7.63091e-17	1	1.00728e-16	33	72				
XKR7	343702	broad.mit.edu	37	20	30584698	30584698	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:30584698T>A	ENST00000562532.2	+	3	1352	c.1178T>A	c.(1177-1179)cTg>cAg	p.L393Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	393						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCGTCCTGCTGGAGAACGCC	0.592																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1177-1179)cTg>cAg		XK, Kell blood group complex subunit-related family, member 7							58.0	53.0	55.0					20																	30584698		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584698T>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1178T>A	20.37:g.30584698T>A	ENSP00000477059:p.Leu393Gln						p.L393Q	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1352	+			393					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1178T>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334420	0.60853	.	.	ENSG00000101321	ENST00000217299	T	0.69175	-0.38	5.02	5.02	0.67125	.	0.574469	0.17070	N	0.188216	T	0.74635	0.3742	M	0.80982	2.52	0.35217	D	0.775641	D	0.55800	0.973	P	0.54815	0.761	T	0.81506	-0.0902	10	0.56958	D	0.05	.	6.047	0.19766	0.0:0.1892:0.0:0.8108	.	393	Q5GH72	XKR7_HUMAN	Q	393	ENSP00000217299:L393Q	ENSP00000217299:L393Q	L	+	2	0	XKR7	30048359	0.013000	0.17824	1.000000	0.80357	0.860000	0.49131	2.056000	0.41355	1.873000	0.54277	0.459000	0.35465	CTG		0.592	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		15	32	0	0	0	1	0	15	32				
WEE2	494551	broad.mit.edu	37	7	141423765	141423765	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:141423765T>C	ENST00000397541.2	+	7	1458	c.1052T>C	c.(1051-1053)aTg>aCg	p.M351T	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			M -> V (in Ref. 2; AK131218). {ECO:0000305}.	female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGTCACAAGATGCAAAGTGAA	0.328																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1051-1053)aTg>aCg		WEE1 homolog 2 (S. pombe)							97.0	89.0	91.0					7																	141423765		1831	4077	5908	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141423765T>C	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1052T>C	7.37:g.141423765T>C	ENSP00000380675:p.Met351Thr					WEE2-AS1_ENST00000488785.1_RNA	p.M351T	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			7	1458	+	Melanoma(164;0.0171)		351	M -> V (in Ref. 2; AK131218).		Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.1052T>C	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135324	0.37728	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.64085	1.23;-0.08	5.15	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.37156	0.0993	N	0.12961	0.28	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19549	-1.0302	9	0.14252	T	0.57	.	5.2152	0.15338	0.1315:0.1501:0.0:0.7185	.	351	P0C1S8	WEE2_HUMAN	T	351;126	ENSP00000380675:M351T;ENSP00000420388:M126T	ENSP00000380675:M351T	M	+	2	0	WEE2	141070234	0.000000	0.05858	0.535000	0.28026	0.965000	0.64279	-0.033000	0.12246	0.344000	0.23847	0.533000	0.62120	ATG		0.328	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		10	26	0	0	0	1	0	10	26				
SP5	389058	broad.mit.edu	37	2	171573656	171573656	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:171573656G>T	ENST00000375281.3	+	2	1101	c.939G>T	c.(937-939)ctG>ctT	p.L313L	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	313					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CGTCGCACCTGAAGGCGCACC	0.706																																						ENST00000375281.3																			0				NS(1)|endometrium(2)|lung(1)|prostate(1)	5						c.(937-939)ctG>ctT		Sp5 transcription factor							18.0	15.0	16.0					2																	171573656		2190	4294	6484	SO:0001819	synonymous_variant	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573656G>T		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.939G>T	2.37:g.171573656G>T							p.L313L	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN			2	1101	+			313						Silent	SNP	ENST00000375281.3	37	c.939G>T	CCDS33322.1																																																																																				0.706	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		4	10	1	0	1	1	1	4	10				
SEMA3D	223117	broad.mit.edu	37	7	84628850	84628850	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:84628850C>A	ENST00000284136.6	-	17	2283	c.2240G>T	c.(2239-2241)gGc>gTc	p.G747V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	747	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCACTTTGGGCCCCCCTTGTT	0.498																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2239-2241)gGc>gTc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							167.0	140.0	149.0					7																	84628850		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628850C>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2240G>T	7.37:g.84628850C>A	ENSP00000284136:p.Gly747Val					SEMA3D_ENST00000484038.1_5'UTR	p.G747V	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2283	-			747			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2240G>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370977	0.42003	.	.	ENSG00000153993	ENST00000284136	T	0.30448	1.53	5.93	4.08	0.47627	.	0.642792	0.17528	N	0.170972	T	0.28599	0.0708	L	0.40543	1.245	0.80722	D	1	B	0.21606	0.058	B	0.14578	0.011	T	0.04203	-1.0969	10	0.66056	D	0.02	.	15.2916	0.73870	0.256:0.744:0.0:0.0	.	747	O95025	SEM3D_HUMAN	V	747	ENSP00000284136:G747V	ENSP00000284136:G747V	G	-	2	0	SEMA3D	84466786	0.123000	0.22298	0.379000	0.26080	0.881000	0.50899	1.682000	0.37628	0.790000	0.33803	0.655000	0.94253	GGC		0.498	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		28	73	1	0	4.87955e-14	1	6.25341e-14	28	73				
RGMB	285704	broad.mit.edu	37	5	98128960	98128960	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:98128960G>C	ENST00000513185.1	+	3	1253	c.817G>C	c.(817-819)Gcc>Ccc	p.A273P	RGMB_ENST00000308234.7_Missense_Mutation_p.A314P			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	273					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GGAGATGCACGCCCGCTATAT	0.607																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(940-942)Gcc>Ccc		repulsive guidance molecule family member b							50.0	53.0	52.0					5																	98128960		2155	4260	6415	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98128960G>C	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.817G>C	5.37:g.98128960G>C	ENSP00000423256:p.Ala273Pro					RGMB_ENST00000513185.1_Missense_Mutation_p.A273P	p.A314P	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1342	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	273					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.940G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.122446	0.94429	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.86562	-2.14;-2.14	5.75	5.75	0.90469	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94339	0.7569	10	0.72032	D	0.01	-21.6714	19.9165	0.97064	0.0:0.0:1.0:0.0	.	273	Q6NW40	RGMB_HUMAN	P	314;273	ENSP00000308219:A314P;ENSP00000423256:A273P	ENSP00000308219:A314P	A	+	1	0	RGMB	98156860	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.818000	0.99354	2.705000	0.92388	0.563000	0.77884	GCC		0.607	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		17	34	0	0	0	1	0	17	34				
SH3RF2	153769	broad.mit.edu	37	5	145393619	145393619	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:145393619G>C	ENST00000511217.1	+	4	1106	c.1054G>C	c.(1054-1056)Gga>Cga	p.G352R	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G352R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	352					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTGTGTGGGACAGGTAGG	0.507																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1054-1056)Gga>Cga		SH3 domain containing ring finger 2							74.0	73.0	73.0					5																	145393619		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393619G>C	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1054G>C	5.37:g.145393619G>C	ENSP00000424497:p.Gly352Arg					SH3RF2_ENST00000359120.4_Missense_Mutation_p.G352R	p.G352R			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1106	+			352					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1054G>C	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446103	0.63178	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.17213	2.29;2.29	5.42	5.42	0.78866	.	0.161608	0.41823	D	0.000806	T	0.16514	0.0397	N	0.24115	0.695	0.09310	N	0.999999	D	0.61080	0.989	P	0.50440	0.641	T	0.17379	-1.0371	10	0.12430	T	0.62	-18.8409	14.6551	0.68828	0.0:0.1462:0.8538:0.0	.	352	Q8TEC5	SH3R2_HUMAN	R	352	ENSP00000352028:G352R;ENSP00000424497:G352R	ENSP00000352028:G352R	G	+	1	0	SH3RF2	145373812	0.063000	0.20901	0.917000	0.36280	0.190000	0.23558	2.529000	0.45632	2.700000	0.92200	0.585000	0.79938	GGA		0.507	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		32	52	0	0	0	1	0	32	52				
CHD7	55636	broad.mit.edu	37	8	61761091	61761091	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:61761091G>A	ENST00000423902.2	+	24	5707	c.5228G>A	c.(5227-5229)cGc>cAc	p.R1743H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1743					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGCGTGTCCGCATGCTGTAC	0.502																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(5227-5229)cGc>cAc		chromodomain helicase DNA binding protein 7							121.0	118.0	119.0					8																	61761091		1980	4171	6151	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61761091G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5228G>A	8.37:g.61761091G>A	ENSP00000392028:p.Arg1743His					CHD7_ENST00000524602.1_Intron	p.R1743H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		24	5707	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1743					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5228G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908986	0.72868	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.85955	-2.05	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.87755	0.6257	M	0.66378	2.025	0.80722	D	1	P	0.52463	0.953	P	0.47744	0.556	D	0.89571	0.3813	10	0.87932	D	0	-11.9205	18.9096	0.92477	0.0:0.0:1.0:0.0	.	1743	Q9P2D1	CHD7_HUMAN	H	1743	ENSP00000392028:R1743H	ENSP00000307304:R1743H	R	+	2	0	CHD7	61923645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.545000	0.85829	0.650000	0.86243	CGC		0.502	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		11	19	0	0	0	1	0	11	19				
SLC25A53	401612	broad.mit.edu	37	X	103349901	103349901	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:103349901G>T	ENST00000357421.4	-	2	220	c.40C>A	c.(40-42)Cac>Aac	p.H14N		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	14					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CGCGTCCTGTGCTGAAGCTCC	0.527																																						ENST00000357421.4																			0											c.(40-42)Cac>Aac		solute carrier family 25, member 53							51.0	47.0	49.0					X																	103349901		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349901G>T		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.40C>A	X.37:g.103349901G>T	ENSP00000361681:p.His14Asn						p.H14N	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	220	-			14					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.40C>A	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	1.773	-0.483780	0.04383	.	.	ENSG00000176274	ENST00000357421	T	0.73363	-0.74	3.49	3.49	0.39957	.	0.862190	0.10101	N	0.716003	T	0.55737	0.1939	N	0.14661	0.345	0.23113	N	0.998275	B	0.14012	0.009	B	0.08055	0.003	T	0.35822	-0.9773	10	0.18710	T	0.47	-7.2995	9.5782	0.39470	0.0:0.0:1.0:0.0	.	14	Q5H9E4	MCAR6_HUMAN	N	14	ENSP00000361681:H14N	ENSP00000361681:H14N	H	-	1	0	MCART6	103236557	0.193000	0.23313	0.905000	0.35620	0.063000	0.16089	0.616000	0.24344	2.005000	0.58758	0.519000	0.50382	CAC		0.527	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		19	51	1	0	1.2644e-06	1	1.39666e-06	19	51				
LMTK3	114783	broad.mit.edu	37	19	49004799	49004799	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:49004799C>A	ENST00000600059.1	-	8	1042	c.815G>T	c.(814-816)tGc>tTc	p.C272F	LMTK3_ENST00000270238.3_Missense_Mutation_p.C301F			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGTCAGCAGGCAGTTGCGCAG	0.672																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(814-816)tGc>tTc		lemur tyrosine kinase 3							38.0	47.0	44.0					19																	49004799		2193	4267	6460	SO:0001583	missense	114783							g.chr19:49004799C>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.815G>T	19.37:g.49004799C>A	ENSP00000472020:p.Cys272Phe					LMTK3_ENST00000270238.3_Missense_Mutation_p.C301F	p.C272F						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	8	1042	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.815G>T		.	.	.	.	.	.	.	.	.	.	C	24.6	4.546733	0.86022	.	.	ENSG00000142235	ENST00000270238	D	0.83755	-1.76	3.48	3.48	0.39840	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.90293	0.6964	M	0.80422	2.495	0.58432	D	0.999995	D	0.76494	0.999	D	0.91635	0.999	D	0.91565	0.5267	10	0.87932	D	0	.	12.8686	0.57953	0.0:1.0:0.0:0.0	.	272	Q96Q04	LMTK3_HUMAN	F	301	ENSP00000270238:C301F	ENSP00000270238:C301F	C	-	2	0	LMTK3	53696611	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.824000	0.75288	1.955000	0.56771	0.450000	0.29827	TGC		0.672	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		7	16	1	0	0.000274275	1	0.000287907	7	16				
TRAV12-3	28672	broad.mit.edu	37	14	22433772	22433772	+	RNA	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:22433772T>A	ENST00000390442.3	+	0	93									T cell receptor alpha variable 12-3																		GGTGATCCTGTGGCTTCAGTT	0.368																																						ENST00000390442.3																			0																				141.0	140.0	140.0					14																	22433772		1868	4097	5965			28672							g.chr14:22433772T>A	X06193		14q11.2	2012-02-07			ENSG00000211794	ENSG00000211794		"""T cell receptors / TRA locus"""	12107	other	T cell receptor gene						3501368, 8951372	Standard	NG_001332		Approved	TRAV123, TCRAV2S2, TCRAV12S3			OTTHUMG00000170640		14.37:g.22433772T>A														0	93	+									RNA	SNP	ENST00000390442.3	37																																																																																						0.368	TRAV12-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409888.1	NG_001332		14	42	0	0	0	1	0	14	42				
PLXNA3	55558	broad.mit.edu	37	X	153693822	153693822	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:153693822G>T	ENST00000369682.3	+	12	2475	c.2300G>T	c.(2299-2301)tGg>tTg	p.W767L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	767					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCGTGGTCTGGGATGGAGAC	0.572																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2299-2301)tGg>tTg		plexin A3							111.0	101.0	104.0					X																	153693822		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153693822G>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2300G>T	X.37:g.153693822G>T	ENSP00000358696:p.Trp767Leu						p.W767L	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			12	2475	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		767					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.2300G>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180204	0.78564	.	.	ENSG00000130827	ENST00000369682	T	0.66280	-0.2	5.45	5.45	0.79879	.	0.058123	0.85682	D	0.000000	T	0.67702	0.2921	M	0.81341	2.54	0.80722	D	1	B	0.20780	0.048	B	0.24394	0.053	T	0.68629	-0.5358	10	0.87932	D	0	.	16.9704	0.86297	0.0:0.0:1.0:0.0	.	767	P51805	PLXA3_HUMAN	L	767	ENSP00000358696:W767L	ENSP00000358696:W767L	W	+	2	0	PLXNA3	153347016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.848000	0.86902	2.270000	0.75569	0.529000	0.55759	TGG		0.572	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		53	82	1	0	4.32865e-36	1	6.74197e-36	53	82				
VCAN	1462	broad.mit.edu	37	5	82816584	82816584	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:82816584C>A	ENST00000265077.3	+	7	3024	c.2459C>A	c.(2458-2460)cCt>cAt	p.P820H	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P820H|VCAN_ENST00000512590.2_Missense_Mutation_p.P772H|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	820	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCTACAGAACCTTCAGCCTCT	0.433																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2458-2460)cCt>cAt		versican							108.0	107.0	107.0					5																	82816584		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816584C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2459C>A	5.37:g.82816584C>A	ENSP00000265077:p.Pro820His					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P772H|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P820H	p.P820H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3024	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	820			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2459C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.204505	0.00296	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.15603	2.41;2.41;2.41	5.79	-1.4	0.08968	.	0.699482	0.13672	N	0.370828	T	0.04815	0.0130	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42498	-0.9448	10	0.18276	T	0.48	.	6.0608	0.19837	0.3933:0.445:0.1617:0.0	.	820;820	P13611-3;P13611	.;CSPG2_HUMAN	H	820;820;772	ENSP00000265077:P820H;ENSP00000342768:P820H;ENSP00000425959:P772H	ENSP00000265077:P820H	P	+	2	0	VCAN	82852340	0.002000	0.14202	0.023000	0.16930	0.003000	0.03518	0.045000	0.14013	-0.131000	0.11578	-1.107000	0.02091	CCT		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		24	68	1	0	2.21704e-12	1	2.74144e-12	24	68				
MAGEA11	4110	broad.mit.edu	37	X	148797311	148797311	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:148797311C>A	ENST00000355220.5	+	4	342	c.240C>A	c.(238-240)acC>acA	p.T80T	MAGEA11_ENST00000333104.4_Silent_p.T51T	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	80						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGGAGAACCCAGAGGATCA	0.502																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(238-240)acC>acA		melanoma antigen family A, 11							140.0	129.0	133.0					X																	148797311		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148797311C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.240C>A	X.37:g.148797311C>A						MAGEA11_ENST00000333104.4_Silent_p.T51T	p.T80T	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			4	342	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		80					Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.240C>A	CCDS48180.1																																																																																				0.502	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		74	109	1	0	3.47267e-51	1	5.50622e-51	74	109				
ZNF479	90827	broad.mit.edu	37	7	57194308	57194308	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:57194308C>A	ENST00000331162.4	-	3	427	c.157G>T	c.(157-159)Gtc>Ttc	p.V53F		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	53	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCCAGGGAGACCAGGTTTCTG	0.368																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(157-159)Gtc>Ttc		zinc finger protein 479							91.0	94.0	93.0					7																	57194308		2200	4299	6499	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194308C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.157G>T	7.37:g.57194308C>A	ENSP00000333776:p.Val53Phe						p.V53F	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	427	-			53			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.157G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	5.141	0.211549	0.09757	.	.	ENSG00000185177	ENST00000331162	T	0.02301	4.35	1.25	1.25	0.21368	Krueppel-associated box (4);	.	.	.	.	T	0.04861	0.0131	M	0.87180	2.865	0.20703	N	0.999869	B	0.18166	0.026	B	0.23275	0.045	T	0.24764	-1.0151	9	0.49607	T	0.09	.	5.3241	0.15896	0.0:0.633:0.367:0.0	.	53	Q96JC4	ZN479_HUMAN	F	53	ENSP00000333776:V53F	ENSP00000333776:V53F	V	-	1	0	ZNF479	57198250	0.000000	0.05858	0.744000	0.31058	0.674000	0.39518	-2.255000	0.01182	0.669000	0.31146	0.393000	0.25936	GTC		0.368	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		31	253	1	0	8.4185e-14	1	1.07366e-13	31	253				
ZP4	57829	broad.mit.edu	37	1	238050124	238050124	+	Silent	SNP	A	A	G	rs566640263		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:238050124A>G	ENST00000366570.4	-	6	944	c.786T>C	c.(784-786)acT>acC	p.T262T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	262	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACATCCCTAGTTGCCACCA	0.473													A|||	1	0.000199681	0.0	0.0	5008	,	,		21005	0.0		0.0	False		,,,				2504	0.001				NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(784-786)acT>acC		zona pellucida glycoprotein 4							196.0	179.0	185.0					1																	238050124		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050124A>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.786T>C	1.37:g.238050124A>G						RP11-193H5.1_ENST00000450451.1_RNA	p.T262T	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		6	944	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	262			ZP.		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.786T>C	CCDS1615.1																																																																																				0.473	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			20	67	0	0	0	1	0	20	67				
ACTL7A	10881	broad.mit.edu	37	9	111625197	111625197	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:111625197G>A	ENST00000333999.3	+	1	595	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	199						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AATGCACATCGCCTACCAGTC	0.577																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(595-597)Gcc>Acc		actin-like 7A							112.0	107.0	109.0					9																	111625197		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625197G>A	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.595G>A	9.37:g.111625197G>A	ENSP00000334300:p.Ala199Thr						p.A199T	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	595	+			199					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.595G>A	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563676	0.86335	.	.	ENSG00000187003	ENST00000333999	D	0.95137	-3.62	5.98	5.98	0.97165	.	0.000000	0.46145	D	0.000301	D	0.95095	0.8411	L	0.52573	1.65	0.58432	D	0.999999	D	0.69078	0.997	P	0.53722	0.733	D	0.95228	0.8340	10	0.87932	D	0	.	17.952	0.89056	0.0:0.0:1.0:0.0	.	199	Q9Y615	ACL7A_HUMAN	T	199	ENSP00000334300:A199T	ENSP00000334300:A199T	A	+	1	0	ACTL7A	110665018	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.841000	0.99482	2.835000	0.97688	0.650000	0.86243	GCC		0.577	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		31	20	0	0	0	1	0	31	20				
KIT	3815	broad.mit.edu	37	4	55602953	55602953	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:55602953G>T	ENST00000288135.5	+	19	2760	c.2663G>T	c.(2662-2664)cGg>cTg	p.R888L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAGGCTTCCGGATGCTCAGC	0.428		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2662-2664)cGg>cTg		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	81.0	82.0					4																	55602953		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602953G>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2663G>T	4.37:g.55602953G>T	ENSP00000288135:p.Arg888Leu						p.R888L	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	19	2760	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		888			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2663G>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210395	0.79240	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.85258	-1.96;-1.96	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	D	0.91761	0.7394	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92113	0.5697	10	0.87932	D	0	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	884;888	P10721-2;P10721	.;KIT_HUMAN	L	888;884	ENSP00000288135:R888L;ENSP00000390987:R884L	ENSP00000288135:R888L	R	+	2	0	KIT	55297710	1.000000	0.71417	0.980000	0.43619	0.527000	0.34593	7.763000	0.85283	2.625000	0.88918	0.655000	0.94253	CGG		0.428	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			24	54	1	0	3.7963e-18	1	5.13961e-18	24	54				
HECTD4	283450	broad.mit.edu	37	12	112600979	112600979	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:112600979C>T	ENST00000430131.2	-	74	12866	c.11721G>A	c.(11719-11721)gaG>gaA	p.E3907E	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Silent_p.E4183E|HECTD4_ENST00000377560.5_Silent_p.E4157E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3907	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTTGCACAGCTCCTCCTGGG	0.617																																						ENST00000550722.1																			0											c.(12547-12549)gaG>gaA		HECT domain containing E3 ubiquitin protein ligase 4							86.0	100.0	95.0					12																	112600979		2060	4197	6257	SO:0001819	synonymous_variant	283450							g.chr12:112600979C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11721G>A	12.37:g.112600979C>T						HECTD4_ENST00000430131.2_Silent_p.E3907E|HECTD4_ENST00000377560.5_Silent_p.E4157E	p.E4183E	NM_001109662.3	NP_001103132.3					75	12944	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.12549G>A																																																																																					0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		15	71	0	0	0	1	0	15	71				
MACROD2	140733	broad.mit.edu	37	20	15918146	15918146	+	Silent	SNP	C	C	A	rs199583911		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:15918146C>A	ENST00000310348.4	+	12	864	c.864C>A	c.(862-864)ccC>ccA	p.P288P	MACROD2_ENST00000217246.4_Silent_p.P288P|MACROD2_ENST00000402914.1_Silent_p.P53P|MACROD2_ENST00000378058.3_Silent_p.P53P			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	288	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.P53P(1)|p.P288P(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCACTGTGCCCGGCCCTGCTT	0.463																																						ENST00000217246.4																			2	Substitution - coding silent(2)	p.P53P(1)|p.P288P(1)	lung(2)	breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(862-864)ccC>ccA		MACRO domain containing 2							130.0	135.0	133.0					20																	15918146		2203	4300	6503	SO:0001819	synonymous_variant	140733							g.chr20:15918146C>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.864C>A	20.37:g.15918146C>A						MACROD2_ENST00000310348.4_Silent_p.P288P|MACROD2_ENST00000378058.3_Silent_p.P53P|MACROD2_ENST00000402914.1_Silent_p.P53P	p.P288P	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			12	1259	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	288			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	c.864C>A	CCDS13120.2																																																																																				0.463	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		43	86	1	0	1.47857e-17	1	1.96647e-17	43	86				
FBXO38	81545	broad.mit.edu	37	5	147820769	147820769	+	Silent	SNP	C	C	T	rs577469242		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:147820769C>T	ENST00000340253.5	+	21	3525	c.3357C>T	c.(3355-3357)ttC>ttT	p.F1119F	FBXO38_ENST00000513826.1_Silent_p.F874F|FBXO38_ENST00000394370.3_Silent_p.F1044F|FBXO38_ENST00000296701.6_Silent_p.F874F			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1119					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACAGCTTCGCTCGATACG	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		17493	0.0		0.0	False		,,,				2504	0.001					ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(3355-3357)ttC>ttT		F-box protein 38							218.0	181.0	194.0					5																	147820769		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147820769C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3357C>T	5.37:g.147820769C>T						FBXO38_ENST00000394370.3_Silent_p.F1044F|FBXO38_ENST00000513826.1_Silent_p.F874F|FBXO38_ENST00000296701.6_Silent_p.F874F	p.F1119F			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	3525	+			1119					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.3357C>T																																																																																					0.403	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		38	56	0	0	0	1	0	38	56				
ARFGEF1	10565	broad.mit.edu	37	8	68140271	68140271	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:68140271G>A	ENST00000262215.3	-	25	3907	c.3518C>T	c.(3517-3519)tCa>tTa	p.S1173L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S627L|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S11L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1173					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTGTAATATGATATTTCTAC	0.343																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3517-3519)tCa>tTa		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							96.0	95.0	96.0					8																	68140271		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68140271G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3518C>T	8.37:g.68140271G>A	ENSP00000262215:p.Ser1173Leu					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S11L|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S627L	p.S1173L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		25	3907	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1173					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3518C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995452	0.93167	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.06	5.06	0.68205	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.81914	0.995;0.971;0.971	D	0.86654	0.1900	10	0.87932	D	0	.	18.4226	0.90597	0.0:0.0:1.0:0.0	.	1173;651;627	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	L	627;1173;11;22	ENSP00000428429:S627L;ENSP00000262215:S1173L;ENSP00000430891:S11L;ENSP00000429138:S22L	ENSP00000262215:S1173L	S	-	2	0	ARFGEF1	68302825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.335000	0.79485	0.650000	0.86243	TCA		0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		16	51	0	0	0	1	0	16	51				
SDK1	221935	broad.mit.edu	37	7	3991474	3991474	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:3991474G>A	ENST00000404826.2	+	7	1211	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	SDK1_ENST00000389531.3_Missense_Mutation_p.G358R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	358	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCGGACACCGGGCCATACGT	0.607																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1072-1074)Ggg>Agg		sidekick cell adhesion molecule 1							53.0	53.0	53.0					7																	3991474		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3991474G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1072G>A	7.37:g.3991474G>A	ENSP00000385899:p.Gly358Arg					SDK1_ENST00000389531.3_Missense_Mutation_p.G358R	p.G358R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1211	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	358			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1072G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088875	0.55968	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.60424	0.19;0.19	4.87	4.87	0.63330	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.87140	0.6103	H	0.99682	4.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93060	0.6473	10	0.87932	D	0	.	16.5463	0.84446	0.0:0.0:1.0:0.0	.	358	Q7Z5N4	SDK1_HUMAN	R	358	ENSP00000385899:G358R;ENSP00000374182:G358R	ENSP00000374182:G358R	G	+	1	0	SDK1	3958000	1.000000	0.71417	0.083000	0.20561	0.024000	0.10985	7.393000	0.79851	2.410000	0.81850	0.655000	0.94253	GGG		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		28	26	0	0	0	1	0	28	26				
GRM1	2911	broad.mit.edu	37	6	146480485	146480485	+	Splice_Site	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:146480485G>T	ENST00000282753.1	+	2	937	c.702G>T	c.(700-702)ggG>ggT	p.G234G	GRM1_ENST00000507907.1_Splice_Site_p.G234G|GRM1_ENST00000361719.2_Splice_Site_p.G234G|GRM1_ENST00000355289.4_Splice_Site_p.G234G|GRM1_ENST00000392299.2_Splice_Site_p.G234G|GRM1_ENST00000492807.2_Splice_Site_p.G234G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	234					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)		TCTGGACAGGGAATTATGGGG	0.473																																						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.e3-1		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						110.0	105.0	107.0					6																	146480485		2203	4300	6503	SO:0001630	splice_region_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480485G>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.701-1G>T	6.37:g.146480485G>T						GRM1_ENST00000355289.4_Splice_Site_p.G234_splice|GRM1_ENST00000507907.1_Splice_Site_p.G234_splice|GRM1_ENST00000492807.2_Splice_Site_p.G234_splice|GRM1_ENST00000361719.2_Splice_Site_p.G234_splice|GRM1_ENST00000282753.1_Splice_Site_p.G234_splice	p.G234_splice			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1172	+		Ovarian(120;0.0387)	234					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Splice_Site	SNP	ENST00000282753.1	37	c.700_splice	CCDS5209.1																																																																																				0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	Silent	22	63	1	0	1.17739e-12	1	1.4593e-12	22	63				
SYNE1	23345	broad.mit.edu	37	6	152529292	152529292	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:152529292C>T	ENST00000367255.5	-	125	23240	c.22639G>A	c.(22639-22641)Gtg>Atg	p.V7547M	SYNE1_ENST00000423061.1_Missense_Mutation_p.V7476M|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7547M|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7476M|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2071M|SYNE1_ENST00000341594.5_Missense_Mutation_p.V7159M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7547					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCGAATCACTCCCTGCCAT	0.473										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22639-22641)Gtg>Atg		spectrin repeat containing, nuclear envelope 1							72.0	74.0	73.0					6																	152529292		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152529292C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22639G>A	6.37:g.152529292C>T	ENSP00000356224:p.Val7547Met	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.V7159M|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2071M|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7547M|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7476M|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7476M	p.V7547M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	125	23240	-		Ovarian(120;0.0955)	7547					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22639G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851632	0.91355	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.53423	1.21;0.62;1.21;1.21;1.21;1.21;0.62;0.62	5.58	5.58	0.84498	.	0.000000	0.50627	D	0.000107	T	0.66086	0.2754	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.68804	-0.5312	10	0.72032	D	0.01	.	19.5733	0.95430	0.0:1.0:0.0:0.0	.	7547;7547;7476;7476	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	M	7547;193;7476;7547;7476;7159;2071;469	ENSP00000356224:V7547M;ENSP00000356226:V193M;ENSP00000396024:V7476M;ENSP00000265368:V7547M;ENSP00000390975:V7476M;ENSP00000341887:V7159M;ENSP00000349276:V2071M;ENSP00000356220:V469M	ENSP00000265368:V7547M	V	-	1	0	SYNE1	152570985	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.818000	0.86416	2.618000	0.88619	0.563000	0.77884	GTG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		20	43	0	0	0	1	0	20	43				
FAM47C	442444	broad.mit.edu	37	X	37026510	37026510	+	Silent	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:37026510G>C	ENST00000358047.3	+	1	79	c.27G>C	c.(25-27)cgG>cgC	p.R9R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	9								p.R9R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGCAGGACCGGCCCAGTTCCC	0.657																																						ENST00000358047.3																			2	Substitution - coding silent(2)	p.R9R(2)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(25-27)cgG>cgC		family with sequence similarity 47, member C							17.0	17.0	17.0					X																	37026510		2200	4298	6498	SO:0001819	synonymous_variant	442444							g.chrX:37026510G>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.27G>C	X.37:g.37026510G>C							p.R9R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	79	+			9					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.27G>C	CCDS35227.1																																																																																				0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	27	0	0	0	1	0	6	27				
GABRE	2564	broad.mit.edu	37	X	151138711	151138711	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:151138711T>A	ENST00000370328.3	-	2	273	c.220A>T	c.(220-222)Atc>Ttc	p.I74F	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.I74F	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	74					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTGTTCAGGATGCGAGAGGCT	0.542																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(220-222)Atc>Ttc		gamma-aminobutyric acid (GABA) A receptor, epsilon							179.0	159.0	166.0					X																	151138711		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138711T>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.220A>T	X.37:g.151138711T>A	ENSP00000359353:p.Ile74Phe					GABRE_ENST00000370328.3_Missense_Mutation_p.I74F|GABRE_ENST00000393914.3_5'UTR	p.I74F			P78334	GBRE_HUMAN			2	273	-	Acute lymphoblastic leukemia(192;6.56e-05)		74					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.220A>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	t	19.95	3.921091	0.73213	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79554	-1.28;-1.28	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.50627	D	0.000103	D	0.85831	0.5788	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85639	0.1275	10	0.48119	T	0.1	.	10.5374	0.45013	0.0:0.0:0.0:1.0	.	74	P78334	GBRE_HUMAN	F	74	ENSP00000359353:I74F;ENSP00000359350:I74F	ENSP00000359350:I74F	I	-	1	0	GABRE	150889367	0.998000	0.40836	0.750000	0.31169	0.809000	0.45718	2.947000	0.49058	1.827000	0.53221	0.483000	0.47432	ATC		0.542	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		78	109	0	0	0	1	0	78	109				
CATSPER2	117155	broad.mit.edu	37	15	43940221	43940221	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:43940221G>T	ENST00000321596.5	-	2	238	c.39C>A	c.(37-39)ccC>ccA	p.P13P	CATSPER2_ENST00000381761.1_Silent_p.P19P|CATSPER2_ENST00000396879.1_Silent_p.P13P|CATSPER2_ENST00000355438.2_Silent_p.P13P|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.P13P|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	13					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CATCAGCTCGGGGAAGCTGCA	0.488																																						ENST00000396879.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(37-39)ccC>ccA		cation channel, sperm associated 2							239.0	239.0	239.0					15																	43940221		2199	4296	6495	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43940221G>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.39C>A	15.37:g.43940221G>T						STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Silent_p.P13P|CATSPER2_ENST00000381761.1_Silent_p.P19P|CATSPER2_ENST00000355438.2_Silent_p.P13P|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.P13P	p.P13P			Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	3	151	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	13					Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.39C>A	CCDS10099.1																																																																																				0.488	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		186	105	1	0	5.80983e-94	1	9.26765e-94	186	105				
OTUD7B	56957	broad.mit.edu	37	1	149939440	149939440	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:149939440C>T	ENST00000369135.4	-	4	575	c.281G>A	c.(280-282)cGc>cAc	p.R94H	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	94					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTAGACAGGCGTTTTTCTGC	0.542																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(280-282)cGc>cAc		OTU domain containing 7B							38.0	42.0	40.0					1																	149939440		1942	4150	6092	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149939440C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.281G>A	1.37:g.149939440C>T	ENSP00000358131:p.Arg94His					OTUD7B_ENST00000479905.1_Intron	p.R94H	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		4	575	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		94					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.281G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055352	0.93793	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.36157	1.27;1.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45116	-0.9283	9	.	.	.	-27.1555	18.0058	0.89209	0.0:1.0:0.0:0.0	.	94	Q6GQQ9	OTU7B_HUMAN	H	94	ENSP00000358131:R94H;ENSP00000408231:R94H	.	R	-	2	0	OTUD7B	148206064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.729000	0.93468	0.557000	0.71058	CGC		0.542	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		9	31	0	0	0	1	0	9	31				
XIAP	331	broad.mit.edu	37	X	123019940	123019940	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:123019940C>A	ENST00000371199.3	+	2	727	c.428C>A	c.(427-429)aCt>aAt	p.T143N	XIAP_ENST00000355640.3_Missense_Mutation_p.T143N|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.T143N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	143	Interaction with caspase-7.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CTTTTGAGAACTGGGCAGGTT	0.428									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(427-429)aCt>aAt		X-linked inhibitor of apoptosis							96.0	94.0	94.0					X																	123019940		2203	4300	6503	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019940C>A	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.428C>A	X.37:g.123019940C>A	ENSP00000360242:p.Thr143Asn					XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.T143N|XIAP_ENST00000355640.3_Missense_Mutation_p.T143N	p.T143N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	727	+			143			Interaction with caspase-7.		D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.428C>A	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415712	0.62511	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	T;T;T;T	0.72051	-0.62;0.15;-0.62;-0.62	5.74	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.70275	2.135	0.54753	D	0.999986	P	0.49253	0.921	P	0.54270	0.747	T	0.79492	-0.1781	9	.	.	.	-5.5174	15.9283	0.79639	0.0:0.869:0.131:0.0	.	143	P98170	XIAP_HUMAN	N	143	ENSP00000395230:T143N;ENSP00000400637:T143N;ENSP00000360242:T143N;ENSP00000347858:T143N	.	T	+	2	0	XIAP	122847621	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.271000	0.58902	2.429000	0.82318	0.508000	0.49915	ACT		0.428	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		43	99	1	0	1.5731e-28	1	2.37994e-28	43	99				
CSMD3	114788	broad.mit.edu	37	8	113347703	113347703	+	Splice_Site	SNP	C	C	G	rs372658569		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:113347703C>G	ENST00000297405.5	-	45	7264	c.7020G>C	c.(7018-7020)tgG>tgC	p.W2340C	CSMD3_ENST00000455883.2_Splice_Site_p.W2236C|CSMD3_ENST00000352409.3_Splice_Site_p.W2270C|CSMD3_ENST00000343508.3_Splice_Site_p.W2300C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2340	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGTCCATCCCTATGAGACA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e45-1		CUB and Sushi multiple domains 3		C	CYS/TRP,CYS/TRP,CYS/TRP	0,4406		0,0,2203	93.0	85.0	87.0		6708,7020,6900	4.8	1.0	8		87	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	215,215,215	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	2236/3539,2340/3708,2300/3668	113347703	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113347703C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7020-1G>C	8.37:g.113347703C>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.W2270_splice|CSMD3_ENST00000455883.2_Splice_Site_p.W2236_splice|CSMD3_ENST00000343508.3_Splice_Site_p.W2300_splice	p.W2340_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			45	7264	-			2340			CUB 13.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.7019_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051388	0.75960	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.83	4.83	0.62350	CUB (5);	0.000000	0.64402	D	0.000001	T	0.78046	0.4222	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.77707	-0.2487	10	0.37606	T	0.19	.	18.4675	0.90761	0.0:1.0:0.0:0.0	.	2236;2340;2300	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2300;2340;1610;2236;2270	ENSP00000345799:W2300C;ENSP00000297405:W2340C;ENSP00000341558:W1610C;ENSP00000412263:W2236C;ENSP00000343124:W2270C	ENSP00000297405:W2340C	W	-	3	0	CSMD3	113416879	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.548000	0.82154	2.674000	0.91012	0.585000	0.79938	TGG		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	13	31	0	0	0	1	0	13	31				
MYH8	4626	broad.mit.edu	37	17	10304968	10304968	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:10304968G>T	ENST00000403437.2	-	23	2917	c.2823C>A	c.(2821-2823)gcC>gcA	p.A941A	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	941					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTCTTCTTGGCTGTCAGCT	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2821-2823)gcC>gcA		myosin, heavy chain 8, skeletal muscle, perinatal							369.0	351.0	357.0					17																	10304968		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304968G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2823C>A	17.37:g.10304968G>T						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A941A	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			23	2917	-			941					Q14910	Silent	SNP	ENST00000403437.2	37	c.2823C>A	CCDS11153.1																																																																																				0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		60	78	1	0	8.72158e-25	1	1.28631e-24	60	78				
NXPE3	91775	broad.mit.edu	37	3	101540442	101540442	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:101540442A>G	ENST00000491511.2	+	8	2280	c.1324A>G	c.(1324-1326)Ata>Gta	p.I442V	NXPE3_ENST00000273347.5_Missense_Mutation_p.I442V|NXPE3_ENST00000477909.1_Missense_Mutation_p.I442V|NXPE3_ENST00000422132.1_Missense_Mutation_p.I442V|RP11-49I4.3_ENST00000490324.2_RNA	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	442						extracellular region (GO:0005576)											AGTGGTTGCCATAGCTGTATG	0.542																																						ENST00000422132.1																			0											c.(1324-1326)Ata>Gta		neurexophilin and PC-esterase domain family, member 3							132.0	107.0	116.0					3																	101540442		2203	4300	6503	SO:0001583	missense	91775							g.chr3:101540442A>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1324A>G	3.37:g.101540442A>G	ENSP00000417485:p.Ile442Val					NXPE3_ENST00000491511.1_Missense_Mutation_p.I442V|NXPE3_ENST00000273347.5_Missense_Mutation_p.I442V|NXPE3_ENST00000477909.1_Missense_Mutation_p.I442V	p.I442V							5	1521	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.1324A>G	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380938	0.42207	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.03	4.81	0.61882	.	0.132156	0.64402	D	0.000002	T	0.22513	0.0543	M	0.62088	1.915	0.44485	D	0.997429	B	0.27117	0.168	B	0.20184	0.028	T	0.03148	-1.1067	10	0.48119	T	0.1	-18.027	12.2344	0.54508	0.8727:0.0:0.0:0.1273	.	442	Q969Y0	FA55C_HUMAN	V	442	ENSP00000273347:I442V;ENSP00000417485:I442V;ENSP00000418369:I442V;ENSP00000396421:I442V	ENSP00000273347:I442V	I	+	1	0	FAM55C	103023132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.806000	0.38892	2.308000	0.77769	0.533000	0.62120	ATA		0.542	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		14	49	0	0	0	1	0	14	49				
PAQR5	54852	broad.mit.edu	37	15	69682054	69682054	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:69682054T>G	ENST00000340965.3	+	6	1115	c.447T>G	c.(445-447)caT>caG	p.H149Q	PAQR5_ENST00000561153.1_Missense_Mutation_p.H149Q|RP11-253M7.6_ENST00000560870.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.H149Q|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	149					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCACTTTCCATGACTACTACG	0.592																																						ENST00000340965.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						c.(445-447)caT>caG		progestin and adipoQ receptor family member V							176.0	130.0	146.0					15																	69682054		2199	4298	6497	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69682054T>G		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.447T>G	15.37:g.69682054T>G	ENSP00000343877:p.His149Gln					PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Missense_Mutation_p.H149Q|PAQR5_ENST00000561153.1_Missense_Mutation_p.H149Q	p.H149Q	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN			6	1115	+			149					Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.447T>G	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	T	9.053	0.992501	0.18966	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.29397	1.57;1.57	4.66	-9.32	0.00643	.	0.048709	0.85682	D	0.000000	T	0.26340	0.0643	L	0.54863	1.705	0.27313	N	0.95727	B	0.30605	0.287	B	0.41666	0.363	T	0.33777	-0.9855	10	0.23891	T	0.37	-23.2304	10.9558	0.47356	0.0:0.1463:0.1608:0.6929	.	149	Q9NXK6	MPRG_HUMAN	Q	149	ENSP00000378803:H149Q;ENSP00000343877:H149Q	ENSP00000343877:H149Q	H	+	3	2	PAQR5	67469108	0.000000	0.05858	0.043000	0.18650	0.003000	0.03518	-1.848000	0.01673	-3.174000	0.00224	-1.032000	0.02404	CAT		0.592	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		30	58	0	0	0	1	0	30	58				
FXYD1	5348	broad.mit.edu	37	19	35631532	35631532	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:35631532C>T	ENST00000588081.1	+	2	151	c.93C>T	c.(91-93)taC>taT	p.Y31Y	LGI4_ENST00000493050.1_Intron|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000588265.1_5'Flank|FXYD7_ENST00000586063.1_5'Flank|FXYD1_ENST00000588715.1_Splice_Site_p.Y31Y|FXYD7_ENST00000270310.2_5'Flank|FXYD1_ENST00000589209.1_Splice_Site_p.Y31Y|FXYD1_ENST00000351325.4_Splice_Site_p.Y31Y|FXYD1_ENST00000588607.1_Splice_Site_p.Y31Y|FXYD1_ENST00000455515.2_Splice_Site_p.Y31Y			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	31					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGTTCACTTACGGTGAGCGGG	0.562																																						ENST00000588081.1																			0				lung(3)	3						c.e2+1		FXYD domain containing ion transport regulator 1							76.0	81.0	79.0					19																	35631532		2203	4300	6503	SO:0001630	splice_region_variant	5348				muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35631532C>T		CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"""phospholemman"""	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.94+1C>T	19.37:g.35631532C>T						FXYD1_ENST00000589209.1_Splice_Site_p.Y31_splice|FXYD1_ENST00000588715.1_Splice_Site_p.Y31_splice|FXYD1_ENST00000351325.4_Splice_Site_p.Y31_splice|FXYD1_ENST00000455515.2_Splice_Site_p.Y31_splice|CTD-2527I21.4_ENST00000592174.1_RNA|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000588607.1_Splice_Site_p.Y31_splice	p.Y31_splice			O00168	PLM_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		2	151	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		31					A8K196	Splice_Site	SNP	ENST00000588081.1	37	c.94_splice	CCDS12445.1																																																																																				0.562	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902	Silent	20	52	0	0	0	1	0	20	52				
RAD9B	144715	broad.mit.edu	37	12	110957688	110957688	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:110957688C>G	ENST00000409778.3	+	7	674	c.650C>G	c.(649-651)cCa>cGa	p.P217R	RAD9B_ENST00000409425.1_Missense_Mutation_p.P214R|RAD9B_ENST00000409246.1_Missense_Mutation_p.P214R|RAD9B_ENST00000392672.4_Missense_Mutation_p.P286R|RAD9B_ENST00000409300.1_Missense_Mutation_p.P286R			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	283					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCATCTTCACCACAGTCACTG	0.353																																						ENST00000409246.1																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(640-642)cCa>cGa		RAD9 homolog B (S. pombe)							161.0	140.0	147.0					12																	110957688		2202	4300	6502	SO:0001583	missense	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110957688C>G		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.650C>G	12.37:g.110957688C>G	ENSP00000386697:p.Pro217Arg					RAD9B_ENST00000392672.4_Missense_Mutation_p.P286R|RAD9B_ENST00000409425.1_Missense_Mutation_p.P214R|RAD9B_ENST00000409300.1_Missense_Mutation_p.P286R|RAD9B_ENST00000409778.3_Missense_Mutation_p.P217R	p.P214R			Q6WBX8	RAD9B_HUMAN			9	966	+			283					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37	c.641C>G		.	.	.	.	.	.	.	.	.	.	C	12.40	1.926652	0.34002	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.24538	1.85;2.2;2.22;1.85;2.15	5.65	4.76	0.60689	.	0.133214	0.48767	D	0.000177	T	0.38532	0.1044	M	0.61703	1.905	0.29592	N	0.848316	D;B;B	0.63880	0.993;0.179;0.179	P;B;B	0.58721	0.844;0.084;0.084	T	0.36480	-0.9746	10	0.48119	T	0.1	-12.2646	7.3389	0.26625	0.2558:0.6638:0.0:0.0803	.	217;286;283	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	R	214;286;286;214;217	ENSP00000387329:P214R;ENSP00000376440:P286R;ENSP00000386434:P286R;ENSP00000386629:P214R;ENSP00000386697:P217R	ENSP00000376440:P286R	P	+	2	0	RAD9B	109442071	0.004000	0.15560	0.670000	0.29842	0.914000	0.54420	0.035000	0.13797	1.383000	0.46405	0.655000	0.94253	CCA		0.353	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442		18	20	0	0	0	1	0	18	20				
OR9A2	135924	broad.mit.edu	37	7	142723368	142723368	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:142723368G>A	ENST00000350513.2	-	1	914	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	284						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(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTAAAGATGAAAGGATTCA	0.438																																						ENST00000350513.2																			0				central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(850-852)ttC>ttT		olfactory receptor, family 9, subfamily A, member 2							84.0	90.0	88.0					7																	142723368		2203	4300	6503	SO:0001819	synonymous_variant	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723368G>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.852C>T	7.37:g.142723368G>A							p.F284F	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	914	-	Melanoma(164;0.059)		284					B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.852C>T	CCDS34767.1																																																																																				0.438	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			32	69	0	0	0	1	0	32	69				
KLHL4	56062	broad.mit.edu	37	X	86772938	86772938	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:86772938C>A	ENST00000373119.4	+	1	187	c.42C>A	c.(40-42)atC>atA	p.I14I	KLHL4_ENST00000373114.4_Silent_p.I14I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	14						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGAAACAGATCCTAAGGCTAC	0.478																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(40-42)atC>atA		kelch-like family member 4							120.0	110.0	113.0					X																	86772938		2203	4300	6503	SO:0001819	synonymous_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86772938C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.42C>A	X.37:g.86772938C>A						KLHL4_ENST00000373114.4_Silent_p.I14I	p.I14I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			1	187	+			14					B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	c.42C>A	CCDS14457.1																																																																																				0.478	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			54	123	1	0	3.28156e-27	1	4.90839e-27	54	123				
CLEC1A	51267	broad.mit.edu	37	12	10223974	10223974	+	Missense_Mutation	SNP	C	C	G	rs568326585		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:10223974C>G	ENST00000315330.4	-	6	863	c.801G>C	c.(799-801)gaG>gaC	p.E267D	CLEC1A_ENST00000457018.2_Missense_Mutation_p.E234D|CLEC1A_ENST00000420265.2_Missense_Mutation_p.E175D	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	267					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CATGGAGGCTCTCTGGCTTCA	0.517																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(799-801)gaG>gaC		C-type lectin domain family 1, member A							177.0	156.0	163.0					12																	10223974		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10223974C>G	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.801G>C	12.37:g.10223974C>G	ENSP00000326407:p.Glu267Asp					CLEC1A_ENST00000457018.2_Missense_Mutation_p.E234D|CLEC1A_ENST00000420265.2_Missense_Mutation_p.E175D	p.E267D	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			6	863	-			267					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.801G>C	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	7.781	0.709543	0.15239	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.01495	4.94;4.94;4.83	5.33	1.34	0.21922	.	0.269437	0.26355	N	0.024847	T	0.01905	0.0060	L	0.49778	1.585	0.09310	N	1	P;P;P	0.49090	0.919;0.734;0.514	B;B;B	0.41202	0.35;0.257;0.072	T	0.50189	-0.8857	10	0.15952	T	0.53	.	8.2741	0.31862	0.0:0.6617:0.0:0.3383	.	175;234;267	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	D	267;234;175	ENSP00000326407:E267D;ENSP00000415048:E234D;ENSP00000417010:E175D	ENSP00000326407:E267D	E	-	3	2	CLEC1A	10115241	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.469000	0.06648	0.221000	0.20879	-0.251000	0.11542	GAG		0.517	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		58	133	0	0	0	1	0	58	133				
FAM98C	147965	broad.mit.edu	37	19	38894075	38894075	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:38894075G>T	ENST00000252530.5	+	2	182	c.163G>T	c.(163-165)Gcc>Tcc	p.A55S	FAM98C_ENST00000343358.7_Missense_Mutation_p.A55S|FAM98C_ENST00000588262.1_Missense_Mutation_p.A55S	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	55										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACGCTGGGCGCCCTCGAGCA	0.766																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(163-165)Gcc>Tcc		family with sequence similarity 98, member C							2.0	3.0	2.0					19																	38894075		1300	3015	4315	SO:0001583	missense	147965							g.chr19:38894075G>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.163G>T	19.37:g.38894075G>T	ENSP00000252530:p.Ala55Ser					FAM98C_ENST00000588262.1_Missense_Mutation_p.A55S|FAM98C_ENST00000343358.7_Missense_Mutation_p.A55S	p.A55S	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	182	+	all_cancers(60;3.95e-06)		55					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.163G>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	g	16.08	3.021598	0.54576	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.39787	1.06;1.06	4.45	3.41	0.39046	.	0.000000	0.34110	N	0.004256	T	0.44787	0.1310	L	0.38838	1.175	0.29738	N	0.837339	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.69654	0.965;0.935;0.962	T	0.32025	-0.9922	10	0.10902	T	0.67	-13.8302	8.2254	0.31566	0.1091:0.0:0.8909:0.0	.	55;55;55	B7ZLI5;Q17RN3-2;Q17RN3	.;.;FA98C_HUMAN	S	55	ENSP00000252530:A55S;ENSP00000340348:A55S	ENSP00000252530:A55S	A	+	1	0	FAM98C	43585915	0.992000	0.36948	0.995000	0.50966	0.981000	0.71138	2.146000	0.42216	1.106000	0.41623	0.550000	0.68814	GCC		0.766	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		5	11	1	0	0.0215528	1	0.0219265	5	11				
ITGAL	3683	broad.mit.edu	37	16	30515495	30515495	+	Splice_Site	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:30515495G>A	ENST00000356798.6	+	18	2325		c.e18-1		ITGAL_ENST00000358164.5_Splice_Site|ITGAL_ENST00000433423.2_Intron|MIR4518_ENST00000580665.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ATCACCCTCAGGTATGTGTTC	0.443																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.e18-1		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						144.0	128.0	133.0					16																	30515495		2197	4300	6497	SO:0001630	splice_region_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30515495G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2146-1G>A	16.37:g.30515495G>A						ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site		NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			18	2325	+								O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	SNP	ENST00000356798.6	37		CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640718	0.67244	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4791	0.67567	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAL	30422996	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	4.606000	0.61126	2.799000	0.96334	0.505000	0.49811	.		0.443	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Intron	33	47	0	0	0	1	0	33	47				
WNT1	7471	broad.mit.edu	37	12	49375180	49375180	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:49375180C>A	ENST00000293549.3	+	4	906	c.870C>A	c.(868-870)gtC>gtA	p.V290V		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	290					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		ACGACCTCGTCTACTTCGAGA	0.697																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(868-870)gtC>gtA		wingless-type MMTV integration site family, member 1							14.0	16.0	15.0					12																	49375180		2185	4253	6438	SO:0001819	synonymous_variant	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49375180C>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.870C>A	12.37:g.49375180C>A							p.V290V	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	4	906	+			290					Q5U0N2	Silent	SNP	ENST00000293549.3	37	c.870C>A	CCDS8776.1																																																																																				0.697	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			3	7	1	0	2.56e-06	1	2.81015e-06	3	7				
GNL3L	54552	broad.mit.edu	37	X	54578402	54578402	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:54578402G>T	ENST00000336470.4	+	12	1315	c.1176G>T	c.(1174-1176)tgG>tgT	p.W392C	GNL3L_ENST00000360845.2_Missense_Mutation_p.W392C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	392					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TAGCTGACTGGGTGAGGTGAG	0.602																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1174-1176)tgG>tgT		guanine nucleotide binding protein-like 3 (nucleolar)-like							35.0	31.0	33.0					X																	54578402		2203	4299	6502	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578402G>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1176G>T	X.37:g.54578402G>T	ENSP00000338573:p.Trp392Cys					GNL3L_ENST00000360845.2_Missense_Mutation_p.W392C	p.W392C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1315	+			392						Missense_Mutation	SNP	ENST00000336470.4	37	c.1176G>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544385	0.65198	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.24538	1.85;1.85	4.24	4.24	0.50183	GTP-binding protein, orthogonal bundle domain (1);	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.82323	2.585	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	T	0.58295	-0.7661	10	0.66056	D	0.02	-18.3537	13.3821	0.60773	0.0:0.0:1.0:0.0	.	392	Q9NVN8	GNL3L_HUMAN	C	392	ENSP00000338573:W392C;ENSP00000354091:W392C	ENSP00000338573:W392C	W	+	3	0	GNL3L	54595127	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.841000	0.92131	2.046000	0.60703	0.529000	0.55759	TGG		0.602	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	14	1	0	2.17888e-05	1	2.34785e-05	10	14				
WNT2B	7482	broad.mit.edu	37	1	113051931	113051931	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:113051931G>T	ENST00000369684.4	+	1	532	c.47G>T	c.(46-48)cGg>cTg	p.R16L	WNT2B_ENST00000369686.5_Intron|WNT2B_ENST00000256640.5_Intron	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	16					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCCGCTTCGGCGCGCCAGC	0.751																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(46-48)cGg>cTg		wingless-type MMTV integration site family, member 2B							5.0	7.0	6.0					1																	113051931		1942	3776	5718	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113051931G>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.47G>T	1.37:g.113051931G>T	ENSP00000358698:p.Arg16Leu					WNT2B_ENST00000256640.5_Intron|WNT2B_ENST00000369686.4_Intron	p.R16L	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	532	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	16					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.47G>T	CCDS847.1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.017925	0.54576	.	.	ENSG00000134245	ENST00000369684	T	0.75154	-0.91	3.92	3.92	0.45320	.	16.547000	0.00567	N	0.000289	T	0.44498	0.1296	N	0.08118	0	0.33230	D	0.555794	B	0.24963	0.115	B	0.14023	0.01	T	0.02226	-1.1192	10	0.62326	D	0.03	.	13.1426	0.59442	0.0:0.0:1.0:0.0	.	16	Q93097	WNT2B_HUMAN	L	16	ENSP00000358698:R16L	ENSP00000358698:R16L	R	+	2	0	WNT2B	112853454	0.998000	0.40836	0.907000	0.35723	0.403000	0.30841	4.152000	0.58111	2.176000	0.68965	0.457000	0.33378	CGG		0.751	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		12	7	1	0	2.80697e-09	1	3.2645e-09	12	7				
DMD	1756	broad.mit.edu	37	X	32328252	32328252	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:32328252C>A	ENST00000357033.4	-	42	6270	c.6064G>T	c.(6064-6066)Gac>Tac	p.D2022Y	DMD_ENST00000378677.2_Missense_Mutation_p.D2018Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2022					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCACAGAGGTCAGGAGCATTG	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6064-6066)Gac>Tac		dystrophin							117.0	95.0	102.0					X																	32328252		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32328252C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6064G>T	X.37:g.32328252C>A	ENSP00000354923:p.Asp2022Tyr					DMD_ENST00000378677.2_Missense_Mutation_p.D2018Y	p.D2022Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			42	6270	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2022					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6064G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048061	0.55110	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.56941	0.43;0.43	6.16	6.16	0.99307	.	0.459562	0.15484	U	0.259952	T	0.50446	0.1616	L	0.29908	0.895	0.80722	D	1	P;B;P;B;B	0.35908	0.471;0.295;0.527;0.371;0.268	B;B;P;B;B	0.44518	0.323;0.266;0.452;0.197;0.358	T	0.51772	-0.8663	10	0.66056	D	0.02	.	12.1125	0.53848	0.0:0.9207:0.0:0.0793	.	2014;2022;2018;681;678	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Y	2014;681;678;2018;2022;2022;1899	ENSP00000367948:D2018Y;ENSP00000354923:D2022Y	ENSP00000354923:D2022Y	D	-	1	0	DMD	32238173	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.219000	0.42899	2.614000	0.88457	0.594000	0.82650	GAC		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		34	55	1	0	4.3181e-19	1	5.90662e-19	34	55				
DMD	1756	broad.mit.edu	37	X	32834631	32834631	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:32834631T>A	ENST00000357033.4	-	6	690	c.484A>T	c.(484-486)Agc>Tgc	p.S162C	DMD_ENST00000378677.2_Missense_Mutation_p.S158C|DMD_ENST00000288447.4_Missense_Mutation_p.S154C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	162	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGACCAGCTGGTGGTGAAG	0.413																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(484-486)Agc>Tgc		dystrophin							148.0	127.0	134.0					X																	32834631		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32834631T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.484A>T	X.37:g.32834631T>A	ENSP00000354923:p.Ser162Cys					DMD_ENST00000378677.2_Missense_Mutation_p.S158C|DMD_ENST00000288447.4_Missense_Mutation_p.S154C	p.S162C	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			6	690	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	162			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.484A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453099	0.63290	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95447	-3.71;-3.71;-3.71	5.51	5.51	0.81932	Calponin homology domain (5);	0.000000	0.44285	U	0.000464	D	0.98018	0.9347	M	0.90759	3.145	0.80722	D	1	B;B;D;B;D	0.89917	0.016;0.067;1.0;0.213;1.0	B;B;D;B;D	0.91635	0.003;0.048;0.998;0.129;0.999	D	0.98979	1.0804	10	0.87932	D	0	.	14.6503	0.68792	0.0:0.0:0.0:1.0	.	162;154;154;162;158	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	C	154;158;162;162;39;154	ENSP00000367948:S158C;ENSP00000354923:S162C;ENSP00000288447:S154C	ENSP00000288447:S154C	S	-	1	0	DMD	32744552	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.282000	0.72639	1.840000	0.53500	0.486000	0.48141	AGC		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		27	77	0	0	0	1	0	27	77				
PLEKHG5	57449	broad.mit.edu	37	1	6528448	6528448	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:6528448G>T	ENST00000400915.3	-	21	2682	c.2616C>A	c.(2614-2616)gaC>gaA	p.D872E	PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D895E|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D816E|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D816E|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.D893E|TNFRSF25_ENST00000351748.3_5'Flank|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D885E|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D816E|TNFRSF25_ENST00000356876.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000377740.3_Intron|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D853E|TNFRSF25_ENST00000351959.5_5'Flank	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	872					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGTAGGCAGAGTCCATGGAGC	0.642																																						ENST00000377748.1																			0				liver(1)	1						c.(2677-2679)gaC>gaA		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							23.0	21.0	22.0					1																	6528448		2200	4299	6499	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6528448G>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2616C>A	1.37:g.6528448G>T	ENSP00000383706:p.Asp872Glu					PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D816E|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.D872E|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D816E|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D885E|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D853E|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D895E|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D816E	p.D893E	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	21	3176	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	872					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.2679C>A	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436721	0.83885	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.78;-0.78;-0.78;-0.77;-0.78;-0.74;-0.8;-0.78;-0.8;-0.74	5.35	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	L	0.32530	0.975	0.46061	D	0.998845	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.994	T	0.78851	-0.2041	10	0.59425	D	0.04	-36.1522	11.7893	0.52059	0.1733:0.0:0.8267:0.0	.	885;816;893;872	F5GZ21;O94827-4;O94827-2;O94827	.;.;.;PKHG5_HUMAN	E	893;816;816;872;853;816;816;885;816;722;895;816	ENSP00000366977:D893E;ENSP00000344570:D816E;ENSP00000383704:D816E;ENSP00000383706:D872E;ENSP00000366961:D853E;ENSP00000366957:D816E;ENSP00000366954:D816E;ENSP00000441445:D885E;ENSP00000366966:D816E;ENSP00000439625:D895E;ENSP00000437710:D816E	ENSP00000344570:D816E	D	-	3	2	PLEKHG5	6451035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.158000	0.42329	1.254000	0.44035	0.563000	0.77884	GAC		0.642	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		6	5	1	0	0.0215528	1	0.0219265	6	5				
PNKP	11284	broad.mit.edu	37	19	50370336	50370336	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:50370336C>A	ENST00000322344.3	-	2	235	c.126G>T	c.(124-126)acG>acT	p.T42T	PNKP_ENST00000596014.1_Silent_p.T42T|PNKP_ENST00000600573.1_Silent_p.T42T|PNKP_ENST00000600910.1_Silent_p.T42T|PNKP_ENST00000595792.1_5'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	42	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		ACTTCCGGTCCGTAACCTGGG	0.677								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(124-126)acG>acT	Other BER factors	polynucleotide kinase 3'-phosphatase							59.0	60.0	59.0					19																	50370336		2203	4300	6503	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370336C>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.126G>T	19.37:g.50370336C>A						PNKP_ENST00000596014.1_Silent_p.T42T|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.T42T|PNKP_ENST00000600573.1_Silent_p.T42T	p.T42T	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	2	235	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	42					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.126G>T	CCDS12783.1																																																																																				0.677	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		30	70	1	0	8.16721e-17	1	1.07538e-16	30	70				
CD207	50489	broad.mit.edu	37	2	71061009	71061009	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:71061009C>T	ENST00000410009.3	-	3	378	c.333G>A	c.(331-333)atG>atA	p.M111I		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	111					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TCTCATTCACCATCTGGATCT	0.478																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(331-333)atG>atA		CD207 molecule, langerin							95.0	88.0	90.0					2																	71061009		2046	4202	6248	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71061009C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.333G>A	2.37:g.71061009C>T	ENSP00000386378:p.Met111Ile						p.M111I	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			3	378	-			111						Missense_Mutation	SNP	ENST00000410009.3	37	c.333G>A		.	.	.	.	.	.	.	.	.	.	C	3.328	-0.137240	0.06711	.	.	ENSG00000116031	ENST00000410009	T	0.28895	1.59	4.23	1.29	0.21616	.	1.394480	0.04219	N	0.333258	T	0.18299	0.0439	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	10	0.29301	T	0.29	.	3.3002	0.06980	0.2038:0.571:0.0:0.2252	.	111	Q9UJ71	CLC4K_HUMAN	I	111	ENSP00000386378:M111I	ENSP00000386378:M111I	M	-	3	0	CD207	70914517	0.003000	0.15002	0.050000	0.19076	0.009000	0.06853	0.218000	0.17622	0.259000	0.21709	0.655000	0.94253	ATG		0.478	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		13	49	0	0	0	1	0	13	49				
USP6	9098	broad.mit.edu	37	17	5076127	5076127	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:5076127G>A	ENST00000574788.1	+	38	6305	c.4075G>A	c.(4075-4077)Gac>Aac	p.D1359N	USP6_ENST00000250066.6_Missense_Mutation_p.D1359N|USP6_ENST00000304328.5_Missense_Mutation_p.D1042N|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1359	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AATTGACACCGACTCTGCCTA	0.428			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(4075-4077)Gac>Aac		ubiquitin specific peptidase 6 (Tre-2 oncogene)							141.0	130.0	134.0					17																	5076127		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5076127G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4075G>A	17.37:g.5076127G>A	ENSP00000460380:p.Asp1359Asn					USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.D1042N|USP6_ENST00000250066.6_Missense_Mutation_p.D1359N	p.D1359N			P35125	UBP6_HUMAN			38	6305	+			1359					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.4075G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696960	0.68386	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.02890	4.12;4.12	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	L	0.40543	1.245	0.54753	D	0.999981	D;D	0.67145	0.996;0.965	P;P	0.55260	0.746;0.772	T	0.39014	-0.9634	10	0.66056	D	0.02	.	10.4068	0.44266	0.0:0.0:1.0:0.0	rs1053620;rs3194199	1042;1359	P35125-2;P35125	.;UBP6_HUMAN	N	1359;1042	ENSP00000250066:D1359N;ENSP00000305473:D1042N	ENSP00000250066:D1359N	D	+	1	0	USP6	5016851	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.474000	0.97718	1.313000	0.45069	0.184000	0.17185	GAC		0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		47	54	0	0	0	1	0	47	54				
TSPEAR	54084	broad.mit.edu	37	21	45924738	45924738	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr21:45924738A>T	ENST00000323084.4	-	11	1846	c.1781T>A	c.(1780-1782)gTg>gAg	p.V594E	TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	594					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ATCTTCTCCCACCGAGAAAAA	0.532																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1780-1782)gTg>gAg		thrombospondin-type laminin G domain and EAR repeats							81.0	76.0	78.0					21																	45924738		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45924738A>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1781T>A	21.37:g.45924738A>T	ENSP00000321987:p.Val594Glu						p.V594E	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			11	1846	-			594						Missense_Mutation	SNP	ENST00000323084.4	37	c.1781T>A	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583606	0.86748	.	.	ENSG00000175894	ENST00000323084;ENST00000397918	D	0.82526	-1.62	4.72	4.72	0.59763	.	0.569584	0.17329	N	0.178192	D	0.90469	0.7015	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.90954	0.4807	10	0.59425	D	0.04	-27.0043	14.5571	0.68109	1.0:0.0:0.0:0.0	.	594	Q8WU66	TSEAR_HUMAN	E	594;447	ENSP00000321987:V594E	ENSP00000321987:V594E	V	-	2	0	TSPEAR	44749166	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	6.363000	0.73082	1.915000	0.55452	0.529000	0.55759	GTG		0.532	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		36	70	0	0	0	1	0	36	70				
CTNND2	1501	broad.mit.edu	37	5	11082866	11082866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:11082866G>T	ENST00000304623.8	-	16	2919	c.2730C>A	c.(2728-2730)tgC>tgA	p.C910*	CTNND2_ENST00000511377.1_Nonsense_Mutation_p.C819*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.C573*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.C852*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.C477*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C910C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCACCGCGCACACCACAC	0.527																																						ENST00000304623.8																			1	Substitution - coding silent(1)	p.C910C(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2728-2730)tgC>tgA		catenin (cadherin-associated protein), delta 2							126.0	110.0	116.0					5																	11082866		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082866G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2730C>A	5.37:g.11082866G>T	ENSP00000307134:p.Cys910*					CTNND2_ENST00000503622.1_Nonsense_Mutation_p.C573*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.C477*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.C819*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.C852*	p.C910*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			16	2919	-			910					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.2730C>A	CCDS3881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.790051|8.790051	0.98954|0.98954	.|.	.|.	ENSG00000169862|ENSG00000169862	ENST00000538638|ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.|.	.|.	.|.	5.04|5.04	-4.39|-4.39	0.03611|0.03611	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.45353	.|T	.|0.12	.|-15.6584	15.4712|15.4712	0.75441|0.75441	0.8735:0.0:0.1265:0.0|0.8735:0.0:0.1265:0.0	.|.	.|.	.|.	.|.	.|X	-1|910;852;819;477;573	.|.	.|ENSP00000307134:C910X	.|C	-|-	.|3	.|2	CTNND2|CTNND2	11135866|11135866	0.003000|0.003000	0.15002|0.15002	0.793000|0.793000	0.32043|0.32043	0.958000|0.958000	0.62258|0.62258	-0.963000|-0.963000	0.03837|0.03837	-0.659000|-0.659000	0.05359|0.05359	-0.253000|-0.253000	0.11424|0.11424	.|TGC		0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		26	71	1	0	1.33986e-20	1	1.88151e-20	26	71				
KNTC1	9735	broad.mit.edu	37	12	123087383	123087383	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:123087383A>G	ENST00000333479.7	+	47	5010	c.4833A>G	c.(4831-4833)gaA>gaG	p.E1611E	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.E36E|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1611					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TAGCTACAGAACTCAGTGAAG	0.303																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4831-4833)gaA>gaG		kinetochore associated 1							147.0	135.0	138.0					12																	123087383		1818	4075	5893	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123087383A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4833A>G	12.37:g.123087383A>G						KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.E36E|KNTC1_ENST00000436959.3_5'UTR	p.E1611E	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	47	5010	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1611					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.4833A>G	CCDS45002.1																																																																																				0.303	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			21	56	0	0	0	1	0	21	56				
DNAH10	196385	broad.mit.edu	37	12	124335521	124335521	+	Silent	SNP	C	C	A	rs201453347		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:124335521C>A	ENST00000409039.3	+	34	5860	c.5835C>A	c.(5833-5835)ccC>ccA	p.P1945P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1945	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGAGCTGCCCGAGTCGGTGA	0.607																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5833-5835)ccC>ccA		dynein, axonemal, heavy chain 10							40.0	45.0	43.0					12																	124335521		2149	4286	6435	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124335521C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5835C>A	12.37:g.124335521C>A							p.P1945P	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	34	5860	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1945			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5835C>A	CCDS9255.2																																																																																				0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			20	46	1	0	7.45023e-12	1	9.19093e-12	20	46				
TRIM60	166655	broad.mit.edu	37	4	165961346	165961346	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:165961346G>A	ENST00000512596.1	+	3	338	c.122G>A	c.(121-123)aGt>aAt	p.S41N	TRIM60_ENST00000508504.1_Missense_Mutation_p.S41N|TRIM60_ENST00000341062.5_Missense_Mutation_p.S41N	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	41						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCCTGCCTCAGTGTATCCTGG	0.507																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(121-123)aGt>aAt		tripartite motif containing 60							163.0	143.0	150.0					4																	165961346		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165961346G>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.122G>A	4.37:g.165961346G>A	ENSP00000421142:p.Ser41Asn					TRIM60_ENST00000341062.5_Missense_Mutation_p.S41N|TRIM60_ENST00000508504.1_Missense_Mutation_p.S41N	p.S41N	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	338	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	41					Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.122G>A	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	a	4.155	0.027221	0.08054	.	.	ENSG00000176979	ENST00000512596;ENST00000507119;ENST00000508504;ENST00000341062	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	2.34	-2.06	0.07298	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.744330	0.04070	N	0.307908	T	0.07007	0.0178	L	0.35341	1.055	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43589	-0.9382	10	0.11794	T	0.64	.	9.333	0.38034	0.4311:0.0:0.5689:0.0	.	41	Q495X7	TRI60_HUMAN	N	41	ENSP00000421142:S41N;ENSP00000421784:S41N;ENSP00000426496:S41N;ENSP00000343765:S41N	ENSP00000343765:S41N	S	+	2	0	TRIM60	166180796	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	-3.807000	0.00361	-1.012000	0.03387	-0.834000	0.03071	AGT		0.507	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		38	79	0	0	0	1	0	38	79				
TREX2	11219	broad.mit.edu	37	X	152710874	152710874	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:152710874G>T	ENST00000334497.2	-	11	1285	c.144C>A	c.(142-144)ccC>ccA	p.P48P	TREX2_ENST00000370231.2_Silent_p.P5P|TREX2_ENST00000414588.1_Silent_p.P47P|TREX2_ENST00000330912.2_Silent_p.P5P|TREX2_ENST00000402951.1_Silent_p.P48P|TREX2_ENST00000370232.1_Silent_p.P48P|TREX2_ENST00000393862.2_Silent_p.P5P|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000338525.2_Silent_p.P5P			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	48					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGGCCCGGGGTGCCTCGG	0.627								Editing and processing nucleases																														ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(13-15)ccC>ccA	Editing and processing nucleases	three prime repair exonuclease 2							14.0	16.0	15.0					X																	152710874		2137	4184	6321	SO:0001819	synonymous_variant	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710874G>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.144C>A	X.37:g.152710874G>T						TREX2_ENST00000334497.2_Silent_p.P48P|TREX2_ENST00000370231.2_Silent_p.P5P|TREX2_ENST00000402951.1_Silent_p.P48P|TREX2_ENST00000338525.2_Silent_p.P5P|TREX2_ENST00000414588.1_Silent_p.P47P|TREX2_ENST00000370232.1_Silent_p.P48P|TREX2_ENST00000393862.2_Silent_p.P5P	p.P5P			Q9BQ50	TREX2_HUMAN			13	1565	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		48					Q45F08|Q9UN77	Silent	SNP	ENST00000334497.2	37	c.15C>A																																																																																					0.627	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		6	7	1	0	2.7689e-08	1	3.16445e-08	6	7				
LAMB2	3913	broad.mit.edu	37	3	49158710	49158710	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:49158710G>A	ENST00000418109.1	-	33	5510	c.5346C>T	c.(5344-5346)agC>agT	p.S1782S	USP19_ENST00000453664.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Silent_p.S1782S|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1782	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTGAAGCACGCTGCGCATCC	0.577																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(5344-5346)agC>agT		laminin, beta 2 (laminin S)							114.0	94.0	101.0					3																	49158710		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49158710G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.5346C>T	3.37:g.49158710G>A						LAMB2_ENST00000305544.4_Silent_p.S1782S	p.S1782S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	33	5510	-			1782			Domain I.		Q16321	Silent	SNP	ENST00000418109.1	37	c.5346C>T	CCDS2789.1																																																																																				0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		3	37	0	0	0	1	0	3	37				
GIGYF2	26058	broad.mit.edu	37	2	233675972	233675972	+	Silent	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:233675972T>C	ENST00000409547.1	+	19	2228	c.1917T>C	c.(1915-1917)gtT>gtC	p.V639V	GIGYF2_ENST00000409196.3_Silent_p.V633V|GIGYF2_ENST00000452341.2_Silent_p.V470V|GIGYF2_ENST00000409480.1_Silent_p.V661V|GIGYF2_ENST00000373566.3_Silent_p.V661V|GIGYF2_ENST00000409451.3_Silent_p.V660V|GIGYF2_ENST00000373563.4_Silent_p.V639V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	639	Gln-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)		ATGCACAGGTTTTGGCCCAAC	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.(1981-1983)gtT>gtC		GRB10 interacting GYF protein 2							128.0	114.0	119.0					2																	233675972		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233675972T>C	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.1917T>C	2.37:g.233675972T>C						GIGYF2_ENST00000409196.3_Silent_p.V633V|GIGYF2_ENST00000452341.2_Silent_p.V470V|GIGYF2_ENST00000373563.4_Silent_p.V639V|GIGYF2_ENST00000409451.3_Silent_p.V660V|GIGYF2_ENST00000409547.1_Silent_p.V639V|GIGYF2_ENST00000409480.1_Silent_p.V661V	p.V661V			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)	18	2180	+		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)	639			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.1983T>C	CCDS33401.1																																																																																				0.423	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		13	39	0	0	0	1	0	13	39				
FAM114A1	92689	broad.mit.edu	37	4	38907400	38907400	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:38907400G>T	ENST00000358869.2	+	6	751	c.575G>T	c.(574-576)gGc>gTc	p.G192V	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	192						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACAGATCAGGGCCCTGCAGAA	0.488																																						ENST00000358869.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(574-576)gGc>gTc		family with sequence similarity 114, member A1							55.0	52.0	53.0					4																	38907400		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38907400G>T		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.575G>T	4.37:g.38907400G>T	ENSP00000351740:p.Gly192Val					FAM114A1_ENST00000515037.1_5'UTR	p.G192V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN			6	751	+			192					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.575G>T	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691844	0.30052	.	.	ENSG00000197712	ENST00000358869	T	0.52983	0.64	5.38	4.48	0.54585	.	0.346259	0.33057	N	0.005325	T	0.36690	0.0976	L	0.38175	1.15	0.49798	D	0.999825	P	0.44877	0.845	B	0.42959	0.403	T	0.12016	-1.0564	10	0.35671	T	0.21	-0.3789	6.9266	0.24418	0.2271:0.0:0.7729:0.0	.	192	Q8IWE2	NXP20_HUMAN	V	192	ENSP00000351740:G192V	ENSP00000351740:G192V	G	+	2	0	FAM114A1	38583795	0.169000	0.23002	0.977000	0.42913	0.440000	0.31957	0.345000	0.19979	1.283000	0.44513	0.655000	0.94253	GGC		0.488	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		29	58	1	0	9.78485e-24	1	1.43511e-23	29	58				
MUC16	94025	broad.mit.edu	37	19	8976318	8976318	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:8976318G>T	ENST00000397910.4	-	75	42713	c.42510C>A	c.(42508-42510)acC>acA	p.T14170T	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Silent_p.T811T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14201	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACACCATGGGTCAGCTGAC	0.572																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42508-42510)acC>acA		mucin 16, cell surface associated							53.0	51.0	51.0					19																	8976318		2002	4166	6168	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976318G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42510C>A	19.37:g.8976318G>T						MUC16_ENST00000380951.5_Silent_p.T811T|MUC16_ENST00000596956.1_Intron	p.T14170T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			75	42713	-			14201	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.42510C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.046	-1.267563	0.01433	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.07	0.794	0.18638	.	.	.	.	.	T	0.37489	0.1005	.	.	.	.	.	.	.	.	.	.	.	.	T	0.43750	-0.9372	3	.	.	.	.	5.8372	0.18613	0.3405:0.0:0.6595:0.0	.	.	.	.	H	993	.	.	P	-	2	0	MUC16	8837318	0.000000	0.05858	0.927000	0.36925	0.008000	0.06430	-1.301000	0.02749	0.495000	0.27882	-0.251000	0.11542	CCC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	11	1	0	3.99206e-14	1	5.14099e-14	16	11				
KIF16B	55614	broad.mit.edu	37	20	16474977	16474977	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:16474977C>T	ENST00000354981.2	-	12	1418	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.E421K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E421K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	421					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTGTCCATTCCTTGGTCAAT	0.299																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1261-1263)Gaa>Aaa		kinesin family member 16B							98.0	87.0	90.0					20																	16474977		2199	4296	6495	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16474977C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1261G>A	20.37:g.16474977C>T	ENSP00000347076:p.Glu421Lys					KIF16B_ENST00000408042.1_Missense_Mutation_p.E421K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.E421K	p.E421K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			12	1418	-			421					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1261G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767693	0.90020	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.71222	-0.55;-0.54;-0.55	5.42	5.42	0.78866	.	0.050376	0.85682	D	0.000000	T	0.75576	0.3868	L	0.46157	1.445	0.80722	D	1	P;P;P;P	0.42375	0.778;0.778;0.778;0.671	P;P;P;B	0.49799	0.622;0.622;0.622;0.418	T	0.76645	-0.2883	10	0.62326	D	0.03	.	19.5942	0.95527	0.0:1.0:0.0:0.0	.	421;421;421;421	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	421	ENSP00000347076:E421K;ENSP00000347995:E421K;ENSP00000384164:E421K	ENSP00000347076:E421K	E	-	1	0	KIF16B	16422977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.689000	0.74562	2.707000	0.92482	0.650000	0.86243	GAA		0.299	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	31	0	0	0	1	0	6	31				
CSMD2	114784	broad.mit.edu	37	1	34164384	34164384	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:34164384C>T	ENST00000373380.1	-	3	733	c.513G>A	c.(511-513)cgG>cgA	p.R171R	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.R1298R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1258	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCCCAGGTCCGGCGCTCTC	0.597																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3892-3894)cgG>cgA		CUB and Sushi multiple domains 2							69.0	69.0	69.0					1																	34164384		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164384C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.513G>A	1.37:g.34164384C>T						CSMD2_ENST00000373380.1_Silent_p.R171R|CSMD2_ENST00000373388.2_5'UTR	p.R1298R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			24	4070	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1258			CUB 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.3894G>A																																																																																					0.597	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		28	55	0	0	0	1	0	28	55				
OR5AC2	81050	broad.mit.edu	37	3	97806221	97806221	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:97806221G>T	ENST00000358642.2	+	1	205	c.205G>T	c.(205-207)Gcc>Tcc	p.A69S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	69					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)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGGTGGTTTAGCCTTTTCAGA	0.448																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(205-207)Gcc>Tcc		olfactory receptor, family 5, subfamily AC, member 2							273.0	257.0	263.0					3																	97806221		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806221G>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.205G>T	3.37:g.97806221G>T	ENSP00000351466:p.Ala69Ser						p.A69S	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	205	+			69						Missense_Mutation	SNP	ENST00000358642.2	37	c.205G>T	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099720	0.37048	.	.	ENSG00000196578	ENST00000358642	T	0.01043	5.41	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	U	0.002495	T	0.01320	0.0043	N	0.02658	-0.545	0.22412	N	0.999128	D	0.89917	1.0	D	0.91635	0.999	T	0.56998	-0.7886	10	0.02654	T	1	-28.1711	11.6742	0.51419	0.0:0.0:0.8229:0.1771	.	69	Q9NZP5	O5AC2_HUMAN	S	69	ENSP00000351466:A69S	ENSP00000351466:A69S	A	+	1	0	OR5AC2	99288911	0.000000	0.05858	0.336000	0.25522	0.907000	0.53573	0.283000	0.18846	2.522000	0.85027	0.590000	0.80494	GCC		0.448	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			101	128	1	0	9.47431e-33	1	1.44579e-32	101	128				
MDN1	23195	broad.mit.edu	37	6	90438741	90438741	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:90438741C>A	ENST00000369393.3	-	36	5373	c.5258G>T	c.(5257-5259)gGt>gTt	p.G1753V	MDN1_ENST00000428876.1_Missense_Mutation_p.G1753V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1753					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCAGGGGAACCCTCCAGGAG	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5257-5259)gGt>gTt		MDN1, midasin homolog (yeast)							111.0	97.0	102.0					6																	90438741		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90438741C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5258G>T	6.37:g.90438741C>A	ENSP00000358400:p.Gly1753Val					MDN1_ENST00000428876.1_Missense_Mutation_p.G1753V	p.G1753V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	36	5373	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1753					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5258G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976290	0.74360	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	D;D	0.96885	-4.16;-4.16	5.75	5.75	0.90469	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.052219	0.85682	D	0.000000	D	0.99339	0.9768	H	0.99890	4.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98342	1.0539	10	0.87932	D	0	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	1753	Q9NU22	MDN1_HUMAN	V	1753	ENSP00000358400:G1753V;ENSP00000413970:G1753V	ENSP00000358400:G1753V	G	-	2	0	MDN1	90495462	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.792000	0.85828	2.712000	0.92718	0.591000	0.81541	GGT		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			27	62	1	0	1.06801e-11	1	1.31448e-11	27	62				
CHST2	9435	broad.mit.edu	37	3	142840322	142840322	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:142840322G>A	ENST00000309575.3	+	2	2048	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	222					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CATGCTGAGCGCTCTTTACCG	0.627																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(664-666)Gct>Act		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							49.0	59.0	56.0					3																	142840322		2200	4291	6491	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840322G>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.664G>A	3.37:g.142840322G>A	ENSP00000307911:p.Ala222Thr						p.A222T	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2048	+			222					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.664G>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348325	0.61183	.	.	ENSG00000175040	ENST00000309575	D	0.82081	-1.57	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.076674	0.52532	D	0.000071	T	0.74405	0.3712	L	0.35854	1.095	0.44018	D	0.996738	P	0.42973	0.796	B	0.38106	0.265	T	0.76814	-0.2820	10	0.48119	T	0.1	-16.4862	12.2381	0.54526	0.0:0.0:0.7849:0.215	.	222	Q9Y4C5	CHST2_HUMAN	T	222	ENSP00000307911:A222T	ENSP00000307911:A222T	A	+	1	0	CHST2	144323012	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.235000	0.32671	2.295000	0.77249	0.407000	0.27541	GCT		0.627	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		28	53	0	0	0	1	0	28	53				
MGAT4A	11320	broad.mit.edu	37	2	99256616	99256616	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:99256616A>T	ENST00000264968.3	-	10	1459	c.1096T>A	c.(1096-1098)Tca>Aca	p.S366T	MGAT4A_ENST00000393487.1_Missense_Mutation_p.S366T|MGAT4A_ENST00000414521.2_Missense_Mutation_p.S238T|MGAT4A_ENST00000409391.1_Missense_Mutation_p.S366T			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	366					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GATAGTGATGAGTGCAGACCA	0.313																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(1096-1098)Tca>Aca		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							107.0	114.0	111.0					2																	99256616		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99256616A>T	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1096T>A	2.37:g.99256616A>T	ENSP00000264968:p.Ser366Thr					MGAT4A_ENST00000409391.1_Missense_Mutation_p.S366T|MGAT4A_ENST00000414521.2_Missense_Mutation_p.S238T|MGAT4A_ENST00000264968.2_Missense_Mutation_p.S366T	p.S366T	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			11	1409	-			366					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.1096T>A	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710281	0.89018	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.88979	2.995	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.81914	0.995;0.987	D	0.85751	0.1343	10	0.87932	D	0	-2.9753	15.0303	0.71701	1.0:0.0:0.0:0.0	.	238;366	E9PEN2;Q9UM21	.;MGT4A_HUMAN	T	366;238;366;366	ENSP00000377127:S366T;ENSP00000404889:S238T;ENSP00000264968:S366T;ENSP00000386841:S366T	ENSP00000264968:S366T	S	-	1	0	MGAT4A	98623048	1.000000	0.71417	0.959000	0.39883	0.942000	0.58702	9.141000	0.94612	2.145000	0.66743	0.455000	0.32223	TCA		0.313	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		13	39	0	0	0	1	0	13	39				
HSH2D	84941	broad.mit.edu	37	19	16259679	16259679	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:16259679C>A	ENST00000253680.6	+	4	650	c.119C>A	c.(118-120)tCa>tAa	p.S40*	HSH2D_ENST00000593154.2_Nonsense_Mutation_p.S40*|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.S40*			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	40	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GGTGCAATCTCAAGAGAGTGA	0.612																																						ENST00000593154.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(118-120)tCa>tAa		hematopoietic SH2 domain containing							50.0	56.0	54.0					19																	16259679		1984	4133	6117	SO:0001587	stop_gained	84941					cytoplasm|nucleus		g.chr19:16259679C>A	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.119C>A	19.37:g.16259679C>A	ENSP00000253680:p.Ser40*					HSH2D_ENST00000253680.6_Nonsense_Mutation_p.S40*|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.S40*|HSH2D_ENST00000397372.4_Intron	p.S40*	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN			4	650	+			40			SH2.		B5ME72|Q6ZNG7	Nonsense_Mutation	SNP	ENST00000253680.6	37	c.119C>A		.	.	.	.	.	.	.	.	.	.	C	41	9.094755	0.99064	.	.	ENSG00000196684	ENST00000253680	.	.	.	4.7	4.7	0.59300	.	0.210963	0.30068	N	0.010488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0293	0.58833	0.0:1.0:0.0:0.0	.	.	.	.	X	40	.	ENSP00000253680:S40X	S	+	2	0	HSH2D	16120679	0.994000	0.37717	0.933000	0.37362	0.948000	0.59901	4.203000	0.58453	2.424000	0.82194	0.655000	0.94253	TCA		0.612	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		56	60	1	0	9.53978e-28	1	1.43097e-27	56	60				
PHACTR4	65979	broad.mit.edu	37	1	28815703	28815703	+	Silent	SNP	A	A	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:28815703A>C	ENST00000373839.3	+	10	2043	c.1782A>C	c.(1780-1782)acA>acC	p.T594T	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.T604T	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	594					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.T604T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGACCAACACCAGAAGAAC	0.308																																						ENST00000373839.3																			1	Substitution - coding silent(1)	p.T604T(1)	lung(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1780-1782)acA>acC		phosphatase and actin regulator 4							100.0	94.0	96.0					1																	28815703		1835	4088	5923	SO:0001819	synonymous_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28815703A>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1782A>C	1.37:g.28815703A>C						PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.T604T	p.T594T	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	10	2043	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	594					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	c.1782A>C	CCDS41293.1																																																																																				0.308	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		9	36	0	0	0	1	0	9	36				
C7orf66	154907	broad.mit.edu	37	7	108524212	108524212	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:108524212G>A	ENST00000379007.2	-	2	254	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	67						integral component of membrane (GO:0016021)		p.S67*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						ATATTGAGCTGAGAATTCCTC	0.423																																						ENST00000379007.2																			1	Substitution - Nonsense(1)	p.S67*(1)	lung(1)	breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(199-201)tCa>tTa		chromosome 7 open reading frame 66							187.0	159.0	168.0					7																	108524212		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524212G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.200C>T	7.37:g.108524212G>A	ENSP00000368292:p.Ser67Leu						p.S67L	NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN			2	254	-			67						Missense_Mutation	SNP	ENST00000379007.2	37	c.200C>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628183	0.28978	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.87	2.03	0.26663	.	.	.	.	.	T	0.31104	0.0786	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.66351	0.943	T	0.10613	-1.0622	7	.	.	.	.	5.4539	0.16580	0.1121:0.2039:0.684:0.0	.	67	A4D0T2	CG066_HUMAN	L	67	.	.	S	-	2	0	C7orf66	108311448	0.299000	0.24426	0.004000	0.12327	0.174000	0.22865	0.586000	0.23894	0.576000	0.29452	0.563000	0.77884	TCA		0.423	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		41	102	0	0	0	1	0	41	102				
LRR1	122769	broad.mit.edu	37	14	50069115	50069115	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:50069115A>T	ENST00000298288.6	+	2	535	c.211A>T	c.(211-213)Acc>Tcc	p.T71S	LRR1_ENST00000318317.4_Missense_Mutation_p.T71S|LRR1_ENST00000557531.1_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	71					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAATTCTTCACCAAATTTGT	0.323																																						ENST00000298288.6																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(211-213)Acc>Tcc		leucine rich repeat protein 1							113.0	113.0	113.0					14																	50069115		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50069115A>T	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.211A>T	14.37:g.50069115A>T	ENSP00000298288:p.Thr71Ser					LRR1_ENST00000557531.1_Intron|LRR1_ENST00000318317.4_Missense_Mutation_p.T71S	p.T71S	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN			2	535	+			71					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.211A>T	CCDS9686.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732422	0.89482	.	.	ENSG00000165501	ENST00000298288;ENST00000361579;ENST00000318317	T	0.46063	0.88	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.72118	2.19	0.80722	D	1	D;P;D	0.76494	0.997;0.82;0.999	D;P;D	0.78314	0.985;0.469;0.991	T	0.61078	-0.7135	10	0.33141	T	0.24	-12.1041	16.2053	0.82122	1.0:0.0:0.0:0.0	.	71;71;71	A8MSW2;Q96L50-2;Q96L50	.;.;LLR1_HUMAN	S	71	ENSP00000298288:T71S	ENSP00000298288:T71S	T	+	1	0	LRR1	49138865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.682000	0.91232	2.310000	0.77875	0.449000	0.29647	ACC		0.323	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		35	77	0	0	0	1	0	35	77				
FPGT	8790	broad.mit.edu	37	1	74671308	74671308	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:74671308G>T	ENST00000609362.1	+	4	1614	c.1577G>T	c.(1576-1578)cGc>cTc	p.R526L	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.R539L|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.R272L|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	526					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.R526H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGGACTGCACGCATTTTCCCA	0.388																																						ENST00000370898.2																			1	Substitution - Missense(1)	p.R526H(1)	prostate(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1576-1578)cGc>cTc		fucose-1-phosphate guanylyltransferase							168.0	153.0	158.0					1																	74671308		2203	4300	6503	SO:0001583	missense	8790							g.chr1:74671308G>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1577G>T	1.37:g.74671308G>T	ENSP00000476680:p.Arg526Leu					FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.R272L|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.4_3'UTR	p.R526L	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2					4	1614	+								A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.1577G>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156587	0.57259	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.37235	1.21;1.21	5.1	5.1	0.69264	L-fucokinase (1);	.	.	.	.	T	0.41926	0.1180	M	0.68317	2.08	0.80722	D	1	P;D;P	0.69078	0.951;0.997;0.781	P;P;P	0.60012	0.788;0.867;0.489	T	0.27872	-1.0061	9	0.38643	T	0.18	.	11.9468	0.52932	0.0797:0.0:0.9203:0.0	.	272;151;526	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	L	526;272	ENSP00000359935:R526L;ENSP00000432819:R272L	ENSP00000359935:R526L	R	+	2	0	TNNI3K	74443896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.399000	0.73248	2.351000	0.79841	0.563000	0.77884	CGC		0.388	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	69	1	0	4.31634e-10	1	5.12141e-10	32	69				
ITPKC	80271	broad.mit.edu	37	19	41223227	41223227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:41223227G>T	ENST00000263370.2	+	1	220	c.187G>T	c.(187-189)Gag>Tag	p.E63*	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000243583.6_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	63					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ggcccggACAGAGGGGTCCAG	0.776																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(187-189)Gag>Tag		inositol-trisphosphate 3-kinase C							4.0	5.0	5.0					19																	41223227		1864	3796	5660	SO:0001587	stop_gained	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223227G>T	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.187G>T	19.37:g.41223227G>T	ENSP00000263370:p.Glu63*						p.E63*	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	220	+			63					Q9UE25|Q9Y475	Nonsense_Mutation	SNP	ENST00000263370.2	37	c.187G>T	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163984	0.57476	.	.	ENSG00000086544	ENST00000263370	.	.	.	4.09	2.97	0.34412	.	0.650838	0.13574	N	0.377866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.5227	8.769	0.34719	0.1287:0.0:0.8713:0.0	.	.	.	.	X	63	.	ENSP00000263370:E63X	E	+	1	0	ITPKC	45915067	0.831000	0.29352	0.041000	0.18516	0.100000	0.18952	1.579000	0.36536	0.938000	0.37419	0.484000	0.47621	GAG		0.776	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		5	12	1	0	0.014758	1	0.0151305	5	12				
CDH11	1009	broad.mit.edu	37	16	65006894	65006894	+	Missense_Mutation	SNP	G	G	T	rs569933889		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:65006894G>T	ENST00000268603.4	-	9	1918	c.1303C>A	c.(1303-1305)Cca>Aca	p.P435T	CDH11_ENST00000566827.1_Missense_Mutation_p.P309T|CDH11_ENST00000394156.3_Missense_Mutation_p.P435T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCATCCTCTGGATTAATAGTG	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1303-1305)Cca>Aca		cadherin 11, type 2, OB-cadherin (osteoblast)							87.0	89.0	89.0					16																	65006894		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65006894G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1303C>A	16.37:g.65006894G>T	ENSP00000268603:p.Pro435Thr	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.P309T|CDH11_ENST00000268603.4_Missense_Mutation_p.P435T	p.P435T			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	9	1756	-		Ovarian(137;0.0973)	435			Cadherin 4.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1303C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010015	0.35415	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01613	4.73;4.73	5.14	3.17	0.36434	Cadherin (4);Cadherin-like (1);	0.429430	0.26567	N	0.023652	T	0.03178	0.0093	M	0.69463	2.115	0.43841	D	0.996426	B;B	0.23249	0.082;0.032	B;B	0.28011	0.085;0.063	T	0.39440	-0.9614	10	0.46703	T	0.11	.	9.5819	0.39493	0.0773:0.2858:0.637:0.0	.	435;435	P55287-2;P55287	.;CAD11_HUMAN	T	435;435;418	ENSP00000268603:P435T;ENSP00000377711:P435T	ENSP00000268603:P435T	P	-	1	0	CDH11	63564395	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.369000	0.34227	0.680000	0.31366	-0.140000	0.14226	CCA		0.413	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		29	11	1	0	4.59853e-10	1	5.444e-10	29	11				
FAM19A5	25817	broad.mit.edu	37	22	49042466	49042466	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:49042466C>T	ENST00000402357.1	+	2	303	c.170C>T	c.(169-171)cCt>cTt	p.P57L	FAM19A5_ENST00000358295.5_Missense_Mutation_p.P50L|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	57						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AGCAGCCAGCCTCGGAGGACG	0.672																																						ENST00000358295.5																			0				large_intestine(1)|lung(6)	7						c.(148-150)cCt>cTt		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							26.0	33.0	31.0					22																	49042466		2083	4221	6304	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042466C>T	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.170C>T	22.37:g.49042466C>T	ENSP00000383933:p.Pro57Leu					FAM19A5_ENST00000402357.1_Missense_Mutation_p.P57L|FAM19A5_ENST00000473898.1_Intron	p.P50L	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	324	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	57					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.149C>T	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086990	0.94100	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.77565	0.4149	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.961;0.997	T	0.79918	-0.1600	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	50;57	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	L	57;57;50	.	ENSP00000336812:P57L	P	+	2	0	FAM19A5	47428902	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	CCT		0.672	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		14	40	0	0	0	1	0	14	40				
DSCAML1	57453	broad.mit.edu	37	11	117299172	117299172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:117299172G>A	ENST00000321322.6	-	33	6215	c.6214C>T	c.(6214-6216)Cga>Tga	p.R2072*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.R1802*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2012					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCCCCGGCTCGTGGAGGCTCG	0.751																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(6214-6216)Cga>Tga		Down syndrome cell adhesion molecule like 1							10.0	12.0	11.0					11																	117299172		1925	4058	5983	SO:0001587	stop_gained	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117299172G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6214C>T	11.37:g.117299172G>A	ENSP00000315465:p.Arg2072*					DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.R1802*	p.R2072*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	33	6215	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	2012					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.6214C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	41	8.744158	0.98937	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.8	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0562	0.42246	0.0:0.0:0.6344:0.3656	.	.	.	.	X	1802;2072;1779	.	ENSP00000315465:R2072X	R	-	1	2	DSCAML1	116804382	0.085000	0.21516	0.852000	0.33557	0.362000	0.29581	0.669000	0.25142	0.416000	0.25844	0.313000	0.20887	CGA		0.751	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		27	15	0	0	0	1	0	27	15				
PLAC1	10761	broad.mit.edu	37	X	133700553	133700553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:133700553C>A	ENST00000359237.4	-	3	445	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AAGTGTAGTTCATGAAAGTGT	0.507																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(160-162)Gaa>Taa		placenta-specific 1							233.0	200.0	211.0					X																	133700553		2203	4300	6503	SO:0001587	stop_gained	10761				placenta development	extracellular region		g.chrX:133700553C>A	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.160G>T	X.37:g.133700553C>A	ENSP00000352173:p.Glu54*					PLAC1_ENST00000476971.1_5'UTR	p.E54*	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	445	-	Acute lymphoblastic leukemia(192;0.000127)		54						Nonsense_Mutation	SNP	ENST00000359237.4	37	c.160G>T	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022382	0.35701	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.35	4.35	0.52113	.	0.000000	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.792	11.2177	0.48835	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000352173:E54X	E	-	1	0	PLAC1	133528219	0.998000	0.40836	0.204000	0.23530	0.114000	0.19823	1.660000	0.37397	2.417000	0.82017	0.600000	0.82982	GAA		0.507	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		47	120	1	0	8.86878e-18	1	1.19153e-17	47	120				
NRG3	10718	broad.mit.edu	37	10	84733566	84733566	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:84733566C>A	ENST00000404547.1	+	7	1307	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	NRG3_ENST00000372141.2_Missense_Mutation_p.P436H|NRG3_ENST00000404576.2_Missense_Mutation_p.P240H|NRG3_ENST00000372142.2_Missense_Mutation_p.P215H|NRG3_ENST00000545131.1_Missense_Mutation_p.P86H|NRG3_ENST00000556918.1_Missense_Mutation_p.P266H|NRG3_ENST00000537893.1_Missense_Mutation_p.P86H			P56975	NRG3_HUMAN	neuregulin 3	436					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAAGGCATCCTGTGACTGCA	0.483																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(643-645)cCt>cAt		neuregulin 3							134.0	118.0	124.0					10																	84733566		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733566C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1307C>A	10.37:g.84733566C>A	ENSP00000384796:p.Pro436His					NRG3_ENST00000404547.1_Missense_Mutation_p.P436H|NRG3_ENST00000556918.1_Missense_Mutation_p.P266H|NRG3_ENST00000545131.1_Missense_Mutation_p.P86H|NRG3_ENST00000404576.2_Missense_Mutation_p.P240H|NRG3_ENST00000372141.2_Missense_Mutation_p.P436H|NRG3_ENST00000537893.1_Missense_Mutation_p.P86H	p.P215H	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	918	+			436			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.644C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653494	0.88056	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54479	1.45;1.42;0.57;0.57;0.57;0.57;0.57	5.95	5.95	0.96441	.	0.110794	0.40302	N	0.001135	T	0.67439	0.2893	L	0.50333	1.59	0.40202	D	0.977527	D;P;D;D	0.76494	0.99;0.911;0.999;0.99	P;P;D;P	0.65874	0.81;0.66;0.939;0.81	T	0.67956	-0.5536	10	0.62326	D	0.03	-26.2482	17.875	0.88822	0.0:1.0:0.0:0.0	.	435;436;215;436	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	H	436;436;435;215;240;266;86;86	ENSP00000361214:P436H;ENSP00000384796:P436H;ENSP00000361215:P215H;ENSP00000385804:P240H;ENSP00000451376:P266H;ENSP00000441201:P86H;ENSP00000440377:P86H	ENSP00000361214:P436H	P	+	2	0	NRG3	84723546	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	3.392000	0.52537	2.821000	0.97095	0.650000	0.86243	CCT		0.483	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		29	53	1	0	6.00712e-18	1	8.11192e-18	29	53				
ITGA4	3676	broad.mit.edu	37	2	182322446	182322446	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:182322446T>C	ENST00000397033.2	+	1	495	c.65T>C	c.(64-66)cTg>cCg	p.L22P	ITGA4_ENST00000339307.4_Missense_Mutation_p.L22P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	22					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ACGGTGATGCTGTTGCTGTGC	0.672																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(64-66)cTg>cCg		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						16.0	22.0	20.0					2																	182322446		1954	4132	6086	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182322446T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.65T>C	2.37:g.182322446T>C	ENSP00000380227:p.Leu22Pro					ITGA4_ENST00000339307.4_Missense_Mutation_p.L22P	p.L22P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		1	495	+			22					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.65T>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929195	0.52759	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	D;D;D	0.93133	-2.31;-3.17;-3.17	4.5	4.5	0.54988	.	0.826562	0.10673	N	0.647289	D	0.94291	0.8166	M	0.71581	2.175	0.53688	D	0.999976	D;D;B	0.53885	0.963;0.963;0.017	P;P;B	0.50490	0.642;0.642;0.03	D	0.92831	0.6280	10	0.87932	D	0	.	11.4377	0.50078	0.0:0.0:0.0:1.0	.	22;22;22	E7EP60;P13612;E7ESG7	.;ITA4_HUMAN;.	P	22	ENSP00000340149:L22P;ENSP00000380227:L22P;ENSP00000233573:L22P	ENSP00000233573:L22P	L	+	2	0	ITGA4	182030691	0.973000	0.33851	0.996000	0.52242	0.036000	0.12997	1.620000	0.36976	1.886000	0.54624	0.459000	0.35465	CTG		0.672	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			4	15	0	0	0	1	0	4	15				
TRBV7-1	28597	broad.mit.edu	37	7	142032484	142032484	+	RNA	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:142032484C>A	ENST00000547918.2	+	0	337									T cell receptor beta variable 7-1 (non-functional)																		CCAGCGCACACAGCAGGGGGA	0.562																																						ENST00000547918.2																			0																																																			28597							g.chr7:142032484C>A	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032484C>A														0	337	+									RNA	SNP	ENST00000547918.2	37																																																																																						0.562	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		8	22	1	0	1.12685e-05	1	1.21922e-05	8	22				
WBP11P1	441818	broad.mit.edu	37	18	30093455	30093455	+	RNA	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr18:30093455G>C	ENST00000567636.1	+	0	1830					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TTGATTCAGCGATCCAAGGTA	0.532																																						ENST00000567636.1																			0																																																			441818							g.chr18:30093455G>C	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30093455G>C								NR_003558.1						0	1830	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.532	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			114	54	0	0	0	1	0	114	54				
MAGEC1	9947	broad.mit.edu	37	X	140993692	140993692	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:140993692A>T	ENST00000285879.4	+	4	788	c.502A>T	c.(502-504)Agc>Tgc	p.S168C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	168										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GATTCCTGTGAGCGCCGCCTC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(502-504)Agc>Tgc		melanoma antigen family C, 1							82.0	88.0	86.0					X																	140993692		2202	4294	6496	SO:0001583	missense	9947						protein binding	g.chrX:140993692A>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.502A>T	X.37:g.140993692A>T	ENSP00000285879:p.Ser168Cys	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S168C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	788	+	Acute lymphoblastic leukemia(192;6.56e-05)		168					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.502A>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	6.998	0.554301	0.13374	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	.	.	.	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.58432	D	0.999995	D	0.54964	0.969	P	0.57776	0.827	T	0.60342	-0.7282	8	0.87932	D	0	.	3.316	0.07034	0.6604:0.0:0.3396:0.0	.	168	O60732	MAGC1_HUMAN	C	168	ENSP00000285879:S168C	ENSP00000285879:S168C	S	+	1	0	MAGEC1	140821358	0.047000	0.20315	0.015000	0.15790	0.015000	0.08874	2.068000	0.41471	0.046000	0.15833	0.046000	0.15203	AGC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		42	121	0	0	0	1	0	42	121				
PPP2R1A	5518	broad.mit.edu	37	19	52724235	52724235	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:52724235A>G	ENST00000322088.6	+	12	1425	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Y401C|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Y277C	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	456	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCTGCAGTATATGCCATCCGC	0.532			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1366-1368)tAt>tGt		protein phosphatase 2, regulatory subunit A, alpha							90.0	85.0	87.0					19																	52724235		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724235A>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1367A>G	19.37:g.52724235A>G	ENSP00000324804:p.Tyr456Cys					PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Y277C|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Y401C	p.Y456C	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1425	+			456			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1367A>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440822	0.63067	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.17213	2.29;2.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000091	T	0.28896	0.0717	M	0.84219	2.685	0.80722	D	1	P;B	0.35107	0.484;0.027	B;B	0.40165	0.321;0.041	T	0.13388	-1.0511	10	0.66056	D	0.02	-13.6035	12.1013	0.53785	1.0:0.0:0.0:0.0	.	401;456	F5H3X9;P30153	.;2AAA_HUMAN	C	446;376;456;401	ENSP00000324804:Y456C;ENSP00000415067:Y401C	ENSP00000324804:Y456C	Y	+	2	0	PPP2R1A	57416047	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.373000	0.90131	2.026000	0.59711	0.533000	0.62120	TAT		0.532	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		29	49	0	0	0	1	0	29	49				
LANCL3	347404	broad.mit.edu	37	X	37526718	37526718	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:37526718C>A	ENST00000378619.3	+	4	1298	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y	LANCL3_ENST00000378621.3_Missense_Mutation_p.S360Y|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	360							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						ACGGGAAACTCTAAATACATC	0.418																																						ENST00000378621.3																			0				lung(4)|pancreas(1)	5						c.(1078-1080)tCt>tAt		LanC lantibiotic synthetase component C-like 3 (bacterial)							58.0	51.0	53.0					X																	37526718		2202	4300	6502	SO:0001583	missense	347404						catalytic activity	g.chrX:37526718C>A	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.1079C>A	X.37:g.37526718C>A	ENSP00000367882:p.Ser360Tyr					TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Missense_Mutation_p.S360Y	p.S360Y	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN			4	1381	+			360					A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	c.1079C>A	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241779	0.22711	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	T;T	0.45276	0.9;0.9	5.49	3.68	0.42216	Six-hairpin glycosidase-like (1);	0.139211	0.49305	D	0.000143	T	0.52500	0.1738	L	0.52573	1.65	0.40018	D	0.975379	D;D	0.65815	0.995;0.994	P;P	0.62649	0.905;0.718	T	0.51756	-0.8665	10	0.62326	D	0.03	-8.8789	9.7102	0.40240	0.1407:0.7845:0.0:0.0748	.	360;360	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	Y	360	ENSP00000367885:S360Y;ENSP00000367882:S360Y	ENSP00000367882:S360Y	S	+	2	0	LANCL3	37411637	1.000000	0.71417	0.006000	0.13384	0.001000	0.01503	4.780000	0.62382	0.473000	0.27368	-0.192000	0.12808	TCT		0.418	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		16	26	1	0	6.94344e-10	1	8.14697e-10	16	26				
PLCD4	84812	broad.mit.edu	37	2	219486264	219486264	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:219486264G>T	ENST00000450993.2	+	5	821	c.482G>T	c.(481-483)cGg>cTg	p.R161L	PLCD4_ENST00000417849.1_Missense_Mutation_p.R161L|PLCD4_ENST00000432688.1_Missense_Mutation_p.R161L|U3_ENST00000516996.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	161	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGTTCAGCGGTTATTGCAC	0.463																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(481-483)cGg>cTg		phospholipase C, delta 4							322.0	323.0	323.0					2																	219486264		2005	4175	6180	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219486264G>T	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.482G>T	2.37:g.219486264G>T	ENSP00000388631:p.Arg161Leu					PLCD4_ENST00000432688.1_Missense_Mutation_p.R161L|PLCD4_ENST00000417849.1_Missense_Mutation_p.R161L	p.R161L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	5	821	+		Renal(207;0.0915)	161			EF-hand 1.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.482G>T	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698029	0.30142	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	T;T;T	0.78003	-1.14;-1.14;-1.14	4.46	4.46	0.54185	EF-hand-like domain (1);	0.134067	0.49916	D	0.000133	T	0.78059	0.4224	M	0.70275	2.135	0.09310	N	0.999999	B;B	0.30851	0.113;0.297	B;B	0.42030	0.258;0.373	T	0.68150	-0.5485	10	0.34782	T	0.22	.	7.4717	0.27353	0.0902:0.1703:0.7395:0.0	.	161;161	B7Z5V4;Q9BRC7	.;PLCD4_HUMAN	L	161	ENSP00000388631:R161L;ENSP00000396942:R161L;ENSP00000396185:R161L	ENSP00000251959:R161L	R	+	2	0	PLCD4	219194508	0.428000	0.25522	0.885000	0.34714	0.854000	0.48673	2.436000	0.44819	2.320000	0.78422	0.603000	0.83216	CGG		0.463	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			72	174	1	0	1.49552e-23	1	2.18736e-23	72	174				
CROCCP2	84809	broad.mit.edu	37	1	16945358	16945358	+	lincRNA	SNP	G	G	C	rs945905	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:16945358G>C	ENST00000412962.1	-	0	2161				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGTAGGAGAAGAGAGAGGAAG	0.567																																						ENST00000412962.1																			0																																																			84809							g.chr1:16945358G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945358G>C														0	2161	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.567	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	25	0	0	0	1	0	3	25				
EMC2	9694	broad.mit.edu	37	8	109462140	109462140	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:109462140A>G	ENST00000220853.3	+	2	164	c.129A>G	c.(127-129)gaA>gaG	p.E43E		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	43						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TAATTAATGAATATGCTTCTA	0.313																																						ENST00000220853.3																			0											c.(127-129)gaA>gaG		ER membrane protein complex subunit 2							93.0	109.0	104.0					8																	109462140		2203	4298	6501	SO:0001819	synonymous_variant	9694							g.chr8:109462140A>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.129A>G	8.37:g.109462140A>G							p.E43E	NM_014673.3	NP_055488.1					2	164	+								Q8WUE1	Silent	SNP	ENST00000220853.3	37	c.129A>G	CCDS6309.1																																																																																				0.313	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		25	49	0	0	0	1	0	25	49				
IRF1	3659	broad.mit.edu	37	5	131819709	131819709	+	Silent	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:131819709G>C	ENST00000245414.4	-	10	1170	c.912C>G	c.(910-912)acC>acG	p.T304T	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Silent_p.T304T	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	304					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TGTCCAGCCAGGTGGCATCCA	0.577																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(910-912)acC>acG		interferon regulatory factor 1							104.0	97.0	99.0					5																	131819709		2203	4300	6503	SO:0001819	synonymous_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131819709G>C		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.912C>G	5.37:g.131819709G>C						IRF1_ENST00000405885.2_Silent_p.T304T	p.T304T	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	10	1170	-		all_cancers(142;0.026)|Breast(839;0.198)	304					Q96GG7	Silent	SNP	ENST00000245414.4	37	c.912C>G	CCDS4155.1																																																																																				0.577	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		15	38	0	0	0	1	0	15	38				
POLE	5426	broad.mit.edu	37	12	133219562	133219562	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:133219562G>A	ENST00000320574.5	-	36	4615	c.4572C>T	c.(4570-4572)ccC>ccT	p.P1524P	POLE_ENST00000535270.1_Silent_p.P1497P|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1524					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CGCCAAGGCTGGGCATCTGGT	0.672								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4570-4572)ccC>ccT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							43.0	42.0	42.0					12																	133219562		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219562G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4572C>T	12.37:g.133219562G>A						POLE_ENST00000535270.1_Silent_p.P1497P	p.P1524P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	36	4615	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1524					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.4572C>T	CCDS9278.1																																																																																				0.672	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		3	30	0	0	0	1	0	3	30				
KLF7	8609	broad.mit.edu	37	2	207988812	207988812	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:207988812G>A	ENST00000309446.6	-	2	795	c.419C>T	c.(418-420)tCg>tTg	p.S140L	KLF7_ENST00000421199.1_Missense_Mutation_p.S107L|KLF7_ENST00000423015.1_Missense_Mutation_p.S140L|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Missense_Mutation_p.S112L|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000467833.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	140					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTCAGGGGACGATGGGGGCGT	0.597																																						ENST00000309446.6																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(418-420)tCg>tTg		Kruppel-like factor 7 (ubiquitous)							74.0	72.0	72.0					2																	207988812		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988812G>A	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.419C>T	2.37:g.207988812G>A	ENSP00000309570:p.Ser140Leu					KLF7_ENST00000412414.2_Missense_Mutation_p.S112L|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.S107L|KLF7_ENST00000423015.1_Missense_Mutation_p.S140L	p.S140L	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	2	795	-			140					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.419C>T	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823158	0.71143	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000423015;ENST00000412414;ENST00000435602	T;T;T	0.07327	3.21;3.2;3.2	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.949;0.995;0.926	T	0.00327	-1.1814	10	0.30854	T	0.27	.	19.7888	0.96450	0.0:0.0:1.0:0.0	.	112;140;140	B7Z4F7;Q96E51;O75840	.;.;KLF7_HUMAN	L	140;107;140;112;112	ENSP00000309570:S140L;ENSP00000387510:S107L;ENSP00000403284:S112L	ENSP00000309570:S140L	S	-	2	0	KLF7	207697057	1.000000	0.71417	0.812000	0.32479	0.989000	0.77384	9.362000	0.97126	2.697000	0.92050	0.491000	0.48974	TCG		0.597	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		26	50	0	0	0	1	0	26	50				
NUDT12	83594	broad.mit.edu	37	5	102888111	102888111	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:102888111G>T	ENST00000230792.2	-	6	1181	c.1085C>A	c.(1084-1086)aCa>aAa	p.T362K	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_Missense_Mutation_p.T344K	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	362	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATCTTCTATTGTCTCTCCTAA	0.443																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1084-1086)aCa>aAa		nudix (nucleoside diphosphate linked moiety X)-type motif 12							156.0	147.0	150.0					5																	102888111		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102888111G>T	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1085C>A	5.37:g.102888111G>T	ENSP00000230792:p.Thr362Lys					NUDT12_ENST00000507423.1_Missense_Mutation_p.T344K	p.T362K	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	6	1181	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	362			Nudix hydrolase.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.1085C>A	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226044	0.79576	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.53206	0.63;0.63	5.71	5.71	0.89125	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.143148	0.64402	D	0.000007	T	0.73814	0.3635	M	0.85299	2.745	0.49582	D	0.999806	D;D	0.67145	0.982;0.996	P;D	0.72625	0.906;0.978	T	0.77376	-0.2611	10	0.87932	D	0	-23.5987	19.8594	0.96778	0.0:0.0:1.0:0.0	.	344;362	E7EM93;Q9BQG2	.;NUD12_HUMAN	K	362;344	ENSP00000230792:T362K;ENSP00000424521:T344K	ENSP00000230792:T362K	T	-	2	0	NUDT12	102916010	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.191000	0.72063	2.691000	0.91804	0.650000	0.86243	ACA		0.443	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		17	39	1	0	6.94344e-10	1	8.14697e-10	17	39				
SYCP2L	221711	broad.mit.edu	37	6	10931680	10931680	+	Silent	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:10931680A>T	ENST00000283141.6	+	20	1937	c.1641A>T	c.(1639-1641)ccA>ccT	p.P547P		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	547						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TAGTCTTGCCAGTTTTCCCTC	0.398																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1639-1641)ccA>ccT		synaptonemal complex protein 2-like							179.0	167.0	171.0					6																	10931680		1893	4114	6007	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10931680A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1641A>T	6.37:g.10931680A>T							p.P547P	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		20	1937	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	547					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.1641A>T	CCDS43423.1																																																																																				0.398	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		21	59	0	0	0	1	0	21	59				
ZNF492	57615	broad.mit.edu	37	19	22836738	22836738	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:22836738G>A	ENST00000456783.2	+	3	295	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	17	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)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTGCCTCTAAGCCAGACCTGA	0.403																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(49-51)aaG>aaA		zinc finger protein 492							53.0	63.0	60.0					19																	22836738		2188	4277	6465	SO:0001819	synonymous_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836738G>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.51G>A	19.37:g.22836738G>A							p.K17K	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			3	295	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	17			KRAB.		Q08EI7|Q08EI8	Silent	SNP	ENST00000456783.2	37	c.51G>A	CCDS46032.1																																																																																				0.403	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		43	73	0	0	0	1	0	43	73				
SLC5A4	6527	broad.mit.edu	37	22	32633238	32633238	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:32633238C>T	ENST00000266086.4	-	7	668	c.657G>A	c.(655-657)atG>atA	p.M219I	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	219					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACCAAACCCCATGAGAATAA	0.512																																						ENST00000266086.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(655-657)atG>atA		solute carrier family 5 (glucose activated ion channel), member 4							84.0	60.0	68.0					22																	32633238		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32633238C>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.657G>A	22.37:g.32633238C>T	ENSP00000266086:p.Met219Ile					RP1-90G24.10_ENST00000434942.1_RNA	p.M219I	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN			7	668	-			219					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.657G>A	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.945877	0.73672	.	.	ENSG00000100191	ENST00000266086	D	0.88124	-2.34	4.57	3.47	0.39725	.	0.037604	0.85682	D	0.000000	D	0.94000	0.8078	M	0.93106	3.38	0.58432	D	0.999995	P	0.35077	0.483	P	0.55749	0.783	D	0.94552	0.7754	10	0.87932	D	0	.	11.8197	0.52232	0.1755:0.8245:0.0:0.0	.	219	Q9NY91	SC5A4_HUMAN	I	219	ENSP00000266086:M219I	ENSP00000266086:M219I	M	-	3	0	SLC5A4	30963238	1.000000	0.71417	0.991000	0.47740	0.760000	0.43138	1.982000	0.40638	2.541000	0.85698	0.655000	0.94253	ATG		0.512	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		5	13	0	0	0	1	0	5	13				
TPO	7173	broad.mit.edu	37	2	1480884	1480884	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:1480884G>A	ENST00000345913.4	+	8	937	c.846G>A	c.(844-846)gcG>gcA	p.A282A	TPO_ENST00000337415.3_Silent_p.A282A|TPO_ENST00000346956.3_Silent_p.A282A|TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Silent_p.A282A|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Silent_p.A282A|TPO_ENST00000349624.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	282					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGGCCGCGGGCACCGCCT	0.701																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(844-846)gcG>gcA		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						8.0	12.0	11.0					2																	1480884		2139	4185	6324	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480884G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.846G>A	2.37:g.1480884G>A						TPO_ENST00000337415.3_Silent_p.A282A|TPO_ENST00000382201.3_Silent_p.A282A|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Silent_p.A282A|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Silent_p.A282A	p.A282A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	937	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	282					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.846G>A	CCDS1643.1																																																																																				0.701	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		7	8	0	0	0	1	0	7	8				
GPC4	2239	broad.mit.edu	37	X	132548993	132548993	+	Start_Codon_SNP	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:132548993T>C	ENST00000370828.3	-	1	525	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	GPC4_ENST00000535467.1_5'Flank	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	1					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AACCGTGCCATGGTGCGGGCC	0.706																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1-3)Atg>Gtg		glypican 4							20.0	22.0	21.0					X																	132548993		2202	4292	6494	SO:0001582	initiator_codon_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132548993T>C	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1A>G	X.37:g.132548993T>C	ENSP00000359864:p.Met1Val						p.M1V	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			1	525	-	Acute lymphoblastic leukemia(192;0.000127)		1					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Translation_Start_Site	SNP	ENST00000370828.3	37	c.1A>G	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753896	0.49362	.	.	ENSG00000076716	ENST00000370828;ENST00000536418	T	0.36157	1.27	4.22	4.22	0.49857	.	0.515151	0.19034	N	0.124468	T	0.31071	0.0785	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13202	-1.0518	9	0.87932	D	0	.	10.4964	0.44780	0.0:0.0:0.0:1.0	.	1	O75487	GPC4_HUMAN	V	1	ENSP00000359864:M1V	ENSP00000359864:M1V	M	-	1	0	GPC4	132376659	1.000000	0.71417	0.987000	0.45799	0.832000	0.47134	4.424000	0.59868	1.364000	0.46038	0.381000	0.24937	ATG		0.706	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448	Missense_Mutation	12	29	0	0	0	1	0	12	29				
APBA2	321	broad.mit.edu	37	15	29393882	29393882	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:29393882C>A	ENST00000558402.1	+	11	2018	c.1419C>A	c.(1417-1419)cgC>cgA	p.R473R	APBA2_ENST00000561069.1_Silent_p.R473R|APBA2_ENST00000411764.1_Silent_p.R461R|APBA2_ENST00000558259.1_Silent_p.R473R|APBA2_ENST00000558330.1_Silent_p.R461R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	473	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGCCAGACGCCGCATGCCCC	0.587																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1417-1419)cgC>cgA		amyloid beta (A4) precursor protein-binding, family A, member 2							99.0	70.0	80.0					15																	29393882		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29393882C>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1419C>A	15.37:g.29393882C>A						APBA2_ENST00000558330.1_Silent_p.R461R|APBA2_ENST00000558259.1_Silent_p.R473R|APBA2_ENST00000411764.1_Silent_p.R461R|APBA2_ENST00000561069.1_Silent_p.R473R	p.R473R			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	2018	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	473			PID.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.1419C>A	CCDS10022.1																																																																																				0.587	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		29	9	1	0	7.38237e-10	1	8.62365e-10	29	9				
SESN2	83667	broad.mit.edu	37	1	28598309	28598309	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:28598309G>C	ENST00000253063.3	+	3	602	c.281G>C	c.(280-282)tGg>tCg	p.W94S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	94					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCTTCTGGCGCCTGCAC	0.617																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(280-282)tGg>tCg		sestrin 2							90.0	78.0	82.0					1																	28598309		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28598309G>C	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.281G>C	1.37:g.28598309G>C	ENSP00000253063:p.Trp94Ser						p.W94S	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	3	602	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	94					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.281G>C	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883832	0.72410	.	.	ENSG00000130766	ENST00000253063	T	0.41758	0.99	4.99	4.99	0.66335	.	0.160120	0.50627	D	0.000107	T	0.56834	0.2012	L	0.51422	1.61	0.80722	D	1	D	0.61697	0.99	P	0.61658	0.892	T	0.54918	-0.8221	10	0.42905	T	0.14	-16.8187	18.231	0.89934	0.0:0.0:1.0:0.0	.	94	P58004	SESN2_HUMAN	S	94	ENSP00000253063:W94S	ENSP00000253063:W94S	W	+	2	0	SESN2	28470896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.719000	0.61937	2.480000	0.83734	0.655000	0.94253	TGG		0.617	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			27	44	0	0	0	1	0	27	44				
ZC3H11A	9877	broad.mit.edu	37	1	203819770	203819770	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:203819770C>T	ENST00000545588.1	+	15	5894	c.2067C>T	c.(2065-2067)agC>agT	p.S689S	ZC3H11A_ENST00000367212.3_Silent_p.S689S|ZC3H11A_ENST00000367214.1_Silent_p.S689S|ZC3H11A_ENST00000332127.4_Silent_p.S689S|ZC3H11A_ENST00000367210.1_Silent_p.S689S	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	689					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAGCTCCAGCAGTGTCCTAC	0.498																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2065-2067)agC>agT		zinc finger CCCH-type containing 11A							74.0	76.0	75.0					1																	203819770		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819770C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2067C>T	1.37:g.203819770C>T						ZC3H11A_ENST00000367214.1_Silent_p.S689S|ZC3H11A_ENST00000332127.4_Silent_p.S689S|ZC3H11A_ENST00000367210.1_Silent_p.S689S|ZC3H11A_ENST00000367212.3_Silent_p.S689S	p.S689S	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	5894	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		689					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.2067C>T	CCDS30978.1																																																																																				0.498	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		29	39	0	0	0	1	0	29	39				
LAMP2	3920	broad.mit.edu	37	X	119575685	119575685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:119575685G>T	ENST00000200639.4	-	8	1129	c.993C>A	c.(991-993)tgC>tgA	p.C331*	LAMP2_ENST00000371335.4_Nonsense_Mutation_p.C331*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.C331*|LAMP2_ENST00000540603.1_Nonsense_Mutation_p.C284*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.C220*			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	331	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTCTTTGTTGCACATATAAG	0.393																																						ENST00000371335.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(991-993)tgC>tgA		lysosomal-associated membrane protein 2							104.0	96.0	99.0					X																	119575685		2203	4300	6503	SO:0001587	stop_gained	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119575685G>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.993C>A	X.37:g.119575685G>T	ENSP00000200639:p.Cys331*					LAMP2_ENST00000540603.1_Nonsense_Mutation_p.C284*|LAMP2_ENST00000200639.4_Nonsense_Mutation_p.C331*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.C331*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.C220*	p.C331*	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN			8	1129	-			331			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Nonsense_Mutation	SNP	ENST00000200639.4	37	c.993C>A	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	37	6.594202	0.97692	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2149	17.8915	0.88874	0.0:0.0:1.0:0.0	.	.	.	.	X	331;220;331;331;284	.	ENSP00000200639:C331X	C	-	3	2	LAMP2	119459713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.515000	0.45512	2.445000	0.82738	0.594000	0.82650	TGC		0.393	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			21	56	1	0	8.10497e-08	1	9.18332e-08	21	56				
ASPM	259266	broad.mit.edu	37	1	197072043	197072043	+	Missense_Mutation	SNP	A	A	T	rs375913831|rs199422169		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:197072043A>T	ENST00000367409.4	-	18	6594	c.6338T>A	c.(6337-6339)aTt>aAt	p.I2113N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2113	IQ 16. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATGTGTTGAATATGTCTTCT	0.313																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6337-6339)aTt>aAt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							116.0	121.0	119.0					1																	197072043		2203	4297	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072043A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6338T>A	1.37:g.197072043A>T	ENSP00000356379:p.Ile2113Asn					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.I2113N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6594	-			2113			IQ 16.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6338T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	a	9.665	1.145269	0.21288	.	.	ENSG00000066279	ENST00000367409	T	0.71698	-0.59	5.59	3.23	0.37069	.	0.242242	0.34828	N	0.003641	T	0.80844	0.4701	M	0.83118	2.625	0.21473	N	0.999677	D	0.76494	0.999	D	0.72982	0.979	T	0.69161	-0.5218	10	0.33940	T	0.23	.	6.4193	0.21734	0.7865:0.0:0.0751:0.1384	.	2113	Q8IZT6	ASPM_HUMAN	N	2113	ENSP00000356379:I2113N	ENSP00000356379:I2113N	I	-	2	0	ASPM	195338666	0.177000	0.23109	0.001000	0.08648	0.746000	0.42486	4.072000	0.57563	0.382000	0.24878	0.520000	0.50463	ATT		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		64	91	0	0	0	1	0	64	91				
SESN3	143686	broad.mit.edu	37	11	94918607	94918607	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:94918607T>C	ENST00000536441.1	-	5	911	c.575A>G	c.(574-576)cAt>cGt	p.H192R	SESN3_ENST00000393234.1_Missense_Mutation_p.H192R|SESN3_ENST00000416495.2_Missense_Mutation_p.H192R|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.H53R	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	192					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GACCACAGCATGTACCAGTTC	0.388																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(574-576)cAt>cGt		sestrin 3							100.0	101.0	101.0					11																	94918607		2201	4297	6498	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94918607T>C	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.575A>G	11.37:g.94918607T>C	ENSP00000441927:p.His192Arg					SESN3_ENST00000278499.2_Missense_Mutation_p.H53R|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.H192R|SESN3_ENST00000416495.2_Missense_Mutation_p.H192R	p.H192R	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	5	911	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	192					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.575A>G	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304774	0.60305	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	M	0.87682	2.9	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.999	D;D;D	0.85130	0.987;0.994;0.997	T	0.75516	-0.3290	10	0.66056	D	0.02	-6.0866	15.6791	0.77352	0.0:0.0:0.0:1.0	.	53;192;192	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	R	192;53;192;192	ENSP00000441927:H192R;ENSP00000278499:H53R;ENSP00000376926:H192R;ENSP00000407008:H192R	ENSP00000278499:H53R	H	-	2	0	SESN3	94558255	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.240000	0.78192	2.170000	0.68504	0.459000	0.35465	CAT		0.388	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		85	35	0	0	0	1	0	85	35				
NCL	4691	broad.mit.edu	37	2	232320299	232320299	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:232320299G>A	ENST00000322723.4	-	13	2109	c.1869C>T	c.(1867-1869)gcC>gcT	p.A623A	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	623	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.			Missing (in Ref. 2; AAA59954). {ECO:0000305}.	angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGCAGCTTTGGCATCCTCCT	0.463																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1867-1869)gcC>gcT		nucleolin							181.0	192.0	188.0					2																	232320299		2203	4300	6503	SO:0001819	synonymous_variant	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232320299G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1869C>T	2.37:g.232320299G>A							p.A623A	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	13	2109	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	623	Missing (in Ref. 2; AAA59954).		RRM 4.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	c.1869C>T	CCDS33397.1																																																																																				0.463	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		65	135	0	0	0	1	0	65	135				
HTR2C	3358	broad.mit.edu	37	X	113965829	113965829	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:113965829C>T	ENST00000276198.1	+	4	890	c.162C>T	c.(160-162)aaC>aaT	p.N54N	HTR2C_ENST00000371951.1_Silent_p.N54N|HTR2C_ENST00000371950.3_Silent_p.N54N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	54					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGTACAAAACTGGCCAGCAC	0.438																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(160-162)aaC>aaT		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						165.0	141.0	149.0					X																	113965829		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965829C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.162C>T	X.37:g.113965829C>T						HTR2C_ENST00000371951.1_Silent_p.N54N|HTR2C_ENST00000371950.3_Silent_p.N54N	p.N54N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	890	+			54					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.162C>T	CCDS14564.1																																																																																				0.438	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		54	97	0	0	0	1	0	54	97				
KDR	3791	broad.mit.edu	37	4	55979531	55979531	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:55979531T>C	ENST00000263923.4	-	7	1211	c.916A>G	c.(916-918)Acc>Gcc	p.T306A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	306	Ig-like C2-type 3.				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)	GCTGCACAGGTGTACAATCCT	0.453			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.(916-918)Acc>Gcc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						188.0	173.0	178.0					4																	55979531		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.chr4:55979531T>C	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.916A>G	4.37:g.55979531T>C	ENSP00000263923:p.Thr306Ala	TSP Lung(20;0.16)					p.T306A	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1211	-	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)		306			Ig-like C2-type 3.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.916A>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308318	0.40895	.	.	ENSG00000128052	ENST00000263923	T	0.68479	-0.33	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.482328	0.24147	N	0.041109	T	0.68815	0.3042	M	0.76002	2.32	0.47547	D	0.999455	B;B	0.28584	0.066;0.216	B;B	0.34038	0.052;0.174	T	0.66528	-0.5901	10	0.30854	T	0.27	.	14.7194	0.69294	0.0:0.0:0.0:1.0	.	306;306	P35968-2;P35968	.;VGFR2_HUMAN	A	306	ENSP00000263923:T306A	ENSP00000263923:T306A	T	-	1	0	KDR	55674288	0.159000	0.22864	0.736000	0.30914	0.282000	0.26991	3.098000	0.50259	2.067000	0.61834	0.460000	0.39030	ACC		0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			39	77	0	0	0	1	0	39	77				
GC	2638	broad.mit.edu	37	4	72629207	72629207	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:72629207T>A	ENST00000273951.8	-	6	962	c.619A>T	c.(619-621)Aaa>Taa	p.K207*	GC_ENST00000504199.1_Nonsense_Mutation_p.K226*|GC_ENST00000513476.1_Nonsense_Mutation_p.K207*|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	207	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GATAAATGTTTAAGCTGGAGT	0.353																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(619-621)Aaa>Taa		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						81.0	80.0	80.0					4																	72629207		2203	4300	6503	SO:0001587	stop_gained	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72629207T>A	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.619A>T	4.37:g.72629207T>A	ENSP00000273951:p.Lys207*					GC_ENST00000513476.1_Nonsense_Mutation_p.K207*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.K226*	p.K207*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		6	962	-		all_hematologic(202;0.107)	207			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Nonsense_Mutation	SNP	ENST00000273951.8	37	c.619A>T	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869945	0.91587	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	.	.	.	5.72	5.72	0.89469	.	0.160139	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6654	0.77225	0.0:0.0:0.0:1.0	.	.	.	.	X	207;226;207	.	ENSP00000273951:K207X	K	-	1	0	GC	72848071	0.941000	0.31946	0.016000	0.15963	0.022000	0.10575	4.993000	0.63895	2.176000	0.68965	0.533000	0.62120	AAA		0.353	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			19	25	0	0	0	1	0	19	25				
OR13C8	138802	broad.mit.edu	37	9	107332101	107332101	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:107332101A>G	ENST00000335040.1	+	1	653	c.653A>G	c.(652-654)tAc>tGc	p.Y218C		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCCATCTCTTACATATTTATT	0.398																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(652-654)tAc>tGc		olfactory receptor, family 13, subfamily C, member 8							173.0	170.0	171.0					9																	107332101		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332101A>G		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.653A>G	9.37:g.107332101A>G	ENSP00000334068:p.Tyr218Cys						p.Y218C	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	653	+			218					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.653A>G	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992884	0.54041	.	.	ENSG00000186943	ENST00000335040	T	0.00520	6.85	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.03434	0.0099	H	0.97365	3.99	0.41544	D	0.988537	D	0.89917	1.0	D	0.91635	0.999	T	0.00749	-1.1582	10	0.87932	D	0	.	12.7593	0.57354	1.0:0.0:0.0:0.0	.	218	Q8NGS7	O13C8_HUMAN	C	218	ENSP00000334068:Y218C	ENSP00000334068:Y218C	Y	+	2	0	OR13C8	106371922	1.000000	0.71417	0.993000	0.49108	0.851000	0.48451	4.748000	0.62148	2.175000	0.68902	0.533000	0.62120	TAC		0.398	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			36	39	0	0	0	1	0	36	39				
BTBD3	22903	broad.mit.edu	37	20	11903566	11903566	+	Missense_Mutation	SNP	G	G	A	rs530038210		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:11903566G>A	ENST00000405977.1	+	5	1446	c.821G>A	c.(820-822)cGt>cAt	p.R274H	BTBD3_ENST00000378226.2_Missense_Mutation_p.R274H|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000399006.2_Missense_Mutation_p.R213H|BTBD3_ENST00000254977.3_Missense_Mutation_p.R213H	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	274	BACK.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGTATTCTCCGTAGGGAAACT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		21552	0.001		0.0	False		,,,				2504	0.0					ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(820-822)cGt>cAt		BTB (POZ) domain containing 3							81.0	87.0	85.0					20																	11903566		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903566G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.821G>A	20.37:g.11903566G>A	ENSP00000384545:p.Arg274His					BTBD3_ENST00000399006.2_Missense_Mutation_p.R213H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R274H|BTBD3_ENST00000254977.3_Missense_Mutation_p.R213H|BTBD3_ENST00000488503.1_3'UTR	p.R274H			Q9Y2F9	BTBD3_HUMAN			5	1446	+			274					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.821G>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824593	0.50739	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	6.16	6.16	0.99307	BTB/Kelch-associated (2);	0.200783	0.56097	D	0.000039	T	0.59878	0.2226	L	0.45352	1.415	0.52099	D	0.999946	B	0.13594	0.008	B	0.13407	0.009	T	0.55679	-0.8103	10	0.59425	D	0.04	.	13.0629	0.59018	0.0724:0.0:0.9276:0.0	.	274	Q9Y2F9	BTBD3_HUMAN	H	213;213;274;274	ENSP00000254977:R213H;ENSP00000381971:R213H;ENSP00000384545:R274H;ENSP00000367471:R274H	ENSP00000254977:R213H	R	+	2	0	BTBD3	11851566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.255000	0.51484	2.937000	0.99478	0.650000	0.86243	CGT		0.478	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			28	61	0	0	0	1	0	28	61				
SLC12A1	6557	broad.mit.edu	37	15	48527167	48527167	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:48527167T>C	ENST00000558405.1	+	8	1195	c.1181T>C	c.(1180-1182)aTt>aCt	p.I394T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.I394T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.I394T|SLC12A1_ENST00000330289.6_Missense_Mutation_p.I394T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	394					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCTACTGGGATTCTTGCTGGT	0.488																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1180-1182)aTt>aCt		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						131.0	132.0	132.0					15																	48527167		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48527167T>C		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1181T>C	15.37:g.48527167T>C	ENSP00000453409:p.Ile394Thr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.I394T|SLC12A1_ENST00000330289.6_Missense_Mutation_p.I394T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.I394T	p.I394T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	9	1396	+		all_lung(180;0.00219)	394					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1181T>C	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509579	0.85282	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98876	-5.2;-5.2;-5.2	5.32	5.32	0.75619	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.999;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	15.577	0.76400	0.0:0.0:0.0:1.0	.	394;394;394	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	T	207;394;394;394	ENSP00000370381:I394T;ENSP00000379822:I394T;ENSP00000331550:I394T	ENSP00000331550:I394T	I	+	2	0	SLC12A1	46314459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.137000	0.66172	0.533000	0.62120	ATT		0.488	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			66	44	0	0	0	1	0	66	44				
NLGN3	54413	broad.mit.edu	37	X	70387194	70387194	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:70387194G>A	ENST00000358741.3	+	7	1550	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	NLGN3_ENST00000536169.1_Missense_Mutation_p.G376E|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.G396E	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	416					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TTTGTGGAAGGGGTGGTGGAC	0.517																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1186-1188)gGg>gAg		neuroligin 3							133.0	100.0	111.0					X																	70387194		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70387194G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1247G>A	X.37:g.70387194G>A	ENSP00000351591:p.Gly416Glu					NLGN3_ENST00000358741.3_Missense_Mutation_p.G416E|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G376E	p.G396E	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			6	1509	+	Renal(35;0.156)		416					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.1187G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806542	0.31961	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.14	4.25	0.50352	Carboxylesterase, type B (1);	0.166422	0.56097	D	0.000031	T	0.50000	0.1590	L	0.37466	1.105	0.41950	D	0.990653	B;B;B	0.30526	0.037;0.283;0.11	B;B;B	0.32393	0.099;0.145;0.09	T	0.50833	-0.8781	10	0.38643	T	0.18	.	9.6948	0.40150	0.0852:0.1536:0.7612:0.0	.	376;416;396	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	E	376;279;396;376;416	ENSP00000445298:G376E;ENSP00000363163:G396E;ENSP00000379196:G376E;ENSP00000351591:G416E	ENSP00000351591:G416E	G	+	2	0	NLGN3	70303919	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.829000	0.48128	2.398000	0.81561	0.431000	0.28591	GGG		0.517	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		25	58	0	0	0	1	0	25	58				
TRPV5	56302	broad.mit.edu	37	7	142627469	142627469	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:142627469G>C	ENST00000265310.1	-	2	549	c.201C>G	c.(199-201)gaC>gaG	p.D67E	TRPV5_ENST00000442623.1_Missense_Mutation_p.D67E	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	67					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGGTGCAGTCCAGTAGAA	0.502																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(199-201)gaC>gaG		transient receptor potential cation channel, subfamily V, member 5							182.0	148.0	160.0					7																	142627469		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142627469G>C	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.201C>G	7.37:g.142627469G>C	ENSP00000265310:p.Asp67Glu					TRPV5_ENST00000442623.1_Missense_Mutation_p.D67E	p.D67E	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			2	549	-	Melanoma(164;0.059)		67					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.201C>G	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549013	0.27652	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.62788	0.72;0.0;0.09	4.44	-0.518	0.11943	Ankyrin repeat-containing domain (3);	0.338861	0.34603	N	0.003825	T	0.35068	0.0919	N	0.11698	0.16	0.09310	N	1	P;P	0.39044	0.605;0.656	B;B	0.43018	0.405;0.257	T	0.40942	-0.9536	10	0.07175	T	0.84	-9.1162	3.5177	0.07731	0.365:0.0:0.3388:0.2962	.	67;67	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	E	67;61;67	ENSP00000265310:D67E;ENSP00000406361:D61E;ENSP00000406572:D67E	ENSP00000265310:D67E	D	-	3	2	TRPV5	142337591	0.000000	0.05858	0.006000	0.13384	0.712000	0.41017	-0.314000	0.08092	-0.055000	0.13244	0.467000	0.42956	GAC		0.502	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		19	69	0	0	0	1	0	19	69				
MLN	4295	broad.mit.edu	37	6	33766918	33766918	+	Silent	SNP	C	C	T	rs377738233		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:33766918C>T	ENST00000430124.2	-	3	263	c.198G>A	c.(196-198)gcG>gcA	p.A66A	MLN_ENST00000266003.5_Silent_p.A66A|MLN_ENST00000507738.1_Silent_p.A66A	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	66					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						TGATGGGCTCCGCAGGGTCTA	0.517																																						ENST00000430124.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(196-198)gcG>gcA		motilin		T	,,	0,4406		0,0,2203	230.0	179.0	196.0		198,198,198	-5.5	0.0	6		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MLN	NM_001040109.1,NM_001184698.1,NM_002418.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	66/115,66/109,66/116	33766918	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33766918C>T		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.198G>A	6.37:g.33766918C>T						MLN_ENST00000507738.1_Silent_p.A66A|MLN_ENST00000266003.5_Silent_p.A66A	p.A66A	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN			3	263	-			66					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Silent	SNP	ENST00000430124.2	37	c.198G>A	CCDS4786.1																																																																																				0.517	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			32	63	0	0	0	1	0	32	63				
ADAMTS14	140766	broad.mit.edu	37	10	72520125	72520125	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:72520125G>T	ENST00000373207.1	+	22	3188	c.3188G>T	c.(3187-3189)tGc>tTc	p.C1063F	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.C1066F	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1063	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCGGAGCCCTGCACGGGAGAC	0.607																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3196-3198)tGc>tTc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							78.0	67.0	71.0					10																	72520125		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72520125G>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3188G>T	10.37:g.72520125G>T	ENSP00000362303:p.Cys1063Phe					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.C1063F	p.C1066F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			22	3197	+			1063			PLAC.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.3197G>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747656	0.69533	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.63096	-0.02;0.0	4.58	4.58	0.56647	PLAC (1);	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.74647	2.275	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82208	-0.0571	10	0.87932	D	0	.	17.5426	0.87852	0.0:0.0:1.0:0.0	.	1063;1066	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	F	1066;1063	ENSP00000362304:C1066F;ENSP00000362303:C1063F	ENSP00000362303:C1063F	C	+	2	0	ADAMTS14	72190131	1.000000	0.71417	0.937000	0.37676	0.515000	0.34225	9.625000	0.98406	2.535000	0.85469	0.655000	0.94253	TGC		0.607	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		20	45	1	0	5.03518e-11	1	6.05598e-11	20	45				
FAM47C	442444	broad.mit.edu	37	X	37027084	37027084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:37027084G>T	ENST00000358047.3	+	1	653	c.601G>T	c.(601-603)Gag>Tag	p.E201*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	201										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCCCCCGGAGCCTCCCAA	0.637																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(601-603)Gag>Tag		family with sequence similarity 47, member C							26.0	28.0	28.0					X																	37027084		2202	4300	6502	SO:0001587	stop_gained	442444							g.chrX:37027084G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.601G>T	X.37:g.37027084G>T	ENSP00000367913:p.Glu201*						p.E201*	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	653	+			201					Q6ZU46	Nonsense_Mutation	SNP	ENST00000358047.3	37	c.601G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147454	0.37923	.	.	ENSG00000198173	ENST00000358047	.	.	.	0.217	0.217	0.15264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	2.6916	0.05122	0.4531:0.0:0.5469:0.0	.	.	.	.	X	201	.	ENSP00000367913:E201X	E	+	1	0	FAM47C	36937005	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-1.129000	0.03244	0.273000	0.22049	0.277000	0.19347	GAG		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		11	53	1	0	1.08611e-07	1	1.21755e-07	11	53				
FCRL5	83416	broad.mit.edu	37	1	157514068	157514068	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:157514068G>T	ENST00000361835.3	-	5	985	c.828C>A	c.(826-828)tcC>tcA	p.S276S	FCRL5_ENST00000368191.3_Silent_p.S191S|FCRL5_ENST00000356953.4_Silent_p.S276S|FCRL5_ENST00000368190.3_Silent_p.S276S|FCRL5_ENST00000368189.3_Silent_p.S276S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	276					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCTGTATCCAGGATCTCGGGC	0.507																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(826-828)tcC>tcA		Fc receptor-like 5							140.0	137.0	138.0					1																	157514068		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514068G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.828C>A	1.37:g.157514068G>T						FCRL5_ENST00000368190.3_Silent_p.S276S|FCRL5_ENST00000368189.3_Silent_p.S276S|FCRL5_ENST00000368191.3_Silent_p.S191S|FCRL5_ENST00000356953.4_Silent_p.S276S	p.S276S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			5	985	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	276					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.828C>A	CCDS1165.1																																																																																				0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		88	174	1	0	9.47799e-51	1	1.49832e-50	88	174				
ZNF546	339327	broad.mit.edu	37	19	40521452	40521452	+	Missense_Mutation	SNP	C	C	A	rs368422357		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:40521452C>A	ENST00000347077.4	+	7	2491	c.2275C>A	c.(2275-2277)Cgt>Agt	p.R759S	ZNF546_ENST00000600094.1_Missense_Mutation_p.R733S|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	759					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAATGCCTTTCGTCTTCAAGC	0.393																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(2275-2277)Cgt>Agt		zinc finger protein 546							83.0	76.0	78.0					19																	40521452		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521452C>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2275C>A	19.37:g.40521452C>A	ENSP00000339823:p.Arg759Ser					ZNF546_ENST00000600094.1_Missense_Mutation_p.R733S|ZNF546_ENST00000596894.1_Intron	p.R759S	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2491	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		759					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.2275C>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	0.201	-1.044458	0.01997	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07216	3.21	2.91	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.12502	0.225	0.21147	N	0.99977	B	0.26195	0.144	B	0.28011	0.085	T	0.44726	-0.9309	9	0.06236	T	0.91	.	3.4535	0.07507	0.4078:0.4551:0.0:0.1371	.	759	Q86UE3	ZN546_HUMAN	S	759;368	ENSP00000339823:R759S	ENSP00000339823:R759S	R	+	1	0	ZNF546	45213292	0.000000	0.05858	0.949000	0.38748	0.996000	0.88848	-3.233000	0.00547	0.423000	0.26033	0.591000	0.81541	CGT		0.393	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		28	51	1	0	7.38237e-10	1	8.62365e-10	28	51				
FAM135B	51059	broad.mit.edu	37	8	139155283	139155283	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:139155283A>G	ENST00000395297.1	-	16	3780	c.3610T>C	c.(3610-3612)Ttg>Ctg	p.L1204L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1204										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGTTGTACAACTGAATGTGT	0.418										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3610-3612)Ttg>Ctg		family with sequence similarity 135, member B							136.0	129.0	131.0					8																	139155283		1900	4119	6019	SO:0001819	synonymous_variant	51059							g.chr8:139155283A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3610T>C	8.37:g.139155283A>G		HNSCC(54;0.14)					p.L1204L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		16	3780	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1204					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3610T>C	CCDS6375.2																																																																																				0.418	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		18	45	0	0	0	1	0	18	45				
PCDHGA10	56106	broad.mit.edu	37	5	140794191	140794191	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:140794191G>T	ENST00000398610.2	+	1	1449	c.1449G>T	c.(1447-1449)ccG>ccT	p.P483P	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGACCCGGACAGCAAAG	0.517																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1447-1449)ccG>ccT									126.0	135.0	132.0					5																	140794191		2087	4220	6307	SO:0001819	synonymous_variant	56106							g.chr5:140794191G>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1449G>T	5.37:g.140794191G>T						PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	p.P483P	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1449	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.1449G>T	CCDS47292.1																																																																																				0.517	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		39	85	1	0	3.61848e-18	1	4.91146e-18	39	85				
MRGPRD	116512	broad.mit.edu	37	11	68747753	68747753	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:68747753G>A	ENST00000309106.3	-	1	702	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	235						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAGAGGCAGGGAACAGATG	0.617																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(703-705)Ctg>Ttg		MAS-related GPR, member D							76.0	65.0	68.0					11																	68747753		2200	4294	6494	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747753G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.703C>T	11.37:g.68747753G>A							p.L235L	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	702	-			235					Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.703C>T	CCDS31625.1																																																																																				0.617	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		16	23	0	0	0	1	0	16	23				
IL22	50616	broad.mit.edu	37	12	68647192	68647192	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:68647192T>G	ENST00000538666.1	-	2	107	c.37A>C	c.(37-39)Atg>Ctg	p.M13L	IL22_ENST00000328087.4_Missense_Mutation_p.M13L			Q9GZX6	IL22_HUMAN	interleukin 22	13					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		AGGGTCCCCATAAGGAAAGAG	0.572																																						ENST00000538666.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(37-39)Atg>Ctg		interleukin 22							62.0	61.0	62.0					12																	68647192		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68647192T>G	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.37A>C	12.37:g.68647192T>G	ENSP00000442424:p.Met13Leu					IL22_ENST00000328087.4_Missense_Mutation_p.M13L	p.M13L			Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	2	107	-		Myeloproliferative disorder(1001;0.0255)	13						Missense_Mutation	SNP	ENST00000538666.1	37	c.37A>C	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	T	3.047	-0.196203	0.06259	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.41400	1.0;1.0	5.31	-4.69	0.03299	.	0.925574	0.09342	N	0.815363	T	0.16214	0.0390	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	.	.	.	-2.6571	2.716	0.05187	0.1228:0.2716:0.412:0.1937	.	13	Q9GZX6	IL22_HUMAN	L	13	ENSP00000442424:M13L;ENSP00000329384:M13L	.	M	-	1	0	IL22	66933459	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.793000	0.01755	-0.680000	0.05211	-0.396000	0.06452	ATG		0.572	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		24	43	0	0	0	1	0	24	43				
ALPP	250	broad.mit.edu	37	2	233246339	233246339	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:233246339C>T	ENST00000392027.2	+	11	1711	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	481					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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)		ACCTTCATAGCGCACGTCATG	0.746																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1441-1443)gCg>gTg		alkaline phosphatase, placental							16.0	20.0	19.0					2																	233246339		2190	4281	6471	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246339C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1442C>T	2.37:g.233246339C>T	ENSP00000375881:p.Ala481Val					AC068134.8_ENST00000441266.1_RNA	p.A481V	NM_001632.3	NP_001623.3	P05187	PPB1_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)	11	1711	+		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)	481					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.1442C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016609	0.54468	.	.	ENSG00000163283	ENST00000392027	D	0.96334	-3.98	2.35	2.35	0.29111	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	H	0.94542	3.55	0.51482	D	0.999923	D	0.89917	1.0	D	0.81914	0.995	D	0.98908	1.0779	10	0.72032	D	0.01	.	13.0087	0.58720	0.0:1.0:0.0:0.0	.	481	P05187	PPB1_HUMAN	V	481	ENSP00000375881:A481V	ENSP00000375881:A481V	A	+	2	0	ALPP	232954583	1.000000	0.71417	0.924000	0.36721	0.097000	0.18754	7.043000	0.76572	1.294000	0.44707	0.305000	0.20034	GCG		0.746	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		9	14	0	0	0	1	0	9	14				
FAM83E	54854	broad.mit.edu	37	19	49116530	49116530	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:49116530C>G	ENST00000263266.3	-	1	289	c.100G>C	c.(100-102)Gca>Cca	p.A34P	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	34										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCCTCCAGTGCCAGCCGCTGG	0.687																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(100-102)Gca>Cca		family with sequence similarity 83, member E							11.0	14.0	13.0					19																	49116530		1875	4021	5896	SO:0001583	missense	54854							g.chr19:49116530C>G	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.100G>C	19.37:g.49116530C>G	ENSP00000263266:p.Ala34Pro						p.A34P	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	1	289	-		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)	34					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.100G>C	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656269	0.88056	.	.	ENSG00000105523	ENST00000263266	T	0.32272	1.46	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.90145	3.09	0.48087	D	0.999583	D	0.89917	1.0	D	0.91635	0.999	T	0.71968	-0.4432	10	0.87932	D	0	-15.8864	16.2806	0.82678	0.0:1.0:0.0:0.0	.	34	Q2M2I3	FA83E_HUMAN	P	34	ENSP00000263266:A34P	ENSP00000263266:A34P	A	-	1	0	FAM83E	53808342	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	5.338000	0.65947	2.539000	0.85634	0.655000	0.94253	GCA		0.687	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		8	13	0	0	0	1	0	8	13				
PKHD1L1	93035	broad.mit.edu	37	8	110477334	110477334	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:110477334C>A	ENST00000378402.5	+	49	8377	c.8273C>A	c.(8272-8274)tCc>tAc	p.S2758Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2758					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)			GGAGTGACATCCATCTCTGGA	0.483										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.(8272-8274)tCc>tAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							138.0	139.0	139.0					8																	110477334		1939	4133	6072	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477334C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8273C>A	8.37:g.110477334C>A	ENSP00000367655:p.Ser2758Tyr	HNSCC(38;0.096)					p.S2758Y	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8377	+			2758					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8273C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785081	0.70222	.	.	ENSG00000205038	ENST00000378402	D	0.86432	-2.12	5.83	5.83	0.93111	.	0.311314	0.30556	N	0.009368	D	0.83936	0.5362	L	0.45228	1.405	0.27936	N	0.937707	P	0.45715	0.865	P	0.45913	0.497	T	0.75085	-0.3442	10	0.02654	T	1	.	17.61	0.88050	0.0:1.0:0.0:0.0	.	2758	Q86WI1	PKHL1_HUMAN	Y	2758	ENSP00000367655:S2758Y	ENSP00000367655:S2758Y	S	+	2	0	PKHD1L1	110546510	0.942000	0.31987	1.000000	0.80357	0.997000	0.91878	3.750000	0.55157	2.757000	0.94681	0.563000	0.77884	TCC		0.483	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		28	58	1	0	2.65835e-16	1	3.47427e-16	28	58				
CTNNA2	1496	broad.mit.edu	37	2	80101281	80101281	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:80101281C>T	ENST00000402739.4	+	5	670	c.665C>T	c.(664-666)aCg>aTg	p.T222M	CTNNA2_ENST00000540488.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T256M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	222					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATGCTGTACACGGCCTCTCAA	0.557																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(664-666)aCg>aTg		catenin (cadherin-associated protein), alpha 2							53.0	57.0	56.0					2																	80101281		2072	4206	6278	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101281C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.665C>T	2.37:g.80101281C>T	ENSP00000384638:p.Thr222Met					CTNNA2_ENST00000361291.4_Missense_Mutation_p.T256M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T222M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T222M	p.T222M			P26232	CTNA2_HUMAN			10	1389	+			222					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.665C>T		.	.	.	.	.	.	.	.	.	.	C	26.9	4.782315	0.90282	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.985	T	0.78231	-0.2284	10	0.87932	D	0	.	19.8448	0.96704	0.0:1.0:0.0:0.0	.	222;222;222	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	222;222;256;222;222;222	ENSP00000418191:T222M;ENSP00000419295:T222M;ENSP00000355398:T256M;ENSP00000384638:T222M;ENSP00000444675:T222M;ENSP00000441705:T222M	ENSP00000355398:T256M	T	+	2	0	CTNNA2	79954789	1.000000	0.71417	0.967000	0.41034	0.823000	0.46562	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	ACG		0.557	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		23	37	0	0	0	1	0	23	37				
POM121	9883	broad.mit.edu	37	7	72413800	72413800	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:72413800G>T	ENST00000434423.2	+	11	3268	c.3268G>T	c.(3268-3270)Ggc>Tgc	p.G1090C	POM121_ENST00000446813.1_Missense_Mutation_p.G825C|POM121_ENST00000257622.4_Missense_Mutation_p.G825C|POM121_ENST00000395270.1_Missense_Mutation_p.G825C|POM121_ENST00000358357.3_Missense_Mutation_p.G825C			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1090	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTCGGTGTTTGGCAGCACAAC	0.647																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2473-2475)Ggc>Tgc		POM121 transmembrane nucleoporin							13.0	13.0	13.0					7																	72413800		2190	4251	6441	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413800G>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3268G>T	7.37:g.72413800G>T	ENSP00000405562:p.Gly1090Cys					POM121_ENST00000358357.3_Missense_Mutation_p.G825C|POM121_ENST00000446813.1_Missense_Mutation_p.G825C|POM121_ENST00000434423.2_Missense_Mutation_p.G1090C|POM121_ENST00000257622.4_Missense_Mutation_p.G825C	p.G825C	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3514	+		Lung NSC(55;0.163)	1090			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2473G>T		.	.	.	.	.	.	.	.	.	.	G	6.810	0.518554	0.13005	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14516	2.52;2.5;2.52;2.5;2.66	3.01	2.11	0.27256	.	0.000000	0.40302	N	0.001137	T	0.32823	0.0842	M	0.81497	2.545	0.25404	N	0.988414	D;D	0.89917	1.0;1.0	D;D	0.71414	0.951;0.973	T	0.05146	-1.0903	10	0.87932	D	0	.	7.4984	0.27503	0.1279:0.0:0.8721:0.0	.	825;1090	A8MXF9;Q96HA1	.;P121A_HUMAN	C	825;825;825;825;1090	ENSP00000393020:G825C;ENSP00000257622:G825C;ENSP00000378687:G825C;ENSP00000351124:G825C;ENSP00000405562:G1090C	ENSP00000257622:G825C	G	+	1	0	POM121	72051736	0.998000	0.40836	0.471000	0.27229	0.034000	0.12701	3.165000	0.50778	0.591000	0.29711	0.391000	0.25812	GGC		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			19	28	1	0	1.85244e-09	1	2.15914e-09	19	28				
IGKV1-12	28940	broad.mit.edu	37	2	89339969	89339969	+	RNA	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:89339969C>A	ENST00000480492.1	-	0	149									immunoglobulin kappa variable 1-12																		CCTACAGATGCAGACACGGAA	0.478																																						ENST00000480492.1																			0																				240.0	186.0	204.0					2																	89339969		1996	4167	6163			28940							g.chr2:89339969C>A	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89339969C>A														0	149	-									RNA	SNP	ENST00000480492.1	37																																																																																						0.478	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		89	143	1	0	2.16659e-41	1	3.40464e-41	89	143				
CCDC171	203238	broad.mit.edu	37	9	15971674	15971674	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:15971674G>T	ENST00000380701.3	+	26	4149	c.3821G>T	c.(3820-3822)gGt>gTt	p.G1274V	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1274																	GACACAACTGGTATTGGGGAT	0.373																																						ENST00000380701.3																			0											c.(3820-3822)gGt>gTt		coiled-coil domain containing 171							187.0	176.0	180.0					9																	15971674		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15971674G>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3821G>T	9.37:g.15971674G>T	ENSP00000370077:p.Gly1274Val					CCDC171_ENST00000486641.2_Intron	p.G1274V	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			26	4149	+			1274					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3821G>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	6.984	0.551528	0.13374	.	.	ENSG00000164989	ENST00000380701	T	0.13778	2.56	4.56	-5.28	0.02755	.	1.534990	0.03711	N	0.250285	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29792	-1.0000	10	0.26408	T	0.33	6.0513	0.11	0.00055	0.2999:0.169:0.2319:0.2993	.	1282;1274	B7ZM22;Q6TFL3	.;CI093_HUMAN	V	1274	ENSP00000370077:G1274V	ENSP00000370077:G1274V	G	+	2	0	C9orf93	15961674	0.000000	0.05858	0.000000	0.03702	0.946000	0.59487	-0.076000	0.11412	-0.790000	0.04492	0.655000	0.94253	GGT		0.373	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		46	66	1	0	2.9001e-28	1	4.37501e-28	46	66				
NKX2-2	4821	broad.mit.edu	37	20	21494104	21494104	+	Missense_Mutation	SNP	G	G	T	rs202157567		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:21494104G>T	ENST00000377142.4	-	1	560	c.204C>A	c.(202-204)agC>agA	p.S68R	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	68					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTTGTCGCTGCTGTCGTAGA	0.677																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(202-204)agC>agA		NK2 homeobox 2							40.0	36.0	37.0					20																	21494104		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21494104G>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.204C>A	20.37:g.21494104G>T	ENSP00000366347:p.Ser68Arg						p.S68R	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			1	560	-			68						Missense_Mutation	SNP	ENST00000377142.4	37	c.204C>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111560	0.37242	.	.	ENSG00000125820	ENST00000377142	D	0.90620	-2.7	4.73	4.73	0.59995	.	0.286062	0.41097	D	0.000954	D	0.86024	0.5834	L	0.38175	1.15	0.41155	D	0.986059	B	0.02656	0.0	B	0.04013	0.001	T	0.81711	-0.0808	10	0.22109	T	0.4	.	17.3021	0.87185	0.0:0.0:1.0:0.0	.	68	O95096	NKX22_HUMAN	R	68	ENSP00000366347:S68R	ENSP00000366347:S68R	S	-	3	2	NKX2-2	21442104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.123000	0.41996	2.168000	0.68352	0.563000	0.77884	AGC		0.677	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			14	43	1	0	6.72482e-11	1	8.06979e-11	14	43				
CHIA	27159	broad.mit.edu	37	1	111862020	111862020	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:111862020C>T	ENST00000369740.1	+	11	1210	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	CHIA_ENST00000343320.6_Silent_p.G369G|CHIA_ENST00000451398.2_Silent_p.G208G|CHIA_ENST00000483391.1_Silent_p.G208G|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Silent_p.G261G|CHIA_ENST00000353665.6_Silent_p.G208G	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	369					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACTTCACTGGCACTTTCTGCA	0.512																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(1105-1107)ggC>ggT		chitinase, acidic							94.0	85.0	88.0					1																	111862020		2203	4300	6503	SO:0001819	synonymous_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111862020C>T	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1107C>T	1.37:g.111862020C>T						CHIA_ENST00000343320.6_Silent_p.G369G|CHIA_ENST00000353665.6_Silent_p.G208G|CHIA_ENST00000483391.1_Silent_p.G208G|CHIA_ENST00000451398.2_Silent_p.G208G|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Silent_p.G261G	p.G369G	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	11	1210	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	369					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	c.1107C>T	CCDS41368.1																																																																																				0.512	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			26	21	0	0	0	1	0	26	21				
CEP250	11190	broad.mit.edu	37	20	34099403	34099403	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:34099403G>T	ENST00000397527.1	+	35	7997	c.7277G>T	c.(7276-7278)gGg>gTg	p.G2426V	CEP250_ENST00000342580.4_Missense_Mutation_p.G2370V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2426					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACATCCCCAGGGCCAGTCCTG	0.627																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7276-7278)gGg>gTg		centrosomal protein 250kDa							48.0	48.0	48.0					20																	34099403		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34099403G>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7277G>T	20.37:g.34099403G>T	ENSP00000380661:p.Gly2426Val					CEP250_ENST00000342580.4_Missense_Mutation_p.G2370V	p.G2426V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7997	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2426					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7277G>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946662	0.53186	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.46063	2.88;2.88;0.88	4.75	2.67	0.31697	.	0.249590	0.28273	N	0.015943	T	0.42517	0.1206	M	0.72479	2.2	0.31685	N	0.642646	B	0.30526	0.283	B	0.35312	0.2	T	0.55471	-0.8136	10	0.72032	D	0.01	.	8.2995	0.32006	0.0836:0.2984:0.618:0.0	.	2426	Q9BV73	CP250_HUMAN	V	2426;2370;861	ENSP00000380661:G2426V;ENSP00000341541:G2370V;ENSP00000395992:G861V	ENSP00000341541:G2370V	G	+	2	0	CEP250	33562817	0.933000	0.31639	0.755000	0.31263	0.255000	0.26057	1.600000	0.36762	1.208000	0.43306	0.561000	0.74099	GGG		0.627	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		17	34	1	0	1.62849e-17	1	2.16041e-17	17	34				
NHS	4810	broad.mit.edu	37	X	17743618	17743618	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:17743618C>G	ENST00000380060.3	+	6	1667	c.1329C>G	c.(1327-1329)atC>atG	p.I443M	NHS_ENST00000398097.3_Missense_Mutation_p.I287M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	464					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAAGGAGAATCAGAGCTCAAA	0.507																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1327-1329)atC>atG		Nance-Horan syndrome (congenital cataracts and dental anomalies)							210.0	182.0	192.0					X																	17743618		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743618C>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1329C>G	X.37:g.17743618C>G	ENSP00000369400:p.Ile443Met					NHS_ENST00000398097.3_Missense_Mutation_p.I287M	p.I443M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	1667	+	Hepatocellular(33;0.183)		443					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1329C>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.931063	0.34096	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.72282	-0.59;-0.64	5.88	4.1	0.47936	.	0.044394	0.85682	D	0.000000	D	0.82724	0.5099	M	0.81497	2.545	0.46586	D	0.99911	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.82659	-0.0348	10	0.87932	D	0	-10.0143	9.8076	0.40803	0.0:0.7817:0.0:0.2183	.	464;285;287;443	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	M	443;287;285	ENSP00000369400:I443M;ENSP00000381170:I287M	ENSP00000369397:I285M	I	+	3	3	NHS	17653539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.906000	0.39887	0.608000	0.30000	-0.190000	0.12839	ATC		0.507	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		70	192	0	0	0	1	0	70	192				
DDO	8528	broad.mit.edu	37	6	110714093	110714093	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:110714093T>C	ENST00000368924.3	-	5	1010	c.995A>G	c.(994-996)tAt>tGt	p.Y332C	DDO_ENST00000368923.3_Missense_Mutation_p.Y273C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	304					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCCATGGCCATAGTGGTGGAC	0.642																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(994-996)tAt>tGt		D-aspartate oxidase							74.0	66.0	69.0					6																	110714093		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714093T>C	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.995A>G	6.37:g.110714093T>C	ENSP00000357920:p.Tyr332Cys					DDO_ENST00000368923.3_Missense_Mutation_p.Y273C|DDO_ENST00000368925.1_Missense_Mutation_p.Y304C	p.Y332C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	1010	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	304					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.995A>G	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281157	0.80692	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.43688	0.94;0.94;0.94	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84219	0.0460	10	0.87932	D	0	-20.481	16.4504	0.83984	0.0:0.0:0.0:1.0	.	273;332	Q99489-4;Q99489-3	.;.	C	332;273;304	ENSP00000357920:Y332C;ENSP00000357919:Y273C;ENSP00000357921:Y304C	ENSP00000357919:Y273C	Y	-	2	0	DDO	110820786	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	7.457000	0.80775	2.288000	0.76882	0.533000	0.62120	TAT		0.642	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			30	67	0	0	0	1	0	30	67				
XKR6	286046	broad.mit.edu	37	8	10756082	10756082	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:10756082C>A	ENST00000416569.2	-	3	1332	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	XKR6_ENST00000304437.2_Missense_Mutation_p.G157W	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	436						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGAGTCCGCCCTTCCTTGACG	0.478																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1306-1308)Ggg>Tgg		XK, Kell blood group complex subunit-related family, member 6							138.0	117.0	124.0					8																	10756082		2203	4300	6503	SO:0001583	missense	286046					integral to membrane		g.chr8:10756082C>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1306G>T	8.37:g.10756082C>A	ENSP00000416707:p.Gly436Trp					XKR6_ENST00000304437.2_Missense_Mutation_p.G157W	p.G436W	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1332	-			436					Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.1306G>T	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.26|16.26	3.071900|3.071900	0.55646|0.55646	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000304437;ENST00000416569|ENST00000382461	T;T|.	0.80566|.	-1.39;-1.39|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85440|0.85440	0.5697|0.5697	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88576|0.88576	0.3133|0.3133	10|5	0.87932|.	D|.	0|.	-5.3681|-5.3681	17.8783|17.8783	0.88831|0.88831	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	436|.	Q5GH73|.	XKR6_HUMAN|.	W|N	157;436|212	ENSP00000307120:G157W;ENSP00000416707:G436W|.	ENSP00000307120:G157W|.	G|K	-|-	1|3	0|2	XKR6|XKR6	10793492|10793492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.457000|2.457000	0.83068|0.83068	0.561000|0.561000	0.74099|0.74099	GGG|AAG		0.478	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		29	30	1	0	3.57733e-08	1	4.07075e-08	29	30				
SEC14L3	266629	broad.mit.edu	37	22	30867939	30867939	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:30867939C>A	ENST00000215812.4	-	1	97	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	SEC14L3_ENST00000415957.2_5'Flank|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'Flank|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	3						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCAACTCGGCCGCTCATGGTG	0.642																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(7-9)Ggc>Tgc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						52.0	50.0	50.0					22																	30867939		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30867939C>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.7G>T	22.37:g.30867939C>A	ENSP00000215812:p.Gly3Cys					SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	p.G3C	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN			1	97	-			3					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.7G>T	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988469	0.74589	.	.	ENSG00000100012	ENST00000215812	T	0.35421	1.31	5.94	5.94	0.96194	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76719	-0.2856	10	0.87932	D	0	-30.009	17.28	0.87126	0.0:1.0:0.0:0.0	.	3	Q9UDX4	S14L3_HUMAN	C	3	ENSP00000215812:G3C	ENSP00000215812:G3C	G	-	1	0	SEC14L3	29197939	1.000000	0.71417	0.977000	0.42913	0.379000	0.30106	6.224000	0.72265	2.826000	0.97356	0.561000	0.74099	GGC		0.642	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		26	58	1	0	4.06085e-26	1	6.0398e-26	26	58				
COL6A6	131873	broad.mit.edu	37	3	130313165	130313165	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:130313165C>A	ENST00000358511.6	+	17	4542	c.4511C>A	c.(4510-4512)gCa>gAa	p.A1504E	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1504E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1504	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCGTGGAGCAAAGGGCCTG	0.458																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(4510-4512)gCa>gAa		collagen, type VI, alpha 6							77.0	84.0	82.0					3																	130313165		1880	4096	5976	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130313165C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4511C>A	3.37:g.130313165C>A	ENSP00000351310:p.Ala1504Glu					COL6A6_ENST00000453409.2_Missense_Mutation_p.A1504E	p.A1504E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			17	4542	+			1504			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4511C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.713638	0.00706	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.94330	-3.4;-3.4	5.17	3.26	0.37387	.	0.202873	0.24695	N	0.036351	T	0.69548	0.3123	N	0.00355	-1.605	0.09310	N	1	B	0.24186	0.099	B	0.16722	0.016	T	0.67023	-0.5775	10	0.02654	T	1	.	7.2474	0.26129	0.2782:0.565:0.1567:0.0	.	1504	A6NMZ7	CO6A6_HUMAN	E	1504	ENSP00000351310:A1504E;ENSP00000399236:A1504E	ENSP00000351310:A1504E	A	+	2	0	COL6A6	131795855	0.102000	0.21896	0.099000	0.21106	0.070000	0.16714	2.058000	0.41374	2.575000	0.86900	0.650000	0.86243	GCA		0.458	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		34	40	1	0	8.16277e-20	1	1.13122e-19	34	40				
KIAA0100	9703	broad.mit.edu	37	17	26960084	26960084	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:26960084G>A	ENST00000528896.2	-	20	3755	c.3681C>T	c.(3679-3681)gtC>gtT	p.V1227V	KIAA0100_ENST00000389003.3_Silent_p.V1084V|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.V1084V|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1227						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCGCAGAGTGACACTATGGT	0.587																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(3679-3681)gtC>gtT		KIAA0100							75.0	76.0	75.0					17																	26960084		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26960084G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3681C>T	17.37:g.26960084G>A						KIAA0100_ENST00000389003.3_Silent_p.V1084V|KIAA0100_ENST00000544884.1_Silent_p.V1084V	p.V1227V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			20	3755	-	Lung NSC(42;0.00431)		1227					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.3681C>T	CCDS32595.1																																																																																				0.587	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		15	40	0	0	0	1	0	15	40				
CROCC	9696	broad.mit.edu	37	1	17263238	17263238	+	Missense_Mutation	SNP	G	G	C	rs202121748		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:17263238G>C	ENST00000375541.5	+	9	1132	c.1063G>C	c.(1063-1065)Gca>Cca	p.A355P	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)		CCGGGCCGAGGCAGCCCTGGA	0.697																																						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.(1063-1065)Gca>Cca		ciliary rootlet coiled-coil, rootletin							15.0	15.0	15.0					1																	17263238		2194	4274	6468	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.chr1:17263238G>C	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.1063G>C	1.37:g.17263238G>C	ENSP00000364691:p.Ala355Pro					CROCC_ENST00000467938.1_3'UTR	p.A355P	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)	9	1132	+		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)	355						Missense_Mutation	SNP	ENST00000375541.5	37	c.1063G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207111	0.22205	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10573	2.86	3.91	2.98	0.34508	.	.	.	.	.	T	0.13927	0.0337	L	0.38531	1.155	0.27212	N	0.959891	P;P;D	0.54207	0.955;0.904;0.965	B;B;P	0.51229	0.347;0.347;0.663	T	0.10590	-1.0623	9	0.31617	T	0.26	.	10.8238	0.46620	0.0962:0.0:0.9038:0.0	.	218;218;355	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	P	355;236	ENSP00000364691:A355P	ENSP00000364691:A355P	A	+	1	0	CROCC	17135825	1.000000	0.71417	0.064000	0.19789	0.141000	0.21300	4.821000	0.62679	0.970000	0.38263	0.462000	0.41574	GCA		0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	31	0	0	0	1	0	3	31				
WDR78	79819	broad.mit.edu	37	1	67327892	67327892	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:67327892C>A	ENST00000371026.3	-	7	1089	c.1034G>T	c.(1033-1035)aGt>aTt	p.S345I	WDR78_ENST00000371023.3_Missense_Mutation_p.S345I|WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000431318.1_Missense_Mutation_p.S91I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	345					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ATTTGCTTTACTACTTGACTC	0.338																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1033-1035)aGt>aTt		WD repeat domain 78							110.0	109.0	109.0					1																	67327892		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67327892C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1034G>T	1.37:g.67327892C>A	ENSP00000360065:p.Ser345Ile					WDR78_ENST00000371023.3_Missense_Mutation_p.S345I|WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000431318.1_Missense_Mutation_p.S91I	p.S345I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			7	1089	-			345					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1034G>T	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870614|1.870614	0.33069|0.33069	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552|ENST00000469450	T;T;T;T;T|.	0.69806|.	0.24;-0.43;-0.36;2.05;1.53|.	5.53|5.53	3.62|3.62	0.41486|0.41486	.|.	0.905482|.	0.09799|.	N|.	0.754378|.	T|.	0.27933|.	0.0688|.	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	B;B;B|.	0.33022|.	0.166;0.105;0.394|.	B;B;B|.	0.26864|.	0.071;0.03;0.074|.	T|.	0.26538|.	-1.0100|.	10|.	0.40728|.	T|.	0.16|.	-9.4175|-9.4175	6.0327|6.0327	0.19688|0.19688	0.0:0.6761:0.1571:0.1668|0.0:0.6761:0.1571:0.1668	.|.	91;345;345|.	Q5VTH9-3;A0AVI9;Q5VTH9|.	.;.;WDR78_HUMAN|.	I|Y	345;91;111;345;32|78	ENSP00000360065:S345I;ENSP00000393182:S91I;ENSP00000433682:S111I;ENSP00000360062:S345I;ENSP00000433037:S32I|.	ENSP00000360062:S345I|.	S|X	-|-	2|3	0|2	WDR78|WDR78	67100480|67100480	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.004000|0.004000	0.04260|0.04260	0.313000|0.313000	0.19415|0.19415	0.783000|0.783000	0.33636|0.33636	0.591000|0.591000	0.81541|0.81541	AGT|TAG		0.338	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		27	54	1	0	7.76418e-22	1	1.11097e-21	27	54				
TTN	7273	broad.mit.edu	37	2	179436520	179436520	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:179436520C>A	ENST00000591111.1	-	276	69640	c.69416G>T	c.(69415-69417)cGa>cTa	p.R23139L	TTN_ENST00000342175.6_Missense_Mutation_p.R15907L|TTN_ENST00000589042.1_Missense_Mutation_p.R24780L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15715L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15840L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22212L|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23139	Ig-like 118.				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)			AACATCTTCTCGGCAGGCGTC	0.418																																						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.(74338-74340)cGa>cTa		titin							119.0	121.0	121.0					2																	179436520		1923	4118	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436520C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69416G>T	2.37:g.179436520C>A	ENSP00000465570:p.Arg23139Leu					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23139L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15715L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15907L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15840L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22212L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.R24780L	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)		326	74563	-			23139			Fibronectin type-III 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74339G>T		.	.	.	.	.	.	.	.	.	.	C	16.76	3.213588	0.58452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51312	0.1667	L	0.54908	1.71	0.44539	D	0.99749	P;P;P;P	0.52842	0.956;0.956;0.956;0.956	P;P;P;P	0.55577	0.779;0.779;0.779;0.779	T	0.52480	-0.8570	9	0.87932	D	0	.	10.2142	0.43158	0.0:0.8199:0.0:0.1801	.	15715;15840;15907;23139	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22212;15715;15907;15840;15713	ENSP00000343764:R22212L;ENSP00000434586:R15715L;ENSP00000340554:R15907L;ENSP00000352154:R15840L	ENSP00000340554:R15907L	R	-	2	0	TTN	179144766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.034000	0.41145	2.890000	0.99128	0.650000	0.86243	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	84	1	0	1.00776e-21	1	1.43422e-21	46	84				
TECPR2	9895	broad.mit.edu	37	14	102901536	102901536	+	Silent	SNP	C	C	T	rs369859838		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:102901536C>T	ENST00000359520.7	+	9	2608	c.2382C>T	c.(2380-2382)ctC>ctT	p.L794L	TECPR2_ENST00000558678.1_Silent_p.L794L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	794					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCGGGCTGCTCAAGCCAGATC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18743	0.0		0.0	False		,,,				2504	0.0					ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(2380-2382)ctC>ctT		tectonin beta-propeller repeat containing 2		C	,	2,4332		0,2,2165	40.0	46.0	44.0		2382,2382	-5.6	0.7	14		44	0,8444		0,0,4222	no	coding-synonymous,coding-synonymous	TECPR2	NM_001172631.1,NM_014844.3	,	0,2,6387	TT,TC,CC		0.0,0.0461,0.0157	,	794/1268,794/1412	102901536	2,12776	2167	4222	6389	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102901536C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2382C>T	14.37:g.102901536C>T						TECPR2_ENST00000558678.1_Silent_p.L794L	p.L794L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2608	+			794					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.2382C>T	CCDS32162.1																																																																																				0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		33	64	0	0	0	1	0	33	64				
NCAM2	4685	broad.mit.edu	37	21	22664458	22664458	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr21:22664458G>T	ENST00000400546.1	+	5	765	c.516G>T	c.(514-516)caG>caT	p.Q172H	NCAM2_ENST00000284894.7_Missense_Mutation_p.Q30H|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.Q197H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	172	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAACCTGCAGATTCTCAACA	0.393																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(514-516)caG>caT		neural cell adhesion molecule 2							151.0	141.0	144.0					21																	22664458		1836	4097	5933	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22664458G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.516G>T	21.37:g.22664458G>T	ENSP00000383392:p.Gln172His					NCAM2_ENST00000535285.1_Missense_Mutation_p.Q197H|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Missense_Mutation_p.Q30H	p.Q172H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	5	765	+		Lung NSC(9;0.195)	172			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.516G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898047	0.72639	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.77358	1.66;-1.09;1.66	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.66560	2.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.962;0.994;0.997	D	0.86269	0.1660	10	0.62326	D	0.03	-11.5333	12.6857	0.56946	0.0806:0.0:0.9194:0.0	.	197;30;172	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	H	172;30;197	ENSP00000383392:Q172H;ENSP00000284894:Q30H;ENSP00000441887:Q197H	ENSP00000284894:Q30H	Q	+	3	2	NCAM2	21586329	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.624000	0.54231	2.733000	0.93635	0.655000	0.94253	CAG		0.393	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		22	66	1	0	1.22574e-08	1	1.41e-08	22	66				
CROCCP2	84809	broad.mit.edu	37	1	16946376	16946376	+	lincRNA	SNP	G	G	A	rs12086176		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:16946376G>A	ENST00000412962.1	-	0	1143				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGAGGCCCTCGTCATGCTCCT	0.657																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946376G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946376G>A														0	1143	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.657	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	34	0	0	0	1	0	3	34				
FZD7	8324	broad.mit.edu	37	2	202900296	202900296	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:202900296T>C	ENST00000286201.1	+	1	987	c.926T>C	c.(925-927)cTa>cCa	p.L309P	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	309					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGCTTCCTTCTAGAGGACCGC	0.652											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(925-927)cTa>cCa		frizzled family receptor 7							70.0	69.0	70.0					2																	202900296		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900296T>C	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.926T>C	2.37:g.202900296T>C	ENSP00000286201:p.Leu309Pro		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.L309P	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	987	+			309					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.926T>C	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628440	0.67015	.	.	ENSG00000155760	ENST00000286201	D	0.82803	-1.65	5.01	5.01	0.66863	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000007	D	0.90181	0.6931	M	0.78285	2.405	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	D	0.91485	0.5207	10	0.72032	D	0.01	.	14.9013	0.70681	0.0:0.0:0.0:1.0	.	309	O75084	FZD7_HUMAN	P	309	ENSP00000286201:L309P	ENSP00000286201:L309P	L	+	2	0	FZD7	202608541	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.138000	0.71717	2.116000	0.64780	0.460000	0.39030	CTA		0.652	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		4	153	0	0	0	1	0	4	153				
USH2A	7399	broad.mit.edu	37	1	216405295	216405295	+	Splice_Site	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:216405295C>G	ENST00000307340.3	-	14	3379	c.2993G>C	c.(2992-2994)aGa>aCa	p.R998T	USH2A_ENST00000366942.3_Splice_Site_p.R998T|USH2A_ENST00000366943.2_Splice_Site_p.R998T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	998	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAGATGTACCTTCCAGTCTG	0.363										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.e14+1		Usher syndrome 2A (autosomal recessive, mild)							115.0	115.0	115.0					1																	216405295		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216405295C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2993+1G>C	1.37:g.216405295C>G		HNSCC(13;0.011)				USH2A_ENST00000366942.3_Splice_Site_p.R998_splice|USH2A_ENST00000307340.3_Splice_Site_p.R998_splice	p.R998_splice			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	14	3379	-			998			Laminin EGF-like 9.		Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37	c.2993_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270053	0.40194	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.18960	2.63;2.63;2.18	5.46	5.46	0.80206	EGF-like, laminin (2);	0.000000	0.47455	U	0.000234	T	0.27765	0.0683	L	0.56340	1.77	0.58432	D	0.999998	P;P	0.40282	0.708;0.711	B;B	0.41412	0.227;0.356	T	0.01280	-1.1397	9	.	.	.	.	19.3193	0.94231	0.0:1.0:0.0:0.0	.	998;998	O75445-2;O75445	.;USH2A_HUMAN	T	998	ENSP00000305941:R998T;ENSP00000355910:R998T;ENSP00000355909:R998T	.	R	-	2	0	USH2A	214471918	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.333000	0.65917	2.570000	0.86706	0.650000	0.86243	AGA		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Missense_Mutation	39	94	0	0	0	1	0	39	94				
ZNF598	90850	broad.mit.edu	37	16	2049841	2049841	+	Missense_Mutation	SNP	G	G	A	rs147389225		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:2049841G>A	ENST00000563630.1	-	9	1786	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	ZNF598_ENST00000562103.1_Missense_Mutation_p.T515M|ZNF598_ENST00000431526.1_Missense_Mutation_p.T570M|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	570							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GACGGAGCCCGTGGGGCGTGT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		14950	0.0		0.001	False		,,,				2504	0.0					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1543-1545)aCg>aTg		zinc finger protein 598		G	MET/THR	1,3855		0,1,1927	12.0	15.0	14.0		1711	-2.0	0.0	16	dbSNP_134	14	0,8226		0,0,4113	no	missense	ZNF598	NM_178167.2	81	0,1,6040	AA,AG,GG		0.0,0.0259,0.0083	possibly-damaging	570/905	2049841	1,12081	1928	4113	6041	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2049841G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1544C>T	16.37:g.2049841G>A	ENSP00000455882:p.Thr515Met					ZNF598_ENST00000562103.1_Missense_Mutation_p.T515M|ZNF598_ENST00000431526.1_Missense_Mutation_p.T570M	p.T515M			Q86UK7	ZN598_HUMAN			9	1786	-			570					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.1544C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.029	-1.349389	0.01266	2.59E-4	0.0	ENSG00000167962	ENST00000431526	T	0.15256	2.44	4.95	-2.05	0.07321	.	0.224127	0.52532	D	0.000074	T	0.07052	0.0179	N	0.17312	0.475	0.09310	N	1	B	0.18461	0.028	B	0.15484	0.013	T	0.34428	-0.9829	10	0.17832	T	0.49	-6.966	5.7347	0.18059	0.5876:0.1596:0.2528:0.0	.	570	Q86UK7	ZN598_HUMAN	M	570	ENSP00000411409:T570M	ENSP00000411409:T570M	T	-	2	0	ZNF598	1989842	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.466000	0.35310	-0.176000	0.10707	-0.827000	0.03088	ACG		0.662	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		6	18	0	0	0	1	0	6	18				
CMYA5	202333	broad.mit.edu	37	5	79031424	79031424	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:79031424A>C	ENST00000446378.2	+	2	6867	c.6836A>C	c.(6835-6837)aAa>aCa	p.K2279T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2279					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAACAGCCAAAATTCATTTCT	0.358																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6835-6837)aAa>aCa		cardiomyopathy associated 5							66.0	68.0	68.0					5																	79031424		1792	4063	5855	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031424A>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6836A>C	5.37:g.79031424A>C	ENSP00000394770:p.Lys2279Thr						p.K2279T	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6867	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2279					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6836A>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205661	0.09704	.	.	ENSG00000164309	ENST00000446378	T	0.19806	2.12	5.83	0.299	0.15771	.	1.262610	0.05274	N	0.518129	T	0.24851	0.0603	M	0.65975	2.015	0.09310	N	1	B	0.24721	0.11	B	0.23150	0.044	T	0.36286	-0.9754	10	0.72032	D	0.01	.	7.3689	0.26790	0.5178:0.4053:0.0769:0.0	.	2279	Q8N3K9	CMYA5_HUMAN	T	2279	ENSP00000394770:K2279T	ENSP00000394770:K2279T	K	+	2	0	CMYA5	79067180	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.685000	0.25378	-0.155000	0.11098	0.528000	0.53228	AAA		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		24	53	0	0	0	1	0	24	53				
PRR23B	389151	broad.mit.edu	37	3	138739295	138739295	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:138739295C>G	ENST00000329447.5	-	1	473	c.209G>C	c.(208-210)cGt>cCt	p.R70P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	70										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGGCACACGCAGGGCACA	0.706																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(208-210)cGt>cCt		proline rich 23B							21.0	19.0	20.0					3																	138739295		2203	4297	6500	SO:0001583	missense	389151							g.chr3:138739295C>G	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.209G>C	3.37:g.138739295C>G	ENSP00000328768:p.Arg70Pro					MRPS22_ENST00000495075.1_Intron	p.R70P	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	473	-			70					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.209G>C	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847207	0.32606	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.15	1.83	0.25207	.	1.768580	0.03219	N	0.177240	T	0.37945	0.1022	L	0.47716	1.5	0.09310	N	1	P	0.34724	0.465	B	0.34242	0.178	T	0.32955	-0.9887	9	0.62326	D	0.03	.	5.083	0.14666	0.0:0.1437:0.0:0.8563	.	70	Q6ZRT6	PR23B_HUMAN	P	70	.	ENSP00000328768:R70P	R	-	2	0	PRR23B	140221985	0.502000	0.26107	0.002000	0.10522	0.011000	0.07611	0.802000	0.27069	0.580000	0.29522	-0.658000	0.03865	CGT		0.706	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		14	21	0	0	0	1	0	14	21				
DMD	1756	broad.mit.edu	37	X	32472928	32472928	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:32472928A>T	ENST00000357033.4	-	26	3660	c.3454T>A	c.(3454-3456)Ttg>Atg	p.L1152M	DMD_ENST00000378677.2_Missense_Mutation_p.L1148M	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1152					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTCCCTTCAAGGCCTCCTTT	0.368																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(3454-3456)Ttg>Atg		dystrophin							108.0	95.0	99.0					X																	32472928		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32472928A>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3454T>A	X.37:g.32472928A>T	ENSP00000354923:p.Leu1152Met					DMD_ENST00000378677.2_Missense_Mutation_p.L1148M	p.L1152M	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			26	3660	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1152					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3454T>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575547	0.65878	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.80738	-1.41;-1.41	5.25	1.4	0.22301	.	0.000000	0.29799	U	0.011163	D	0.86506	0.5949	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.976;0.988;0.986	D	0.84292	0.0500	10	0.72032	D	0.01	.	8.1787	0.31298	0.5058:0.0:0.4942:0.0	.	1144;1152;1148	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	M	1144;1148;1152;1152;1029	ENSP00000367948:L1148M;ENSP00000354923:L1152M	ENSP00000354923:L1152M	L	-	1	2	DMD	32382849	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	2.254000	0.43214	0.163000	0.19507	0.481000	0.45027	TTG		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		14	61	0	0	0	1	0	14	61				
HPS4	89781	broad.mit.edu	37	22	26860607	26860607	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:26860607C>T	ENST00000398145.2	-	11	1605	c.989G>A	c.(988-990)gGc>gAc	p.G330D	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.G330D|HPS4_ENST00000398141.1_Missense_Mutation_p.G343D|HPS4_ENST00000402105.3_Missense_Mutation_p.G325D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	330					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGATCATGGCCAGACAAGCA	0.592									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(988-990)gGc>gAc		Hermansky-Pudlak syndrome 4							86.0	80.0	82.0					22																	26860607		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860607C>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.989G>A	22.37:g.26860607C>T	ENSP00000381213:p.Gly330Asp					HPS4_ENST00000402105.3_Missense_Mutation_p.G325D|HPS4_ENST00000398141.1_Missense_Mutation_p.G343D|HPS4_ENST00000336873.5_Missense_Mutation_p.G330D	p.G330D	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	1605	-			330					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.989G>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277085	0.23307	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.55413	1.51;1.51;1.51;1.51;0.52	4.42	-3.42	0.04825	.	1.200240	0.05838	N	0.618772	T	0.39036	0.1063	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B	0.23540	0.008;0.033;0.008;0.033;0.087;0.008	B;B;B;B;B;B	0.25759	0.015;0.04;0.015;0.04;0.063;0.015	T	0.26360	-1.0105	10	0.35671	T	0.21	-0.9837	4.5727	0.12217	0.1549:0.349:0.0:0.4961	.	330;330;330;330;343;325	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	330;343;325;330;348;348	ENSP00000381213:G330D;ENSP00000381210:G343D;ENSP00000384185:G325D;ENSP00000338457:G330D;ENSP00000415081:G348D	ENSP00000325840:G348D	G	-	2	0	HPS4	25190607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.821000	0.04452	-0.780000	0.04553	-0.182000	0.12963	GGC		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		27	71	0	0	0	1	0	27	71				
CROT	54677	broad.mit.edu	37	7	86998753	86998753	+	Silent	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:86998753T>C	ENST00000331536.3	+	7	794	c.609T>C	c.(607-609)ttT>ttC	p.F203F	CROT_ENST00000442291.1_Silent_p.F203F|CROT_ENST00000419147.2_Silent_p.F231F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	203					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CTTTTGTCTTTGATGTAATAC	0.433																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(607-609)ttT>ttC		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						218.0	203.0	208.0					7																	86998753		2203	4300	6503	SO:0001819	synonymous_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86998753T>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.609T>C	7.37:g.86998753T>C						CROT_ENST00000442291.1_Silent_p.F203F|CROT_ENST00000419147.2_Silent_p.F231F	p.F203F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			7	794	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		203					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	c.609T>C	CCDS5604.1																																																																																				0.433	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		51	104	0	0	0	1	0	51	104				
OFD1	8481	broad.mit.edu	37	X	13774855	13774855	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:13774855G>C	ENST00000340096.6	+	13	1707	c.1380G>C	c.(1378-1380)gaG>gaC	p.E460D	OFD1_ENST00000380567.1_Missense_Mutation_p.E320D|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.E420D	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	460					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AACTGGAAGAGAGTAGAAATG	0.328																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(958-960)gaG>gaC		oral-facial-digital syndrome 1							101.0	105.0	104.0					X																	13774855		2203	4299	6502	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13774855G>C	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1380G>C	X.37:g.13774855G>C	ENSP00000344314:p.Glu460Asp					OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.E460D|OFD1_ENST00000380550.3_Missense_Mutation_p.E420D	p.E320D			O75665	OFD1_HUMAN			14	1832	+			460					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.960G>C	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	10.22	1.289810	0.23478	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.96365	-2.22;-3.99;-1.97	5.24	-1.48	0.08745	.	0.271863	0.40222	N	0.001152	D	0.91112	0.7202	L	0.34521	1.04	0.58432	D	0.999998	B;B;B;B;B	0.31893	0.279;0.099;0.345;0.096;0.122	B;B;B;B;B	0.31686	0.088;0.041;0.134;0.051;0.056	T	0.79938	-0.1592	10	0.30078	T	0.28	-3.5458	10.9414	0.47275	0.1326:0.5656:0.3018:0.0	.	460;420;128;320;460	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	D	420;460;320;283	ENSP00000369923:E420D;ENSP00000344314:E460D;ENSP00000369941:E320D	ENSP00000344314:E460D	E	+	3	2	OFD1	13684776	0.657000	0.27393	0.007000	0.13788	0.865000	0.49528	0.705000	0.25675	-0.758000	0.04690	-0.208000	0.12717	GAG		0.328	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		56	90	0	0	0	1	0	56	90				
NAP1L3	4675	broad.mit.edu	37	X	92928043	92928043	+	Silent	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:92928043C>G	ENST00000373079.3	-	1	524	c.261G>C	c.(259-261)gcG>gcC	p.A87A	NAP1L3_ENST00000475430.2_Silent_p.A80A|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	87					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GGGCCCGCCGCGCCCTTCTGG	0.577																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(259-261)gcG>gcC		nucleosome assembly protein 1-like 3							19.0	21.0	20.0					X																	92928043		2195	4279	6474	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928043C>G		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.261G>C	X.37:g.92928043C>G						NAP1L3_ENST00000475430.1_5'UTR	p.A87A	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	524	-			87					B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.261G>C	CCDS14465.1																																																																																				0.577	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		4	25	0	0	0	1	0	4	25				
SLC30A9	10463	broad.mit.edu	37	4	41992714	41992714	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:41992714T>G	ENST00000264451.7	+	1	226	c.46T>G	c.(46-48)Tcc>Gcc	p.S16A	RP11-814H16.2_ENST00000608029.1_lincRNA	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	16					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTAGCTGGTCCTCCCTGTG	0.716																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(46-48)Tcc>Gcc		solute carrier family 30 (zinc transporter), member 9							21.0	22.0	21.0					4																	41992714		2191	4289	6480	SO:0001583	missense	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:41992714T>G	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.46T>G	4.37:g.41992714T>G	ENSP00000264451:p.Ser16Ala						p.S16A	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			1	226	+			16					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	c.46T>G	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	T	8.850	0.944451	0.18356	.	.	ENSG00000014824	ENST00000264451	T	0.21734	1.99	4.67	-1.06	0.10002	.	0.715620	0.13882	N	0.356249	T	0.08582	0.0213	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.38351	-0.9665	10	0.06236	T	0.91	-2.1478	12.3148	0.54948	0.0:0.0:0.6489:0.3511	.	16	Q6PML9	ZNT9_HUMAN	A	16	ENSP00000264451:S16A	ENSP00000264451:S16A	S	+	1	0	SLC30A9	41687471	0.984000	0.35163	0.425000	0.26659	0.019000	0.09904	0.298000	0.19120	-0.299000	0.08909	-0.488000	0.04728	TCC		0.716	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			17	30	0	0	0	1	0	17	30				
CCNH	902	broad.mit.edu	37	5	86690840	86690840	+	Intron	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:86690840C>T	ENST00000256897.4	-	8	1158				CCNH_ENST00000508855.1_Missense_Mutation_p.M244I|CCNH_ENST00000504878.1_Intron	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H						7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		ACTTAGAGTTCATCTTTGGAG	0.328								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000508855.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15						c.(730-732)atG>atA	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	cyclin H							152.0	164.0	160.0					5																	86690840		2203	4298	6501	SO:0001627	intron_variant	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86690840C>T	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.933+20G>A	5.37:g.86690840C>T						CCNH_ENST00000256897.4_Intron|CCNH_ENST00000504878.1_Intron	p.M244I			P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	7	784	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	0					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.732G>A	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	C	7.311	0.614961	0.14129	.	.	ENSG00000134480	ENST00000508855	T	0.28454	1.61	4.27	-2.87	0.05700	.	.	.	.	.	T	0.19406	0.0466	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23154	-1.0196	8	0.59425	D	0.04	.	5.6533	0.17629	0.0:0.2419:0.1601:0.598	.	265	E9PDB6	.	I	244	ENSP00000426454:M244I	ENSP00000426454:M244I	M	-	3	0	CCNH	86726596	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.405000	0.07196	-0.804000	0.04410	-0.252000	0.11476	ATG		0.328	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		46	63	0	0	0	1	0	46	63				
FAT1	2195	broad.mit.edu	37	4	187521515	187521515	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:187521515C>A	ENST00000441802.2	-	22	11850		c.e22-1		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						CATGATGAATCTAGGATAAAA	0.468										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.e22-1		FAT atypical cadherin 1							37.0	34.0	35.0					4																	187521515		1961	4134	6095	SO:0001630	splice_region_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.chr4:187521515C>A	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.11641-1G>T	4.37:g.187521515C>A		HNSCC(5;0.00058)						NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	11850	-									Splice_Site	SNP	ENST00000441802.2	37		CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655236	0.67472	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7161	0.91677	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187758509	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	7.096000	0.76960	2.726000	0.93360	0.655000	0.94253	.		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	8	7	1	0	0.000274275	1	0.000287907	8	7				
FAM71F1	84691	broad.mit.edu	37	7	128355704	128355704	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:128355704T>A	ENST00000315184.5	+	1	262	c.209T>A	c.(208-210)cTg>cAg	p.L70Q	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	70										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAATTCAACCTGTTTCTTGAC	0.527																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(208-210)cTg>cAg		family with sequence similarity 71, member F1							79.0	74.0	76.0					7																	128355704		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128355704T>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.209T>A	7.37:g.128355704T>A	ENSP00000326652:p.Leu70Gln					FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron	p.L70Q	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			1	262	+			70					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.209T>A	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855330	0.71719	.	.	ENSG00000135248	ENST00000315184	T	0.08282	3.11	5.38	5.38	0.77491	.	0.000000	0.43579	D	0.000541	T	0.21103	0.0508	L	0.48362	1.52	0.35427	D	0.793734	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.09164	-1.0687	10	0.52906	T	0.07	-11.2253	11.7122	0.51630	0.0:0.0:0.0:1.0	.	70;70	Q96KD3-2;Q96KD3	.;F71F1_HUMAN	Q	70	ENSP00000326652:L70Q	ENSP00000326652:L70Q	L	+	2	0	FAM71F1	128142940	0.997000	0.39634	0.995000	0.50966	0.908000	0.53690	3.940000	0.56599	2.261000	0.74972	0.533000	0.62120	CTG		0.527	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		25	58	0	0	0	1	0	25	58				
ATAD2	29028	broad.mit.edu	37	8	124382135	124382135	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:124382135C>T	ENST00000287394.5	-	7	964	c.857G>A	c.(856-858)gGa>gAa	p.G286E	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	286					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ctcttcttctccatcttcttc	0.368																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(856-858)gGa>gAa		ATPase family, AAA domain containing 2							291.0	229.0	250.0					8																	124382135		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382135C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.857G>A	8.37:g.124382135C>T	ENSP00000287394:p.Gly286Glu					ATAD2_ENST00000521903.1_5'UTR	p.G286E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	964	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		286					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.857G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	0.236	-1.017601	0.02078	.	.	ENSG00000156802	ENST00000287394	T	0.15139	2.45	5.09	1.17	0.20885	.	1.609150	0.04200	N	0.329884	T	0.07638	0.0192	N	0.08118	0	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.18561	0.022;0.008	T	0.48007	-0.9072	10	0.02654	T	1	-2.0775	4.9413	0.13967	0.1438:0.5543:0.0:0.3019	.	116;286	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	E	286	ENSP00000287394:G286E	ENSP00000287394:G286E	G	-	2	0	ATAD2	124451316	0.993000	0.37304	0.994000	0.49952	0.540000	0.34992	1.049000	0.30392	0.245000	0.21373	0.561000	0.74099	GGA		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		5	67	0	0	0	1	0	5	67				
PCDH9	5101	broad.mit.edu	37	13	67800073	67800073	+	Missense_Mutation	SNP	C	C	G	rs375314712		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr13:67800073C>G	ENST00000377865.2	-	1	2634	c.2500G>C	c.(2500-2502)Gtt>Ctt	p.V834L	PCDH9_ENST00000377861.3_Missense_Mutation_p.V834L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V834L|PCDH9_ENST00000544246.1_Missense_Mutation_p.V834L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V834L			Q9HC56	PCDH9_HUMAN	protocadherin 9	834					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGCACCAGAACGGTGACGAAG	0.502																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2500-2502)Gtt>Ctt		protocadherin 9							177.0	158.0	164.0					13																	67800073		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800073C>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2500G>C	13.37:g.67800073C>G	ENSP00000367096:p.Val834Leu					PCDH9_ENST00000377865.2_Missense_Mutation_p.V834L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V834L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V834L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V834L	p.V834L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3191	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	834					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2500G>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748354	0.69533	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.93	5.93	0.95920	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	L	0.52011	1.625	0.80722	D	1	P;P;P;P	0.52170	0.951;0.789;0.939;0.951	P;P;P;P	0.54629	0.757;0.471;0.643;0.757	T	0.47586	-0.9106	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	834;834;834;834	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	L	834	ENSP00000442186:V834L;ENSP00000367096:V834L;ENSP00000401699:V834L;ENSP00000332060:V834L;ENSP00000367092:V834L	ENSP00000332060:V834L	V	-	1	0	PCDH9	66698074	1.000000	0.71417	0.886000	0.34754	0.966000	0.64601	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GTT		0.502	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		34	41	0	0	0	1	0	34	41				
TRPC5	7224	broad.mit.edu	37	X	111078166	111078166	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:111078166A>G	ENST00000262839.2	-	7	2797	c.1879T>C	c.(1879-1881)Tcc>Ccc	p.S627P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	627					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCTGATAGGAGTTGTTCATC	0.443																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1879-1881)Tcc>Ccc		transient receptor potential cation channel, subfamily C, member 5							248.0	195.0	213.0					X																	111078166		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078166A>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1879T>C	X.37:g.111078166A>G	ENSP00000262839:p.Ser627Pro						p.S627P	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			7	2797	-			627					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1879T>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707492	0.89018	.	.	ENSG00000072315	ENST00000262839	D	0.87887	-2.31	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.95475	0.8555	10	0.87932	D	0	-4.7851	14.8781	0.70510	1.0:0.0:0.0:0.0	.	628;627	Q59G51;Q9UL62	.;TRPC5_HUMAN	P	627	ENSP00000262839:S627P	ENSP00000262839:S627P	S	-	1	0	TRPC5	110964822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	1.895000	0.54865	0.441000	0.28932	TCC		0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		55	152	0	0	0	1	0	55	152				
SEMA5B	54437	broad.mit.edu	37	3	122646772	122646772	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:122646772C>T	ENST00000357599.3	-	8	1101	c.715G>A	c.(715-717)Gct>Act	p.A239T	SEMA5B_ENST00000195173.4_Missense_Mutation_p.A239T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A293T|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	239	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GAGATGACAGCTGTGGAGTTG	0.627																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(715-717)Gct>Act		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							98.0	93.0	95.0					3																	122646772		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646772C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.715G>A	3.37:g.122646772C>T	ENSP00000350215:p.Ala239Thr					SEMA5B_ENST00000451055.2_Missense_Mutation_p.A293T|SEMA5B_ENST00000357599.3_Missense_Mutation_p.A239T	p.A239T			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	1018	-			239			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.715G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925949	0.92319	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.053469	0.85682	D	0.000000	T	0.34019	0.0883	M	0.86864	2.845	0.51767	D	0.999932	P;P;P	0.52577	0.954;0.744;0.911	P;P;P	0.61003	0.812;0.819;0.882	T	0.05338	-1.0891	10	0.87932	D	0	.	12.1868	0.54243	0.0:0.9236:0.0:0.0764	.	181;239;239	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	T	239;239;181;293;239	ENSP00000350215:A239T;ENSP00000195173:A239T;ENSP00000389588:A293T;ENSP00000377208:A239T	ENSP00000195173:A239T	A	-	1	0	SEMA5B	124129462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.242000	0.65389	2.941000	0.99782	0.655000	0.94253	GCT		0.627	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		25	74	0	0	0	1	0	25	74				
CUL4B	8450	broad.mit.edu	37	X	119669722	119669722	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:119669722G>C	ENST00000404115.3	-	18	2578	c.2177C>G	c.(2176-2178)aCc>aGc	p.T726S	CUL4B_ENST00000336592.6_Missense_Mutation_p.T713S|CUL4B_ENST00000371322.5_Missense_Mutation_p.T708S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	726					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTGTCCTAGGGTTGACTGCCA	0.348																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2122-2124)aCc>aGc		cullin 4B							155.0	154.0	154.0					X																	119669722		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119669722G>C	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2177C>G	X.37:g.119669722G>C	ENSP00000384109:p.Thr726Ser					CUL4B_ENST00000336592.6_Missense_Mutation_p.T713S|CUL4B_ENST00000404115.3_Missense_Mutation_p.T726S	p.T708S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			16	2184	-			726					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2123C>G	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	8.922	0.961422	0.18583	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.72282	-0.64;-0.64;-0.64	5.79	5.79	0.91817	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	N	0.05441	-0.05	0.80722	D	1	B;B;B	0.15141	0.0;0.012;0.009	B;B;B	0.18561	0.0;0.022;0.009	T	0.49707	-0.8911	9	.	.	.	-10.3001	17.89	0.88869	0.0:0.0:1.0:0.0	.	530;726;708	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	S	708;713;726	ENSP00000360373:T708S;ENSP00000338919:T713S;ENSP00000384109:T726S	.	T	-	2	0	CUL4B	119553750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.701000	0.84566	2.445000	0.82738	0.583000	0.79449	ACC		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		40	129	0	0	0	1	0	40	129				
ALS2	57679	broad.mit.edu	37	2	202626021	202626021	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:202626021G>A	ENST00000264276.6	-	4	1068	c.696C>T	c.(694-696)tgC>tgT	p.C232C	ALS2_ENST00000467448.1_Silent_p.C232C|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	232					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGCACTGGTTGCATCGTTCTG	0.493																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(694-696)tgC>tgT		amyotrophic lateral sclerosis 2 (juvenile)							111.0	111.0	111.0					2																	202626021		2048	4199	6247	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626021G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.696C>T	2.37:g.202626021G>A						ALS2_ENST00000467448.1_Silent_p.C232C	p.C232C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	1068	-			232					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.696C>T	CCDS42800.1																																																																																				0.493	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		4	89	0	0	0	1	0	4	89				
NR1H2	7376	broad.mit.edu	37	19	50881478	50881478	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:50881478A>G	ENST00000253727.5	+	5	489	c.254A>G	c.(253-255)gAg>gGg	p.E85G	NR1H2_ENST00000598168.1_Missense_Mutation_p.E85G|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.E85G|NR1H2_ENST00000599105.1_Missense_Mutation_p.E85G	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	85					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGGGCCACGAGCTTTGCCGT	0.622																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(253-255)gAg>gGg		nuclear receptor subfamily 1, group H, member 2							91.0	111.0	104.0					19																	50881478		2183	4296	6479	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881478A>G	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.254A>G	19.37:g.50881478A>G	ENSP00000253727:p.Glu85Gly					NR1H2_ENST00000593926.1_Missense_Mutation_p.E85G|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Missense_Mutation_p.E85G|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.E85G	p.E85G	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	489	+		all_neural(266;0.057)	85					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.254A>G	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084350	0.76642	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.92647	-3.08	4.74	3.7	0.42460	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.64402	D	0.000010	D	0.95818	0.8639	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95373	0.8466	10	0.87932	D	0	.	10.0544	0.42237	0.8487:0.0:0.0:0.1512	.	85;85	P55055;F1D8P7	NR1H2_HUMAN;.	G	85	ENSP00000253727:E85G	ENSP00000253727:E85G	E	+	2	0	NR1H2	55573290	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	8.705000	0.91357	0.917000	0.36895	0.459000	0.35465	GAG		0.622	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			73	194	0	0	0	1	0	73	194				
LRRTM4	80059	broad.mit.edu	37	2	77745550	77745550	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:77745550T>A	ENST00000409093.1	-	3	1781	c.1445A>T	c.(1444-1446)cAg>cTg	p.Q482L	LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q483L|LRRTM4_ENST00000409088.3_Missense_Mutation_p.Q482L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q483L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q482L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	482					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATAATACTCCTGTAAAGGGGA	0.478																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1444-1446)cAg>cTg		leucine rich repeat transmembrane neuronal 4							90.0	88.0	89.0					2																	77745550		1864	4107	5971	SO:0001583	missense	80059					integral to membrane		g.chr2:77745550T>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1445A>T	2.37:g.77745550T>A	ENSP00000386357:p.Gln482Leu					LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q482L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q483L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q483L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q482L	p.Q482L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1859	-			482					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1445A>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955735	0.53293	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.997;0.999;0.997	D	0.87350	0.2337	10	0.87932	D	0	.	14.7537	0.69546	0.0:0.0:0.0:1.0	.	483;482;482	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	L	483;482;482;482;483	ENSP00000387228:Q483L;ENSP00000387297:Q482L;ENSP00000386357:Q482L;ENSP00000386236:Q482L;ENSP00000386286:Q483L	ENSP00000386236:Q482L	Q	-	2	0	LRRTM4	77599058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.186000	0.72026	2.156000	0.67533	0.533000	0.62120	CAG		0.478	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		18	30	0	0	0	1	0	18	30				
REEP2	51308	broad.mit.edu	37	5	137781192	137781192	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:137781192A>G	ENST00000254901.5	+	7	717	c.595A>G	c.(595-597)Aac>Gac	p.N199D	REEP2_ENST00000506158.1_Missense_Mutation_p.N161D|REEP2_ENST00000378339.2_Missense_Mutation_p.N201D	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	199					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTCCAGCACAAACCCGGCAGA	0.577																																						ENST00000378339.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(601-603)Aac>Gac		receptor accessory protein 2							53.0	59.0	57.0					5																	137781192		2203	4300	6503	SO:0001583	missense	51308					integral to membrane		g.chr5:137781192A>G	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.595A>G	5.37:g.137781192A>G	ENSP00000254901:p.Asn199Asp					REEP2_ENST00000254901.5_Missense_Mutation_p.N199D|REEP2_ENST00000506158.1_Missense_Mutation_p.N161D	p.N201D	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		7	793	+			199					Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	c.601A>G	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	A	2.516	-0.311879	0.05422	.	.	ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158	D;D;T	0.85955	-2.03;-2.05;-1.22	5.14	5.14	0.70334	.	1.507870	0.03357	N	0.197056	T	0.69913	0.3164	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60606	-0.7230	10	0.13470	T	0.59	-8.7459	7.6469	0.28325	0.9046:0.0:0.0954:0.0	.	201;199	A8K3D2;Q9BRK0	.;REEP2_HUMAN	D	201;199;161	ENSP00000367590:N201D;ENSP00000254901:N199D;ENSP00000422530:N161D	ENSP00000254901:N199D	N	+	1	0	REEP2	137809091	0.033000	0.19621	0.003000	0.11579	0.004000	0.04260	2.984000	0.49353	1.928000	0.55862	0.533000	0.62120	AAC		0.577	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		21	45	0	0	0	1	0	21	45				
GABRG1	2565	broad.mit.edu	37	4	46125926	46125926	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:46125926C>A	ENST00000295452.4	-	1	172	c.5G>T	c.(4-6)gGt>gTt	p.G2V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	2					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCAAAGGACCCATCGGAAT	0.507																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4-6)gGt>gTt		gamma-aminobutyric acid (GABA) A receptor, gamma 1							67.0	68.0	68.0					4																	46125926		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46125926C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.5G>T	4.37:g.46125926C>A	ENSP00000295452:p.Gly2Val						p.G2V	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	1	172	-			2					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.5G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499377	0.26861	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.67345	-0.26	4.88	2.19	0.27852	.	0.219510	0.31660	N	0.007263	T	0.46444	0.1393	N	0.22421	0.69	0.46981	D	0.999272	B	0.29432	0.244	B	0.28709	0.093	T	0.43163	-0.9408	10	0.87932	D	0	.	4.5332	0.12015	0.0:0.6195:0.1851:0.1954	.	2	Q8N1C3	GBRG1_HUMAN	V	2	ENSP00000295452:G2V	ENSP00000295452:G2V	G	-	2	0	GABRG1	45820683	1.000000	0.71417	0.995000	0.50966	0.098000	0.18820	1.324000	0.33712	0.774000	0.33427	-1.087000	0.02190	GGT		0.507	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		10	36	1	0	3.86212e-05	1	4.12793e-05	10	36				
MUC21	394263	broad.mit.edu	37	6	30954218	30954218	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:30954218C>G	ENST00000376296.3	+	2	507	c.266C>G	c.(265-267)aCa>aGa	p.T89R	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	89	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGGATCAGCACAGCCACCAAC	0.577																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(265-267)aCa>aGa		mucin 21, cell surface associated							215.0	185.0	195.0					6																	30954218		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954218C>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.266C>G	6.37:g.30954218C>G	ENSP00000365473:p.Thr89Arg					MUC21_ENST00000486149.2_5'UTR	p.T89R	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	507	+			89			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.266C>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726364	0.30593	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.11385	2.78	2.71	0.67	0.17923	.	.	.	.	.	T	0.07413	0.0187	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.66979	0.948	T	0.32107	-0.9919	8	.	.	.	.	10.0233	0.42057	0.0:0.6051:0.3949:0.0	.	89	Q5SSG8	MUC21_HUMAN	R	89	ENSP00000365473:T89R	.	T	+	2	0	MUC21	31062197	0.000000	0.05858	0.001000	0.08648	0.184000	0.23303	0.135000	0.15952	0.010000	0.14839	0.485000	0.47835	ACA		0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		66	175	0	0	0	1	0	66	175				
TACR1	6869	broad.mit.edu	37	2	75276738	75276738	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:75276738A>C	ENST00000305249.5	-	5	1810	c.1045T>G	c.(1045-1047)Tac>Gac	p.Y349D		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	349					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTGACTTTGTACACACTGCCC	0.632																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(1045-1047)Tac>Gac		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						66.0	69.0	68.0					2																	75276738		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75276738A>C	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.1045T>G	2.37:g.75276738A>C	ENSP00000303522:p.Tyr349Asp						p.Y349D	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			5	1810	-			349					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.1045T>G	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502608	0.44455	.	.	ENSG00000115353	ENST00000305249	T	0.70516	-0.49	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.75615	2.305	0.80722	D	1	B	0.19200	0.034	B	0.18871	0.023	T	0.69022	-0.5255	10	0.48119	T	0.1	.	12.3644	0.55221	1.0:0.0:0.0:0.0	.	349	P25103	NK1R_HUMAN	D	349	ENSP00000303522:Y349D	ENSP00000303522:Y349D	Y	-	1	0	TACR1	75130246	1.000000	0.71417	0.641000	0.29422	0.514000	0.34195	8.676000	0.91199	2.023000	0.59567	0.460000	0.39030	TAC		0.632	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		27	52	0	0	0	1	0	27	52				
UBE3A	7337	broad.mit.edu	37	15	25650642	25650642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:25650642C>A	ENST00000397954.2	-	2	36	c.37G>T	c.(37-39)Gaa>Taa	p.E13*	UBE3A_ENST00000438097.1_5'UTR|UBE3A_ENST00000428984.2_5'UTR|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Nonsense_Mutation_p.E10*|UBE3A_ENST00000566215.1_5'UTR			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	13					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GACTGAGGTTCTCCTGATCTG	0.348																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(28-30)Gaa>Taa		ubiquitin protein ligase E3A							131.0	121.0	124.0					15																	25650642		2203	4300	6503	SO:0001587	stop_gained	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25650642C>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.37G>T	15.37:g.25650642C>A	ENSP00000381045:p.Glu13*					SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Nonsense_Mutation_p.E13*|UBE3A_ENST00000438097.1_5'UTR|UBE3A_ENST00000428984.2_5'UTR|UBE3A_ENST00000566215.1_5'UTR	p.E10*	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	684	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	13					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Nonsense_Mutation	SNP	ENST00000397954.2	37	c.28G>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	37	6.346114	0.97494	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954	.	.	.	5.79	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	12.8746	0.57984	0.0:0.9241:0.0:0.0759	.	.	.	.	X	10;10;13	.	ENSP00000232165:E10X	E	-	1	0	UBE3A	23201735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.225000	0.51246	1.452000	0.47756	0.655000	0.94253	GAA		0.348	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		47	79	1	0	5.34276e-22	1	7.66569e-22	47	79				
IVNS1ABP	10625	broad.mit.edu	37	1	185278522	185278522	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:185278522C>A	ENST00000367498.3	-	3	726	c.104G>T	c.(103-105)cGa>cTa	p.R35L	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.R35L|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	35	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TACCTGAAGTCGAACATCACA	0.294																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(103-105)cGa>cTa		influenza virus NS1A binding protein							60.0	63.0	62.0					1																	185278522		2202	4299	6501	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185278522C>A	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.104G>T	1.37:g.185278522C>A	ENSP00000356468:p.Arg35Leu					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.R35L	p.R35L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			3	726	-			35			BTB.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.104G>T	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224478	0.39300	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.65732	-0.17;-0.17	5.62	5.62	0.85841	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.054132	0.64402	D	0.000001	T	0.40094	0.1103	N	0.05050	-0.12	0.80722	D	1	B	0.30563	0.285	B	0.28305	0.088	T	0.37709	-0.9694	10	0.31617	T	0.26	.	12.9303	0.58282	0.0:0.9261:0.0:0.0739	.	35	Q9Y6Y0	NS1BP_HUMAN	L	35	ENSP00000356468:R35L;ENSP00000356467:R35L	ENSP00000356467:R35L	R	-	2	0	IVNS1ABP	183545145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.651000	0.67951	2.646000	0.89796	0.655000	0.94253	CGA		0.294	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		23	46	1	0	7.88262e-20	1	1.09527e-19	23	46				
CYTH4	27128	broad.mit.edu	37	22	37692052	37692052	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:37692052G>A	ENST00000248901.6	+	4	367	c.180G>A	c.(178-180)caG>caA	p.Q60Q	CYTH4_ENST00000402997.1_Silent_p.Q60Q|CYTH4_ENST00000405206.3_Silent_p.Q60Q|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	60	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGATGGCCCAGAAGGAGAAGG	0.632																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(178-180)caG>caA		cytohesin 4							113.0	82.0	93.0					22																	37692052		2203	4300	6503	SO:0001819	synonymous_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37692052G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.180G>A	22.37:g.37692052G>A						CYTH4_ENST00000405206.3_Silent_p.Q60Q|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.Q60Q	p.Q60Q	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			4	367	+			60			SEC7.		Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	c.180G>A	CCDS13946.1																																																																																				0.632	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			7	24	0	0	0	1	0	7	24				
CXorf67	340602	broad.mit.edu	37	X	51150091	51150091	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:51150091G>A	ENST00000342995.2	+	1	325	c.223G>A	c.(223-225)Gcc>Acc	p.A75T				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	75										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGCCACCTCCGCCGCCATTTT	0.647																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(223-225)Gcc>Acc		chromosome X open reading frame 67							20.0	19.0	20.0					X																	51150091		2201	4294	6495	SO:0001583	missense	340602							g.chrX:51150091G>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.223G>A	X.37:g.51150091G>A	ENSP00000342680:p.Ala75Thr						p.A75T							1	325	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.223G>A		.	.	.	.	.	.	.	.	.	.	G	16.40	3.112287	0.56398	.	.	ENSG00000187690	ENST00000342995	T	0.54071	0.59	4.04	0.87	0.19102	.	1.266730	0.05937	N	0.636331	T	0.58047	0.2095	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.58620	0.842	T	0.41716	-0.9493	9	0.51188	T	0.08	-4.8349	1.718	0.02905	0.1256:0.203:0.4605:0.2108	.	75	Q86X51	CX067_HUMAN	T	75	ENSP00000342680:A75T	ENSP00000342680:A75T	A	+	1	0	CXorf67	51166831	.	.	0.000000	0.03702	0.081000	0.17604	.	.	0.279000	0.22186	0.529000	0.55759	GCC		0.647	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		14	22	0	0	0	1	0	14	22				
PEG10	23089	broad.mit.edu	37	7	94293017	94293017	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:94293017C>A	ENST00000482108.1	+	2	628	c.149C>A	c.(148-150)cCc>cAc	p.P50H	PEG10_ENST00000488574.1_Missense_Mutation_p.P50H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	50					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGTGGAACCCACCCCTGAG	0.582																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(148-150)cCc>cAc		paternally expressed 10							56.0	67.0	63.0					7																	94293017		2101	4227	6328	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293017C>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.149C>A	7.37:g.94293017C>A	ENSP00000417587:p.Pro50His					PEG10_ENST00000488574.1_Missense_Mutation_p.P50H	p.P50H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	628	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		50					Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.149C>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789309	0.31685	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.12879	2.64;2.64	4.35	4.35	0.52113	.	.	.	.	.	T	0.20618	0.0496	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.58454	0.839;0.839	T	0.07139	-1.0788	9	0.38643	T	0.18	.	12.5962	0.56470	0.0:1.0:0.0:0.0	.	126;50	B4DSP0;Q86TG7	.;PEG10_HUMAN	H	50	ENSP00000417587:P50H;ENSP00000418944:P50H	ENSP00000417587:P50H	P	+	2	0	PEG10	94130953	0.070000	0.21116	0.187000	0.23214	0.367000	0.29736	1.721000	0.38032	2.439000	0.82584	0.555000	0.69702	CCC		0.582	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		12	14	1	0	6.40141e-05	1	6.80069e-05	12	14				
IMPG2	50939	broad.mit.edu	37	3	100992575	100992575	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:100992575T>A	ENST00000193391.7	-	7	865	c.678A>T	c.(676-678)gaA>gaT	p.E226D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	226					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CATTCTCAATTTCATTGCTAA	0.358																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(676-678)gaA>gaT		interphotoreceptor matrix proteoglycan 2							112.0	101.0	105.0					3																	100992575		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100992575T>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.678A>T	3.37:g.100992575T>A	ENSP00000193391:p.Glu226Asp						p.E226D	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			7	865	-			226					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.678A>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045679	0.75846	.	.	ENSG00000081148	ENST00000193391	T	0.30714	1.52	5.91	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.36672	1.1	0.30249	N	0.79424	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.36672	-0.9738	10	0.87932	D	0	-12.7394	5.0877	0.14691	0.0:0.2955:0.0:0.7045	.	226;226	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	226	ENSP00000193391:E226D	ENSP00000193391:E226D	E	-	3	2	IMPG2	102475265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.123000	0.41996	0.506000	0.28125	0.528000	0.53228	GAA		0.358	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			27	62	0	0	0	1	0	27	62				
DAAM2	23500	broad.mit.edu	37	6	39869801	39869801	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:39869801G>T	ENST00000398904.2	+	25	3377	c.3195G>T	c.(3193-3195)cgG>cgT	p.R1065R	RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Silent_p.R1064R|DAAM2_ENST00000274867.4_Silent_p.R1065R			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1065					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAATAAACCGGCTAAATTATT	0.562																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(3190-3192)cgG>cgT		dishevelled associated activator of morphogenesis 2							20.0	23.0	22.0					6																	39869801		1926	4116	6042	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869801G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3195G>T	6.37:g.39869801G>T						DAAM2_ENST00000274867.4_Silent_p.R1065R|DAAM2_ENST00000398904.2_Silent_p.R1065R	p.R1064R	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			25	3374	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		1065					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.3192G>T	CCDS56426.1																																																																																				0.562	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			6	29	1	0	0.248553	1	0.25045	6	29				
LILRA2	11027	broad.mit.edu	37	19	55098738	55098738	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:55098738C>A	ENST00000251377.3	+	9	1510	c.1377C>A	c.(1375-1377)gtC>gtA	p.V459V	LILRA2_ENST00000391737.1_Silent_p.V430V|LILRA2_ENST00000391738.3_Silent_p.V459V|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.V442V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	459					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGGCTTGGTCCTGGTGGTCC	0.562																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(1375-1377)gtC>gtA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							111.0	95.0	101.0					19																	55098738		2203	4300	6503	SO:0001819	synonymous_variant	11027							g.chr19:55098738C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1377C>A	19.37:g.55098738C>A						LILRA2_ENST00000391738.3_Silent_p.V459V|LILRA2_ENST00000251376.3_Silent_p.V442V|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.V430V	p.V459V						GBM - Glioblastoma multiforme(193;0.0963)	9	1510	+								O75020	Silent	SNP	ENST00000251377.3	37	c.1377C>A	CCDS46179.1																																																																																				0.562	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			28	55	1	0	4.22769e-11	1	5.11978e-11	28	55				
PRKCQ	5588	broad.mit.edu	37	10	6539186	6539186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:6539186G>T	ENST00000263125.5	-	6	669	c.570C>A	c.(568-570)tgC>tgA	p.C190*	PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.C190*|PRKCQ_ENST00000539722.1_Nonsense_Mutation_p.C65*	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	190					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ACTTACGTCGGCACTGGTAGC	0.378																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(568-570)tgC>tgA		protein kinase C, theta							142.0	134.0	137.0					10																	6539186		2203	4300	6503	SO:0001587	stop_gained	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6539186G>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.570C>A	10.37:g.6539186G>T	ENSP00000263125:p.Cys190*					PRKCQ_ENST00000539722.1_Nonsense_Mutation_p.C65*|PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.C190*	p.C190*	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			6	669	-			190					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Nonsense_Mutation	SNP	ENST00000263125.5	37	c.570C>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857036	0.51376	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	.	.	.	5.54	-3.72	0.04411	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8636	0.46842	0.187:0.0927:0.7203:0.0	.	.	.	.	X	190;190;65	.	ENSP00000263125:C190X	C	-	3	2	PRKCQ	6579192	1.000000	0.71417	0.951000	0.38953	0.024000	0.10985	1.439000	0.35013	-0.867000	0.04063	-0.793000	0.03317	TGC		0.378	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		92	102	1	0	1.28662e-36	1	2.01583e-36	92	102				
IQCG	84223	broad.mit.edu	37	3	197670845	197670845	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:197670845G>A	ENST00000265239.6	-	4	510	c.86C>T	c.(85-87)cCt>cTt	p.P29L	IQCG_ENST00000453254.1_Missense_Mutation_p.P29L|IQCG_ENST00000455191.1_Missense_Mutation_p.P29L|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	29						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TACGGTACTAGGTGGTTCGCC	0.443																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(85-87)cCt>cTt		IQ motif containing G							139.0	138.0	139.0					3																	197670845		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197670845G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.86C>T	3.37:g.197670845G>A	ENSP00000265239:p.Pro29Leu					IQCG_ENST00000455191.1_Missense_Mutation_p.P29L|IQCG_ENST00000453254.1_Missense_Mutation_p.P29L|IQCG_ENST00000480302.1_5'UTR	p.P29L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	510	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		29					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.86C>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809855	0.70797	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896;ENST00000452735	T;T;T;T	0.66995	-0.24;-0.24;-0.05;0.07	4.87	4.87	0.63330	.	1.045060	0.07556	N	0.916273	T	0.82051	0.4953	M	0.74881	2.28	0.30399	N	0.780247	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.71820	-0.4477	10	0.37606	T	0.19	-11.1514	13.4633	0.61239	0.0:0.0:1.0:0.0	.	29;29	C9JKX8;Q9H095	.;IQCG_HUMAN	L	29;29;29;10;29	ENSP00000265239:P29L;ENSP00000407736:P29L;ENSP00000389897:P29L;ENSP00000406411:P10L	ENSP00000265239:P29L	P	-	2	0	IQCG	199155242	0.985000	0.35326	0.398000	0.26321	0.059000	0.15707	4.113000	0.57851	2.559000	0.86315	0.551000	0.68910	CCT		0.443	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		54	147	0	0	0	1	0	54	147				
DNAH5	1767	broad.mit.edu	37	5	13830263	13830263	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:13830263C>A	ENST00000265104.4	-	37	6225	c.6121G>T	c.(6121-6123)Gtt>Ttt	p.V2041F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2041	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCGAGAGAACTGGTAGATCA	0.358									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(6121-6123)Gtt>Ttt		dynein, axonemal, heavy chain 5							80.0	81.0	80.0					5																	13830263		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13830263C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6121G>T	5.37:g.13830263C>A	ENSP00000265104:p.Val2041Phe						p.V2041F	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			37	6225	-	Lung NSC(4;0.00476)		2041			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6121G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078002	0.94000	.	.	ENSG00000039139	ENST00000265104	T	0.14640	2.49	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76152	-0.3064	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2041	Q8TE73	DYH5_HUMAN	F	2041	ENSP00000265104:V2041F	ENSP00000265104:V2041F	V	-	1	0	DNAH5	13883263	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTT		0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	46	1	0	1.00905e-13	1	1.28071e-13	21	46				
TMEM171	134285	broad.mit.edu	37	5	72419619	72419619	+	Nonsense_Mutation	SNP	G	G	A	rs369978015		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:72419619G>A	ENST00000454765.2	+	2	892	c.419G>A	c.(418-420)tGg>tAg	p.W140*	TMEM171_ENST00000287773.5_Nonsense_Mutation_p.W140*			Q8WVE6	TM171_HUMAN	transmembrane protein 171	140						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GGCTCCAACTGGGCGCAGGAA	0.567																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(418-420)tGg>tAg		transmembrane protein 171		G	stop/TRP,stop/TRP	1,4405	2.1+/-5.4	0,1,2202	121.0	123.0	122.0		419,419	5.3	0.9	5		122	0,8600		0,0,4300	no	stop-gained,stop-gained	TMEM171	NM_001161342.1,NM_173490.6	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	140/324,140/325	72419619	1,13005	2203	4300	6503	SO:0001587	stop_gained	134285					integral to membrane		g.chr5:72419619G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.419G>A	5.37:g.72419619G>A	ENSP00000415030:p.Trp140*					TMEM171_ENST00000287773.5_Nonsense_Mutation_p.W140*	p.W140*			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	892	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	140					Q8N0S1|Q8TDT7	Nonsense_Mutation	SNP	ENST00000454765.2	37	c.419G>A	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	36	5.764779	0.96906	2.27E-4	0.0	ENSG00000157111	ENST00000454765;ENST00000287773	.	.	.	5.35	5.35	0.76521	.	0.089650	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1329	13.9588	0.64166	0.0:0.0:0.8483:0.1517	.	.	.	.	X	140	.	ENSP00000287773:W140X	W	+	2	0	TMEM171	72455375	1.000000	0.71417	0.921000	0.36526	0.019000	0.09904	3.398000	0.52579	2.512000	0.84698	0.462000	0.41574	TGG		0.567	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		50	79	0	0	0	1	0	50	79				
TNXB	7148	broad.mit.edu	37	6	32017975	32017975	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:32017975C>A	ENST00000375244.3	-	27	9440	c.9239G>T	c.(9238-9240)tGg>tTg	p.W3080L	TNXB_ENST00000375247.2_Missense_Mutation_p.W3078L			P22105	TENX_HUMAN	tenascin XB	3125	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGAACCATCCAGGACAGGCT	0.667																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9238-9240)tGg>tTg		tenascin XB							83.0	90.0	88.0					6																	32017975		1250	2539	3789	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017975C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9239G>T	6.37:g.32017975C>A	ENSP00000364393:p.Trp3080Leu					TNXB_ENST00000375247.2_Missense_Mutation_p.W3078L	p.W3080L			P22105	TENX_HUMAN			27	9440	-			3125					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9239G>T		.	.	.	.	.	.	.	.	.	.	c	19.70	3.876385	0.72180	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.68903	-0.36;-0.36	3.59	3.59	0.41128	.	0.000000	0.44097	D	0.000488	D	0.82393	0.5027	H	0.94306	3.52	0.35324	D	0.785021	D	0.89917	1.0	D	0.83275	0.996	D	0.87167	0.2218	10	0.87932	D	0	.	12.2757	0.54733	0.0:1.0:0.0:0.0	.	3078	P22105-3	.	L	3080;3078	ENSP00000364393:W3080L;ENSP00000364396:W3078L	ENSP00000364393:W3080L	W	-	2	0	TNXB	32125953	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	3.759000	0.55227	1.832000	0.53329	0.456000	0.33151	TGG		0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		38	78	1	0	1.03484e-13	1	1.3103e-13	38	78				
AKAP17A	8227	broad.mit.edu	37	X	1720350	1720350	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:1720350A>T	ENST00000313871.3	+	5	2147	c.1951A>T	c.(1951-1953)Agc>Tgc	p.S651C		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	651	Arg-rich.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GAGGTCCCACAGCAAAGACAG	0.736																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(1951-1953)Agc>Tgc		A kinase (PRKA) anchor protein 17A							12.0	19.0	17.0					X																	1720350		2166	4258	6424	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1720350A>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1951A>T	X.37:g.1720350A>T	ENSP00000324827:p.Ser651Cys						p.S651C	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			5	2147	+			651			Arg-rich.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1951A>T	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	a	9.050	0.991768	0.18966	.	.	ENSG00000197976	ENST00000313871	T	0.59083	0.29	1.41	0.00669	0.14068	.	0.168378	0.37393	U	0.002119	T	0.46054	0.1373	.	.	.	0.09310	N	1	D	0.61697	0.99	P	0.45310	0.476	T	0.42378	-0.9455	9	0.59425	D	0.04	.	4.834	0.13454	0.6737:0.0:0.3263:0.0	.	651	Q02040	AK17A_HUMAN	C	651	ENSP00000324827:S651C	ENSP00000324827:S651C	S	+	1	0	AKAP17A	1680350	0.993000	0.37304	0.172000	0.22920	0.161000	0.22273	1.787000	0.38704	0.308000	0.22923	0.300000	0.19848	AGC		0.736	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	17	0	0	0	1	0	4	17				
PRICKLE3	4007	broad.mit.edu	37	X	49040166	49040166	+	Intron	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:49040166G>C	ENST00000376317.3	-	3	407				PRICKLE3_ENST00000540849.1_Intron|PRICKLE3_ENST00000376310.3_Intron|PRICKLE3_ENST00000536904.1_Silent_p.S43S|PRICKLE3_ENST00000538114.1_Silent_p.S111S	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)								zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGCAAGAGTGGAGGGCTGGC	0.602																																						ENST00000536904.1																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(127-129)tcC>tcG		prickle homolog 3 (Drosophila)							32.0	27.0	29.0					X																	49040166		2203	4300	6503	SO:0001627	intron_variant	4007						protein binding|zinc ion binding	g.chrX:49040166G>C	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.312+20C>G	X.37:g.49040166G>C						PRICKLE3_ENST00000538114.1_Silent_p.S111S|PRICKLE3_ENST00000376310.3_Intron|PRICKLE3_ENST00000376317.3_Intron|PRICKLE3_ENST00000540849.1_Intron	p.S43S			O43900	PRIC3_HUMAN			3	358	-			111					B7Z8F2|O76007|Q53XR5	Silent	SNP	ENST00000376317.3	37	c.129C>G	CCDS14320.1																																																																																				0.602	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		8	32	0	0	0	1	0	8	32				
ALOX5	240	broad.mit.edu	37	10	45878011	45878011	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:45878011G>A	ENST00000374391.2	+	2	284	c.231G>A	c.(229-231)ctG>ctA	p.L77L	ALOX5_ENST00000542434.1_Silent_p.L77L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	77	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.L77L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AGTACTGGCTGAATGACGACT	0.567																																						ENST00000374391.2																			1	Substitution - coding silent(1)	p.L77L(1)	cervix(1)	breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(229-231)ctG>ctA		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						154.0	114.0	127.0					10																	45878011		2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45878011G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.231G>A	10.37:g.45878011G>A						ALOX5_ENST00000542434.1_Silent_p.L77L	p.L77L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			2	284	+		Lung SC(717;0.0257)	77			PLAT.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.231G>A	CCDS7212.1																																																																																				0.567	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			26	46	0	0	0	1	0	26	46				
DNM1P46	196968	broad.mit.edu	37	15	100339997	100339997	+	RNA	SNP	G	G	C	rs201407168		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:100339997G>C	ENST00000341853.1	-	0	929					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GTGTCTTCTCGTTCCCACGCG	0.612																																						ENST00000341853.1																			0																				35.0	30.0	32.0					15																	100339997		874	1991	2865			196968							g.chr15:100339997G>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339997G>C								NR_003260.1						0	929	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		5	51	0	0	0	1	0	5	51				
RAB6B	51560	broad.mit.edu	37	3	133560157	133560157	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:133560157C>A	ENST00000285208.4	-	4	610	c.261G>T	c.(259-261)acG>acT	p.T87T	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Silent_p.T74T|RAB6B_ENST00000543906.1_Silent_p.T87T	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	87					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CCACAGCCACCGTGGAGTCCC	0.637																																						ENST00000285208.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						c.(259-261)acG>acT		RAB6B, member RAS oncogene family							125.0	105.0	111.0					3																	133560157		2203	4300	6503	SO:0001819	synonymous_variant	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133560157C>A	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.261G>T	3.37:g.133560157C>A						RAB6B_ENST00000486858.1_Silent_p.T74T|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.T87T	p.T87T	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN			4	610	-			87					B2R5Z9|B7Z337|D3DND3|Q92929	Silent	SNP	ENST00000285208.4	37	c.261G>T	CCDS3082.1																																																																																				0.637	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			67	75	1	0	6.07461e-23	1	8.76337e-23	67	75				
OR5D18	219438	broad.mit.edu	37	11	55587658	55587658	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:55587658C>T	ENST00000333976.4	+	1	573	c.553C>T	c.(553-555)Cta>Tta	p.L185L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTCTCCTCACTACTCTCCCT	0.423																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(553-555)Cta>Tta		olfactory receptor, family 5, subfamily D, member 18							216.0	195.0	202.0					11																	55587658		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587658C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.553C>T	11.37:g.55587658C>T							p.L185L	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	573	+		all_epithelial(135;0.208)	185					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.553C>T	CCDS31510.1																																																																																				0.423	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		98	46	0	0	0	1	0	98	46				
UNC5A	90249	broad.mit.edu	37	5	176295145	176295145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:176295145G>T	ENST00000329542.4	+	3	581	c.307G>T	c.(307-309)Gag>Tag	p.E103*	UNC5A_ENST00000261961.3_Nonsense_Mutation_p.E63*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	103	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCACCATGGAGGTCCGCAT	0.642																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(307-309)Gag>Tag		unc-5 homolog A (C. elegans)							107.0	105.0	106.0					5																	176295145		2203	4300	6503	SO:0001587	stop_gained	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176295145G>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.307G>T	5.37:g.176295145G>T	ENSP00000332737:p.Glu103*					UNC5A_ENST00000261961.3_Nonsense_Mutation_p.E63*	p.E103*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	581	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	103			Ig-like.		B2RXE6|Q8TF26|Q96GP4	Nonsense_Mutation	SNP	ENST00000329542.4	37	c.307G>T	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.739185|5.739185	0.96873|0.96873	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000329542;ENST00000261961|ENST00000509580	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.194064|.	0.45126|.	D|.	0.000384|.	.|T	.|0.74261	.|0.3693	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73681	.|-0.3906	.|3	0.87932|.	D|.	0|.	-33.2344|-33.2344	18.173|18.173	0.89752|0.89752	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	103;63|68	.|.	ENSP00000261961:E63X|.	E|G	+|+	1|2	0|0	UNC5A|UNC5A	176227751|176227751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.177000|0.177000	0.22998|0.22998	4.737000|4.737000	0.62066|0.62066	2.390000|2.390000	0.81377|0.81377	0.491000|0.491000	0.48974|0.48974	GAG|GGA		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		35	79	1	0	2.75727e-19	1	3.7814e-19	35	79				
ARHGAP4	393	broad.mit.edu	37	X	153178914	153178914	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:153178914C>A	ENST00000350060.5	-	9	1316	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H	ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.Q465H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q247H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q402H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q404H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	425					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGGCCCGCCTGCCGGCTGC	0.692																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1393-1395)caG>caT		Rho GTPase activating protein 4							43.0	51.0	48.0					X																	153178914		2194	4277	6471	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153178914C>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1275G>T	X.37:g.153178914C>A	ENSP00000203786:p.Gln425His					ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q247H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.Q425H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q402H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q404H	p.Q465H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			10	1452	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		425					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1395G>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588337	0.46110	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T;T	0.55234	0.55;0.55;0.55;0.55;0.55;0.53	5.2	5.2	0.72013	.	0.246537	0.22030	N	0.065603	T	0.41073	0.1143	L	0.33485	1.01	0.40047	D	0.975727	B;B	0.33266	0.27;0.404	B;B	0.32465	0.146;0.146	T	0.42531	-0.9446	10	0.49607	T	0.09	.	10.235	0.43277	0.0:0.9046:0.0:0.0954	.	465;425	Q86UY3;P98171	.;RHG04_HUMAN	H	247;465;425;404;402;172	ENSP00000377322:Q247H;ENSP00000359045:Q465H;ENSP00000203786:Q425H;ENSP00000359033:Q404H;ENSP00000444169:Q402H;ENSP00000398019:Q172H	ENSP00000203786:Q425H	Q	-	3	2	ARHGAP4	152832108	0.239000	0.23836	0.821000	0.32701	0.630000	0.37929	0.822000	0.27352	2.145000	0.66743	0.509000	0.49947	CAG		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		42	63	1	0	2.0833e-19	1	2.86454e-19	42	63				
GIMAP8	155038	broad.mit.edu	37	7	150163813	150163813	+	Silent	SNP	C	C	T	rs370191374		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:150163813C>T	ENST00000307271.3	+	2	601	c.27C>T	c.(25-27)tcC>tcT	p.S9S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	9	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCAGATGTCCGAACTGCGGC	0.507																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(25-27)tcC>tcT		GTPase, IMAP family member 8		C		0,4406		0,0,2203	47.0	50.0	49.0		27	-7.2	0.0	7		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GIMAP8	NM_175571.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		9/666	150163813	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150163813C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.27C>T	7.37:g.150163813C>T							p.S9S	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	601	+			9						Silent	SNP	ENST00000307271.3	37	c.27C>T	CCDS34777.1																																																																																				0.507	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		21	42	0	0	0	1	0	21	42				
DDX60L	91351	broad.mit.edu	37	4	169299609	169299609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:169299609G>A	ENST00000511577.1	-	33	4628	c.4381C>T	c.(4381-4383)Caa>Taa	p.Q1461*	DDX60L_ENST00000260184.7_Nonsense_Mutation_p.Q1461*			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1461							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATCACATCTTGGGAAAATTGT	0.279																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4381-4383)Caa>Taa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							38.0	33.0	34.0					4																	169299609		1780	4050	5830	SO:0001587	stop_gained	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169299609G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4381C>T	4.37:g.169299609G>A	ENSP00000422423:p.Gln1461*					DDX60L_ENST00000260184.7_Nonsense_Mutation_p.Q1461*	p.Q1461*			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	33	4628	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1461					Q96ND6	Nonsense_Mutation	SNP	ENST00000511577.1	37	c.4381C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.516461	0.98845	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	.	.	.	3.36	-1.67	0.08238	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	5.5409	0.17038	0.0933:0.4727:0.3167:0.1172	.	.	.	.	X	1461	.	ENSP00000260184:Q1461X	Q	-	1	0	DDX60L	169536184	0.744000	0.28250	0.008000	0.14137	0.108000	0.19459	-0.285000	0.08410	-0.291000	0.09012	0.313000	0.20887	CAA		0.279	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		3	6	0	0	0	1	0	3	6				
IKZF1	10320	broad.mit.edu	37	7	50367257	50367257	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:50367257G>T	ENST00000331340.3	+	3	219	c.64G>T	c.(64-66)Gat>Tat	p.D22Y	IKZF1_ENST00000439701.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000413698.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000440768.2_Missense_Mutation_p.D22Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D22Y|IKZF1_ENST00000349824.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.D22Y|IKZF1_ENST00000438033.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000346667.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000357364.4_Missense_Mutation_p.D22Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	22					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCCTGTAAGCGATACTCCAGA	0.587			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		33	Unknown(33)	p.?(33)	haematopoietic_and_lymphoid_tissue(33)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(64-66)Gat>Tat		IKAROS family zinc finger 1 (Ikaros)							45.0	42.0	43.0					7																	50367257		1568	3582	5150	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50367257G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.64G>T	7.37:g.50367257G>T	ENSP00000331614:p.Asp22Tyr					IKZF1_ENST00000439701.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000349824.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000440768.2_Missense_Mutation_p.D22Y|IKZF1_ENST00000359197.5_Missense_Mutation_p.D22Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D22Y|IKZF1_ENST00000438033.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000413698.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000346667.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000357364.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000492782.1_3'UTR	p.D22Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			3	219	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	22					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.64G>T		.	.	.	.	.	.	.	.	.	.	G	19.80	3.894791	0.72639	.	.	ENSG00000185811	ENST00000413698;ENST00000346667;ENST00000343574;ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701;ENST00000426121	T;T;T;T;T;T;T;T;T	0.06933	4.5;3.24;3.38;3.28;4.16;3.46;3.36;3.24;3.38	5.92	5.92	0.95590	.	0.248184	0.46145	D	0.000320	T	0.33933	0.0880	.	.	.	0.80722	D	1	D;D;D;D	0.89917	0.997;0.998;1.0;1.0	D;D;D;D	0.87578	0.938;0.976;0.998;0.995	T	0.01608	-1.1313	9	0.87932	D	0	-6.823	20.3116	0.98642	0.0:0.0:1.0:0.0	.	22;22;22;22	Q13422-2;Q13422-7;Q13422;C9JTB0	.;.;IKZF1_HUMAN;.	Y	22;22;22;22;22;22;22;22;22;22;5	ENSP00000340080:D22Y;ENSP00000342750:D22Y;ENSP00000352123:D22Y;ENSP00000401507:D22Y;ENSP00000342485:D22Y;ENSP00000349928:D22Y;ENSP00000331614:D22Y;ENSP00000396554:D22Y;ENSP00000413025:D22Y	ENSP00000331614:D22Y	D	+	1	0	IKZF1	50337801	1.000000	0.71417	0.273000	0.24645	0.374000	0.29953	8.718000	0.91430	2.793000	0.96121	0.650000	0.86243	GAT		0.587	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		72	10	1	0	8.83742e-36	1	1.36837e-35	72	10				
CD163L1	283316	broad.mit.edu	37	12	7586251	7586251	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:7586251C>T	ENST00000313599.3	-	3	221	c.164G>A	c.(163-165)gGt>gAt	p.G55D	CD163L1_ENST00000416109.2_Missense_Mutation_p.G55D|CD163L1_ENST00000396630.1_Missense_Mutation_p.G55D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	55	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAGCAGGGACCGTCTCCATT	0.473																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(163-165)gGt>gAt		CD163 molecule-like 1							170.0	132.0	145.0					12																	7586251		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586251C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.164G>A	12.37:g.7586251C>T	ENSP00000315945:p.Gly55Asp					CD163L1_ENST00000416109.2_Missense_Mutation_p.G55D|CD163L1_ENST00000396630.1_Missense_Mutation_p.G55D	p.G55D			Q9NR16	C163B_HUMAN			3	221	-			55			SRCR 1.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.164G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	2.386	-0.341061	0.05243	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.28895	1.59;1.59;1.59	1.85	-2.44	0.06502	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.403409	0.19026	U	0.124694	T	0.12220	0.0297	N	0.16862	0.45	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.18147	-1.0346	10	0.19147	T	0.46	.	3.2994	0.06978	0.0:0.396:0.2296:0.3745	.	55;55	E7EVK4;Q9NR16	.;C163B_HUMAN	D	55	ENSP00000315945:G55D;ENSP00000393474:G55D;ENSP00000379871:G55D	ENSP00000315945:G55D	G	-	2	0	CD163L1	7477518	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.845000	0.04340	-0.465000	0.06953	0.563000	0.77884	GGT		0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		46	76	0	0	0	1	0	46	76				
MS4A1	931	broad.mit.edu	37	11	60233490	60233490	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:60233490C>A	ENST00000534668.1	+	5	722	c.433C>A	c.(433-435)Cat>Aat	p.H145N	MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Missense_Mutation_p.H145N|MS4A1_ENST00000389939.2_Missense_Mutation_p.H145N|MS4A1_ENST00000345732.4_Missense_Mutation_p.H145N	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	145					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TAAAATTTCCCATTTTTTAAA	0.333																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(433-435)Cat>Aat		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						48.0	50.0	49.0					11																	60233490		2202	4299	6501	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60233490C>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.433C>A	11.37:g.60233490C>A	ENSP00000433277:p.His145Asn					MS4A1_ENST00000389939.2_Missense_Mutation_p.H145N|MS4A1_ENST00000532073.1_Missense_Mutation_p.H145N|MS4A1_ENST00000345732.4_Missense_Mutation_p.H145N|MS4A1_ENST00000528313.1_Intron	p.H145N	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			5	722	+			145					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.433C>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299256	0.40694	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000389939	T;T;T;T	0.02369	4.32;4.32;4.32;4.32	5.29	4.37	0.52481	.	0.115168	0.39146	N	0.001454	T	0.06371	0.0164	M	0.84683	2.71	0.31709	N	0.639721	B;B	0.18166	0.026;0.026	B;B	0.23275	0.045;0.045	T	0.03240	-1.1057	10	0.19147	T	0.46	-20.717	11.5629	0.50788	0.1789:0.8211:0.0:0.0	.	145;145	E9PKH8;P11836	.;CD20_HUMAN	N	145	ENSP00000314620:H145N;ENSP00000433519:H145N;ENSP00000433277:H145N;ENSP00000374589:H145N	ENSP00000314620:H145N	H	+	1	0	MS4A1	59990066	1.000000	0.71417	0.925000	0.36789	0.995000	0.86356	2.119000	0.41958	1.336000	0.45506	0.655000	0.94253	CAT		0.333	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			36	14	1	0	4.65686e-17	1	6.16247e-17	36	14				
PHKA2	5256	broad.mit.edu	37	X	18956846	18956846	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:18956846C>A	ENST00000379942.4	-	10	1605	c.940G>T	c.(940-942)Gac>Tac	p.D314Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	314					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCAGCAGGGTCATAATGCAGT	0.393																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(940-942)Gac>Tac		phosphorylase kinase, alpha 2 (liver)							108.0	95.0	99.0					X																	18956846		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18956846C>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.940G>T	X.37:g.18956846C>A	ENSP00000369274:p.Asp314Tyr						p.D314Y	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			10	1605	-	Hepatocellular(33;0.183)		314					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.940G>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	c	13.18	2.158918	0.38119	.	.	ENSG00000044446	ENST00000379942	D	0.92858	-3.12	4.85	4.85	0.62838	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.91175	0.7220	L	0.60455	1.87	0.80722	D	1	B	0.16802	0.019	B	0.25759	0.063	D	0.89199	0.3556	10	0.87932	D	0	-21.9866	17.4276	0.87530	0.0:1.0:0.0:0.0	.	314	P46019	KPB2_HUMAN	Y	314	ENSP00000369274:D314Y	ENSP00000369274:D314Y	D	-	1	0	PHKA2	18866767	1.000000	0.71417	0.991000	0.47740	0.142000	0.21351	7.668000	0.83897	2.128000	0.65567	0.597000	0.82753	GAC		0.393	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		16	54	1	0	6.31663e-08	1	7.17243e-08	16	54				
SPATA31E1	286234	broad.mit.edu	37	9	90503164	90503164	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:90503164G>A	ENST00000325643.5	+	4	3828	c.3762G>A	c.(3760-3762)aaG>aaA	p.K1254K		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1254					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCTGGAGAAGGGACAGACAC	0.552																																						ENST00000325643.5																			0											c.(3760-3762)aaG>aaA		SPATA31 subfamily E, member 1							77.0	75.0	76.0					9																	90503164		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90503164G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3762G>A	9.37:g.90503164G>A							p.K1254K	NM_178828.4	NP_849150.3					4	3828	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.3762G>A	CCDS6676.1																																																																																				0.552	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		29	25	0	0	0	1	0	29	25				
PPP1R9A	55607	broad.mit.edu	37	7	94540265	94540265	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:94540265A>G	ENST00000433881.1	+	2	1372	c.840A>G	c.(838-840)ccA>ccG	p.P280P	PPP1R9A_ENST00000340694.4_Silent_p.P280P|PPP1R9A_ENST00000456331.2_Silent_p.P280P|PPP1R9A_ENST00000424654.1_Silent_p.P280P|PPP1R9A_ENST00000289495.5_Silent_p.P280P|PPP1R9A_ENST00000433360.1_Silent_p.P280P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	280					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCCAGTACCAGAAGTGGCTT	0.478										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(838-840)ccA>ccG		protein phosphatase 1, regulatory subunit 9A							60.0	50.0	54.0					7																	94540265		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540265A>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.840A>G	7.37:g.94540265A>G		HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Silent_p.P280P|PPP1R9A_ENST00000424654.1_Silent_p.P280P|PPP1R9A_ENST00000433881.1_Silent_p.P280P|PPP1R9A_ENST00000433360.1_Silent_p.P280P|PPP1R9A_ENST00000456331.2_Silent_p.P280P	p.P280P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	1056	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		280					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.840A>G	CCDS34683.1																																																																																				0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		23	43	0	0	0	1	0	23	43				
OR9Q1	219956	broad.mit.edu	37	11	57947505	57947505	+	Missense_Mutation	SNP	G	G	C	rs138122197	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:57947505G>C	ENST00000335397.3	+	3	905	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CACTCAAGAAGTGCTGATTAT	0.468													g|||	7	0.00139776	0.0	0.0043	5008	,	,		22403	0.0		0.002	False		,,,				2504	0.002					ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(589-591)Gtg>Ctg		olfactory receptor, family 9, subfamily Q, member 1		C	LEU/VAL	0,4402		0,0,2201	174.0	144.0	154.0		589	-4.2	0.2	11	dbSNP_134	154	16,8576	11.9+/-42.8	0,16,4280	yes	missense	OR9Q1	NM_001005212.3	32	0,16,6481	CC,CG,GG		0.1862,0.0,0.1231	benign	197/311	57947505	16,12978	2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947505G>C	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.589G>C	11.37:g.57947505G>C	ENSP00000334934:p.Val197Leu						p.V197L	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	905	+		Breast(21;0.222)	197					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.589G>C	CCDS31543.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	g	0.005	-2.219247	0.00286	0.0	0.001862	ENSG00000186509	ENST00000335397	T	0.00054	8.8	4.83	-4.18	0.03846	GPCR, rhodopsin-like superfamily (1);	1.387960	0.04895	N	0.450283	T	0.00039	0.0001	N	0.05510	-0.035	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.20672	-1.0268	10	0.02654	T	1	-3.4726	3.0555	0.06183	0.2377:0.3989:0.2553:0.1081	.	197	Q8NGQ5	OR9Q1_HUMAN	L	197	ENSP00000334934:V197L	ENSP00000334934:V197L	V	+	1	0	OR9Q1	57704081	0.000000	0.05858	0.153000	0.22517	0.162000	0.22319	-1.860000	0.01656	-0.514000	0.06488	-0.335000	0.08231	GTG		0.468	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		67	35	0	0	0	1	0	67	35				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374293	95374293	+	RNA	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:95374293G>T	ENST00000494840.1	-	0	1568					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		CCTAGGGTTGGAATGTCAGTT	0.458																																						ENST00000494840.1																			0																																																			100287639							g.chr3:95374293G>T			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374293G>T								NR_077228.1						0	1568	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.458	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			22	53	1	0	6.44725e-10	1	7.61555e-10	22	53				
RNF19A	25897	broad.mit.edu	37	8	101276908	101276908	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:101276908C>T	ENST00000519449.1	-	7	1613	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.V433M	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	433					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CCTACAGTCACTGCAGCTACT	0.363																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1297-1299)Gtg>Atg		ring finger protein 19A, RBR E3 ubiquitin protein ligase							201.0	176.0	184.0					8																	101276908		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101276908C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1297G>A	8.37:g.101276908C>T	ENSP00000428968:p.Val433Met					RNF19A_ENST00000341084.2_Missense_Mutation_p.V433M|RNF19A_ENST00000523255.1_5'UTR	p.V433M	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		7	1613	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		433					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1297G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583128	0.86748	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85556	-2.0;-2.0	5.41	5.41	0.78517	.	0.057897	0.64402	D	0.000002	D	0.90140	0.6919	L	0.46741	1.465	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.88546	0.3113	10	0.37606	T	0.19	.	19.229	0.93829	0.0:1.0:0.0:0.0	.	433	Q9NV58	RN19A_HUMAN	M	433	ENSP00000428968:V433M;ENSP00000342667:V433M	ENSP00000342667:V433M	V	-	1	0	RNF19A	101346084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.699000	0.92147	0.650000	0.86243	GTG		0.363	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		28	86	0	0	0	1	0	28	86				
CTNNA2	1496	broad.mit.edu	37	2	80782995	80782995	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:80782995C>G	ENST00000402739.4	+	11	1723	c.1718C>G	c.(1717-1719)gCt>gGt	p.A573G	CTNNA2_ENST00000540488.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A252G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A607G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	573					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGTTGGAAGCTACAAAATTG	0.438																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1717-1719)gCt>gGt		catenin (cadherin-associated protein), alpha 2							143.0	135.0	138.0					2																	80782995		1886	4119	6005	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80782995C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1718C>G	2.37:g.80782995C>G	ENSP00000384638:p.Ala573Gly					CTNNA2_ENST00000361291.4_Missense_Mutation_p.A607G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A573G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A252G	p.A573G			P26232	CTNA2_HUMAN			16	2442	+			573					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1718C>G		.	.	.	.	.	.	.	.	.	.	C	25.2	4.610753	0.87258	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	5.52	5.52	0.82312	.	0.059466	0.64402	D	0.000002	T	0.77370	0.4120	M	0.88842	2.985	0.51767	D	0.999939	P;P;B;B	0.45283	0.855;0.683;0.147;0.147	P;P;B;B	0.49192	0.602;0.486;0.195;0.195	T	0.79983	-0.1573	9	.	.	.	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	205;573;573;573	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	G	573;573;607;573;573;573;252	ENSP00000418191:A573G;ENSP00000419295:A573G;ENSP00000355398:A607G;ENSP00000384638:A573G;ENSP00000444675:A573G;ENSP00000441705:A573G;ENSP00000341500:A252G	.	A	+	2	0	CTNNA2	80636506	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.908000	0.69916	2.765000	0.95021	0.650000	0.86243	GCT		0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		32	79	0	0	0	1	0	32	79				
LYRM9	201229	broad.mit.edu	37	17	26209688	26209688	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:26209688C>A	ENST00000379103.3	-	3	321	c.33G>T	c.(31-33)cgG>cgT	p.R11R	LYRM9_ENST00000503642.1_Silent_p.R11R|LYRM9_ENST00000508862.1_Silent_p.R11R|LYRM9_ENST00000460380.2_Silent_p.R11R|RP11-138P22.1_ENST00000581901.1_RNA|LYRM9_ENST00000379102.3_Silent_p.R11R|RP1-66C13.4_ENST00000582441.1_Silent_p.R11R	NM_001076680.1	NP_001070148.1	A8MSI8	LYRM9_HUMAN	LYR motif containing 9	11																	GCAGTGGCCTCCGAACCAGTT	0.587																																						ENST00000460380.2																			0											c.(31-33)cgG>cgT		LYR motif containing 9							26.0	29.0	28.0					17																	26209688		2046	4193	6239	SO:0001819	synonymous_variant	201229							g.chr17:26209688C>A	BC018092	CCDS45631.1	17q11.2	2014-06-05	2012-10-23	2012-10-23	ENSG00000232859	ENSG00000232859		"""LYR motif containing"""	27314	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 108"""	C17orf108		12477932	Standard	NM_001076680		Approved	HSD24	uc002gzx.3	A8MSI8	OTTHUMG00000132829	ENST00000379103.3:c.33G>T	17.37:g.26209688C>A						LYRM9_ENST00000379102.3_Silent_p.R11R|LYRM9_ENST00000379103.3_Silent_p.R11R|RP1-66C13.4_ENST00000582441.1_Silent_p.R11R|LYRM9_ENST00000508862.1_Silent_p.R11R|LYRM9_ENST00000503642.1_Silent_p.R11R	p.R11R							2	93	-								A6NJT7|Q6X7B8	Silent	SNP	ENST00000379103.3	37	c.33G>T	CCDS45631.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068660	0.20147	.	.	ENSG00000232859	ENST00000379103	.	.	.	5.3	4.34	0.51931	.	.	.	.	.	T	0.53530	0.1802	.	.	.	0.80722	D	1	B	0.19817	0.039	B	0.23018	0.043	T	0.54275	-0.8318	7	0.87932	D	0	.	9.7018	0.40192	0.0:0.9041:0.0:0.0959	.	64	F2Z3P6	.	V	64	.	ENSP00000368397:G64V	G	-	2	0	C17orf108	23233815	0.989000	0.36119	0.995000	0.50966	0.709000	0.40893	0.507000	0.22675	1.251000	0.43983	0.462000	0.41574	GGA		0.587	LYRM9-001	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256294.3	NM_001076680		8	7	1	0	1.06961e-07	1	1.20674e-07	8	7				
CEP170	9859	broad.mit.edu	37	1	243354691	243354691	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:243354691T>A	ENST00000366542.1	-	8	788	c.737A>T	c.(736-738)aAa>aTa	p.K246I	CEP170_ENST00000366543.1_Missense_Mutation_p.K246I|CEP170_ENST00000366544.1_Missense_Mutation_p.K246I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	246						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTGGAATTCTTTTGTAGGGAT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(736-738)aAa>aTa		centrosomal protein 170kDa							24.0	23.0	23.0					1																	243354691		1793	4052	5845	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243354691T>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.737A>T	1.37:g.243354691T>A	ENSP00000355500:p.Lys246Ile					CEP170_ENST00000366544.1_Missense_Mutation_p.K246I|CEP170_ENST00000366543.1_Missense_Mutation_p.K246I	p.K246I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		8	788	-	all_neural(11;0.101)	all_cancers(173;0.003)	246					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.737A>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.202580|4.202580	0.79127|0.79127	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.37411|.	1.2;1.2;1.2|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.66147|.	0.2760|.	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;1.0;0.996|.	T|.	0.64368|.	-0.6424|.	10|.	0.87932|0.02654	D|T	0|1	-20.1284|-20.1284	14.5724|14.5724	0.68220|0.68220	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	246;246;246|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	I|X	246;246;246;144|148	ENSP00000355500:K246I;ENSP00000355502:K246I;ENSP00000355501:K246I|.	ENSP00000355500:K246I|ENSP00000338161:K148X	K|K	-|-	2|1	0|0	CEP170|CEP170	241421314|241421314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.320000|7.320000	0.79064|0.79064	1.853000|1.853000	0.53794|0.53794	0.374000|0.374000	0.22700|0.22700	AAA|AAG		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		4	14	0	0	0	1	0	4	14				
CYB561	1534	broad.mit.edu	37	17	61512558	61512558	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:61512558G>A	ENST00000392976.1	-	5	751	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CYB561_ENST00000582997.1_Missense_Mutation_p.S158F|CYB561_ENST00000584031.1_Missense_Mutation_p.P167S|CYB561_ENST00000448884.2_Intron|CYB561_ENST00000582034.1_Missense_Mutation_p.S122F|CYB561_ENST00000581573.1_Missense_Mutation_p.S151F|CYB561_ENST00000582297.1_Missense_Mutation_p.S151F|CYB561_ENST00000392975.2_Missense_Mutation_p.S151F|CYB561_ENST00000581163.1_5'UTR|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000542042.1_Missense_Mutation_p.S218F|CYB561_ENST00000360793.3_Missense_Mutation_p.S151F	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	151	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GCTCCGCAGGGAGAATGAAGC	0.627																																						ENST00000584031.1																			0				lung(2)|ovary(1)|prostate(1)	4						c.(499-501)Ccc>Tcc		cytochrome b561							64.0	74.0	70.0					17																	61512558		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61512558G>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.452C>T	17.37:g.61512558G>A	ENSP00000376702:p.Ser151Phe					CYB561_ENST00000582034.1_Missense_Mutation_p.S122F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000582297.1_Missense_Mutation_p.S151F|CYB561_ENST00000581573.1_Missense_Mutation_p.S151F|CYB561_ENST00000542042.1_Missense_Mutation_p.S218F|CYB561_ENST00000448884.2_Intron|CYB561_ENST00000582997.1_Missense_Mutation_p.S158F|CYB561_ENST00000392975.2_Missense_Mutation_p.S151F|CYB561_ENST00000392976.1_Missense_Mutation_p.S151F|CYB561_ENST00000360793.3_Missense_Mutation_p.S151F	p.P167S			P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	5	798	-			0			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.499C>T	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983278	0.18889	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000542042	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.57	5.57	0.84162	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.434032	0.27109	N	0.020884	T	0.60599	0.2281	M	0.80847	2.515	0.43688	D	0.996132	D;D	0.59357	0.985;0.983	P;P	0.54460	0.753;0.673	T	0.60378	-0.7275	10	0.34782	T	0.22	-17.2947	18.125	0.89583	0.0:0.0:1.0:0.0	.	218;151	F5H757;P49447	.;CY561_HUMAN	F	151;151;151;218	ENSP00000354028:S151F;ENSP00000376702:S151F;ENSP00000376701:S151F;ENSP00000442773:S218F	ENSP00000354028:S151F	S	-	2	0	CYB561	58866290	0.998000	0.40836	0.781000	0.31783	0.163000	0.22366	3.340000	0.52143	2.619000	0.88677	0.561000	0.74099	TCC		0.627	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		28	112	0	0	0	1	0	28	112				
FBN1	2200	broad.mit.edu	37	15	48936911	48936911	+	Missense_Mutation	SNP	G	G	A	rs193922218		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:48936911G>A	ENST00000316623.5	-	2	511	c.56C>T	c.(55-57)tCc>tTc	p.S19F	RP11-227D13.1_ENST00000558061.1_lincRNA|FBN1_ENST00000560355.1_Missense_Mutation_p.S19F	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	19					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTCGTGTAGGACGCTAAAAG	0.662																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(55-57)tCc>tTc		fibrillin 1							101.0	95.0	97.0					15																	48936911		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48936911G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.56C>T	15.37:g.48936911G>A	ENSP00000325527:p.Ser19Phe					FBN1_ENST00000560355.1_Missense_Mutation_p.S19F	p.S19F	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	2	511	-		all_lung(180;0.00279)	19					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.56C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135458	0.37728	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.81996	-1.56;0.63	4.61	4.61	0.57282	.	0.238599	0.36409	N	0.002619	T	0.81394	0.4813	N	0.14661	0.345	0.33516	D	0.591722	D	0.55605	0.972	D	0.69142	0.962	T	0.80395	-0.1400	10	0.15952	T	0.53	.	14.3312	0.66559	0.0:0.0:1.0:0.0	.	19	P35555	FBN1_HUMAN	F	19	ENSP00000325527:S19F;ENSP00000440294:S19F	ENSP00000325527:S19F	S	-	2	0	FBN1	46724203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.895000	0.63214	2.383000	0.81215	0.585000	0.79938	TCC		0.662	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			67	30	0	0	0	1	0	67	30				
TAS2R1	50834	broad.mit.edu	37	5	9630099	9630099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:9630099G>A	ENST00000382492.2	-	1	364	c.46C>T	c.(46-48)Caa>Taa	p.Q16*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	16					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAGAAATTGTATCACTGCA	0.338																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(46-48)Caa>Taa		taste receptor, type 2, member 1																																				SO:0001587	stop_gained	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9630099G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.46C>T	5.37:g.9630099G>A	ENSP00000371932:p.Gln16*					CTD-2001E22.1_ENST00000504182.2_RNA	p.Q16*	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	364	-			16					Q646G8	Nonsense_Mutation	SNP	ENST00000382492.2	37	c.46C>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258258	0.95368	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.22	4.35	0.52113	.	0.434971	0.20591	N	0.089343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2377	0.48951	0.0:0.0:0.8182:0.1818	.	.	.	.	X	16	.	.	Q	-	1	0	TAS2R1	9683099	0.201000	0.23410	0.303000	0.25071	0.022000	0.10575	1.378000	0.34328	1.427000	0.47276	0.655000	0.94253	CAA		0.338	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			17	48	0	0	0	1	0	17	48				
FTH1P3	2498	broad.mit.edu	37	5	17354524	17354524	+	lincRNA	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:17354524G>A	ENST00000511821.1	+	0	383				FTH1P10_ENST00000401830.3_RNA																							AGGTGGACGCGGTCGTCATGG	0.677																																						ENST00000511821.1																			0																																																			2498							g.chr5:17354524G>A																													5.37:g.17354524G>A						FTH1P10_ENST00000401830.3_RNA								0	383	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.677	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			13	24	0	0	0	1	0	13	24				
OR5H14	403273	broad.mit.edu	37	3	97868761	97868761	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:97868761T>G	ENST00000437310.1	+	1	592	c.532T>G	c.(532-534)Tac>Gac	p.Y178D	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	178						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACAACACTTTTACTGTGACAT	0.299																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(532-534)Tac>Gac		olfactory receptor, family 5, subfamily H, member 14							76.0	81.0	80.0					3																	97868761		2203	4298	6501	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868761T>G		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.532T>G	3.37:g.97868761T>G	ENSP00000401706:p.Tyr178Asp						p.Y178D	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	592	+			178					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.532T>G	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402404	0.42613	.	.	ENSG00000236032	ENST00000437310	T	0.00130	8.69	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.172903	0.27996	N	0.017012	T	0.00524	0.0017	M	0.91459	3.21	0.22827	N	0.998687	D	0.89917	1.0	D	0.83275	0.996	T	0.22906	-1.0203	10	0.87932	D	0	.	8.4219	0.32705	0.0:0.0:0.0:1.0	.	178	A6NHG9	O5H14_HUMAN	D	178	ENSP00000401706:Y178D	ENSP00000401706:Y178D	Y	+	1	0	OR5H14	99351451	0.844000	0.29557	0.775000	0.31657	0.106000	0.19336	3.927000	0.56499	1.132000	0.42129	0.164000	0.16699	TAC		0.299	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			88	85	0	0	0	1	0	88	85				
MT-ND2	4536	broad.mit.edu	37	M	2064	2064	+	5'Flank	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrM:2064A>G	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						ATTTGCCCACAGAACCCTCTA	0.388																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2064A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2064A>G	Exception_encountered							NR_039705.1						0	394	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.388	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		20	13	0	0	0	1	0	20	13				
OTOGL	283310	broad.mit.edu	37	12	80771803	80771803	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:80771803T>G	ENST00000547103.1	+	58	6980	c.6974T>G	c.(6973-6975)aTa>aGa	p.I2325R	OTOGL_ENST00000458043.2_Missense_Mutation_p.I2337R|OTOGL_ENST00000546620.1_Missense_Mutation_p.I356R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2325	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAGGAACCCATAGACTGTACG	0.408																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(7009-7011)aTa>aGa		otogelin-like							67.0	55.0	59.0					12																	80771803		2202	4300	6502	SO:0001583	missense	283310							g.chr12:80771803T>G	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6974T>G	12.37:g.80771803T>G	ENSP00000447211:p.Ile2325Arg					OTOGL_ENST00000547103.1_Missense_Mutation_p.I2325R|OTOGL_ENST00000546620.1_Missense_Mutation_p.I356R	p.I2337R	NM_173591.3	NP_775862.3					58	7016	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.7010T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.61|12.61	1.990829|1.990829	0.35131|0.35131	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620|ENST00000298820	T;T;T|.	0.15952|.	2.5;2.5;2.38|.	5.72|5.72	2.2|2.2	0.27929|0.27929	Cystine knot, C-terminal (2);|.	0.581111|.	0.17659|.	N|.	0.166399|.	T|.	0.32102|.	0.0818|.	L|L	0.28274|0.28274	0.84|0.84	0.09310|0.09310	N|N	1|1	B|.	0.26081|.	0.141|.	B|.	0.34590|.	0.186|.	T|.	0.21484|.	-1.0244|.	10|.	0.59425|.	D|.	0.04|.	.|.	9.4393|9.4393	0.38659|0.38659	0.0:0.2504:0.0:0.7496|0.0:0.2504:0.0:0.7496	.|.	702|.	Q3ZCN5|.	OTOGL_HUMAN|.	R|E	2325;2337;356|745	ENSP00000447211:I2325R;ENSP00000400895:I2337R;ENSP00000449094:I356R|.	ENSP00000400895:I2337R|.	I|X	+|+	2|1	0|0	OTOGL|OTOGL	79295934|79295934	0.258000|0.258000	0.24033|0.24033	0.461000|0.461000	0.27105|0.27105	0.817000|0.817000	0.46193|0.46193	1.512000|1.512000	0.35812|0.35812	0.999000|0.999000	0.39023|0.39023	-0.326000|-0.326000	0.08463|0.08463	ATA|TAG		0.408	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		6	7	0	0	0	1	0	6	7				
DPP4	1803	broad.mit.edu	37	2	162903977	162903977	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:162903977G>A	ENST00000360534.3	-	3	689	c.129C>T	c.(127-129)taC>taT	p.Y43Y		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	43					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAGTTAGAGTGTAAGTTTTGC	0.338																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(127-129)taC>taT		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						78.0	80.0	79.0					2																	162903977		2202	4300	6502	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162903977G>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.129C>T	2.37:g.162903977G>A							p.Y43Y	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			3	689	-			43					Q53TN1	Silent	SNP	ENST00000360534.3	37	c.129C>T	CCDS2216.1																																																																																				0.338	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			19	30	0	0	0	1	0	19	30				
PRKRA	8575	broad.mit.edu	37	2	179315021	179315021	+	Silent	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:179315021T>A	ENST00000325748.4	-	2	383	c.183A>T	c.(181-183)atA>atT	p.I61I	PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000432031.2_Silent_p.I50I|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000487082.1_Silent_p.I36I|DFNB59_ENST00000409117.3_5'Flank|DFNB59_ENST00000375129.4_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	61	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGGGCACGTGTATTTGCACAT	0.458																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(181-183)atA>atT		protein kinase, interferon-inducible double stranded RNA dependent activator							291.0	301.0	298.0					2																	179315021		2203	4300	6503	SO:0001819	synonymous_variant	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179315021T>A	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.183A>T	2.37:g.179315021T>A						PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000487082.1_Silent_p.I36I|PRKRA_ENST00000432031.2_Silent_p.I50I	p.I61I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		2	383	-			61			DRBM 1.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP	ENST00000325748.4	37	c.183A>T	CCDS2279.1																																																																																				0.458	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		84	187	0	0	0	1	0	84	187				
ZNF419	79744	broad.mit.edu	37	19	58004986	58004986	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:58004986A>G	ENST00000221735.7	+	5	1247	c.1061A>G	c.(1060-1062)cAc>cGc	p.H354R	ZNF419_ENST00000442920.2_Missense_Mutation_p.H341R|ZNF419_ENST00000347466.6_Missense_Mutation_p.H322R|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.H342R|ZNF419_ENST00000354197.4_Missense_Mutation_p.H342R|ZNF419_ENST00000415379.2_Missense_Mutation_p.H308R|ZNF419_ENST00000424930.2_Missense_Mutation_p.H355R			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTCTATAGCCACAAGTCCAAC	0.413																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1063-1065)cAc>cGc		zinc finger protein 419							81.0	84.0	83.0					19																	58004986		2202	4300	6502	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004986A>G	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1061A>G	19.37:g.58004986A>G	ENSP00000221735:p.His354Arg					ZNF419_ENST00000426954.2_Missense_Mutation_p.H342R|ZNF419_ENST00000415379.2_Missense_Mutation_p.H308R|ZNF419_ENST00000354197.4_Missense_Mutation_p.H342R|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.H341R|ZNF419_ENST00000221735.7_Missense_Mutation_p.H354R|ZNF419_ENST00000347466.6_Missense_Mutation_p.H322R	p.H355R	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1293	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	354					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.1064A>G	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785710	0.31593	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.17691	3.19;3.19;3.19;3.19;3.19;2.26;3.19	2.36	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	N	0.01751	-0.74	0.09310	N	1	B;P;P;P;B;P;B	0.47484	0.001;0.77;0.896;0.77;0.002;0.873;0.002	B;P;P;P;B;P;B	0.51550	0.002;0.481;0.673;0.583;0.002;0.544;0.002	T	0.12243	-1.0555	9	0.11485	T	0.65	.	3.1683	0.06544	0.6581:0.0:0.1348:0.2071	.	308;308;341;342;355;322;354	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	R	329;355;342;342;341;355;322;308;354	ENSP00000388864:H355R;ENSP00000390916:H342R;ENSP00000346136:H342R;ENSP00000414709:H341R;ENSP00000299860:H322R;ENSP00000392129:H308R;ENSP00000221735:H354R	ENSP00000221735:H354R	H	+	2	0	ZNF419	62696798	0.000000	0.05858	0.001000	0.08648	0.763000	0.43281	-1.515000	0.02252	0.151000	0.19162	0.172000	0.16884	CAC		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		39	77	0	0	0	1	0	39	77				
CAMTA1	23261	broad.mit.edu	37	1	7527898	7527898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:7527898C>A	ENST00000303635.7	+	6	654	c.447C>A	c.(445-447)taC>taA	p.Y149*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Y149*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGTGCTTGTACGGCTGCTATG	0.542			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(445-447)taC>taA		calmodulin binding transcription activator 1							279.0	246.0	257.0					1																	7527898		2203	4300	6503	SO:0001587	stop_gained	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7527898C>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.447C>A	1.37:g.7527898C>A	ENSP00000306522:p.Tyr149*					CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Y149*	p.Y149*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	6	654	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	149					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Nonsense_Mutation	SNP	ENST00000303635.7	37	c.447C>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	38	6.866516	0.97897	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	.	.	.	4.86	4.86	0.63082	.	0.319142	0.25601	N	0.029551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9948	9.1802	0.37136	0.0:0.9:0.0:0.1	.	.	.	.	X	149	.	ENSP00000306522:Y149X	Y	+	3	2	CAMTA1	7450485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.824000	0.48088	2.245000	0.73994	0.655000	0.94253	TAC		0.542	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		45	106	1	0	1.81118e-26	1	2.70142e-26	45	106				
CEACAM20	125931	broad.mit.edu	37	19	45015211	45015211	+	RNA	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:45015211C>T	ENST00000454753.1	-	0	1893							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGCAGCTTCGTCTGCAAGT	0.532																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							66.0	69.0	68.0					19																	45015211		1926	4126	6052			125931					integral to membrane		g.chr19:45015211C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015211C>T										Q6UY09	CEA20_HUMAN			0	1893	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.532	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		29	38	0	0	0	1	0	29	38				
MAGEB6	158809	broad.mit.edu	37	X	26212570	26212570	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:26212570G>A	ENST00000379034.1	+	2	756	c.607G>A	c.(607-609)Gcg>Acg	p.A203T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGCACGTTGGCGCAATTCCT	0.473																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(607-609)Gcg>Acg		melanoma antigen family B, 6							85.0	71.0	76.0					X																	26212570		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212570G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.607G>A	X.37:g.26212570G>A	ENSP00000368320:p.Ala203Thr						p.A203T	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	756	+			203			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.607G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580199	0.28180	.	.	ENSG00000176746	ENST00000379034	T	0.01821	4.62	3.1	0.418	0.16429	.	0.273455	0.28736	U	0.014320	T	0.01222	0.0040	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.46693	-0.9173	10	0.72032	D	0.01	.	2.99	0.05980	0.2744:0.2394:0.4862:0.0	.	203	Q8N7X4	MAGB6_HUMAN	T	203	ENSP00000368320:A203T	ENSP00000368320:A203T	A	+	1	0	MAGEB6	26122491	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.313000	0.08103	-0.032000	0.13758	0.594000	0.82650	GCG		0.473	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		39	49	0	0	0	1	0	39	49				
GEMIN4	50628	broad.mit.edu	37	17	650823	650823	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:650823C>A	ENST00000319004.5	-	2	578	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	GEMIN4_ENST00000576778.1_Missense_Mutation_p.A143S|GEMIN4_ENST00000437269.1_Missense_Mutation_p.A154S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	154					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGTCTTCGGCAGAAGTGTCA	0.572																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(427-429)Gcc>Tcc		gem (nuclear organelle) associated protein 4							110.0	116.0	114.0					17																	650823		2057	4186	6243	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650823C>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.460G>T	17.37:g.650823C>A	ENSP00000321706:p.Ala154Ser					GEMIN4_ENST00000319004.5_Missense_Mutation_p.A154S|GEMIN4_ENST00000437269.1_Missense_Mutation_p.A154S	p.A143S			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	1768	-		Myeloproliferative disorder(207;0.204)	154					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.427G>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.080198	0.00375	.	.	ENSG00000179409	ENST00000319004;ENST00000437269	T;T	0.10573	2.86;2.86	5.44	4.35	0.52113	.	0.338646	0.30556	N	0.009370	T	0.01870	0.0059	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42816	-0.9429	10	0.02654	T	1	-10.5597	5.4211	0.16400	0.5752:0.289:0.1358:0.0	.	154;154	E7EN12;P57678	.;GEMI4_HUMAN	S	154	ENSP00000321706:A154S;ENSP00000392460:A154S	ENSP00000321706:A154S	A	-	1	0	GEMIN4	597573	0.931000	0.31567	0.976000	0.42696	0.003000	0.03518	2.421000	0.44688	0.918000	0.36919	-0.256000	0.11100	GCC		0.572	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		53	49	1	0	2.29192e-23	1	3.3337e-23	53	49				
MAGEC1	9947	broad.mit.edu	37	X	140993651	140993651	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:140993651C>A	ENST00000285879.4	+	4	747	c.461C>A	c.(460-462)cCt>cAt	p.P154H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	154										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCAAAGTCCTTTTGAGGGT	0.493										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(460-462)cCt>cAt		melanoma antigen family C, 1							82.0	84.0	83.0					X																	140993651		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140993651C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.461C>A	X.37:g.140993651C>A	ENSP00000285879:p.Pro154His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P154H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	747	+	Acute lymphoblastic leukemia(192;6.56e-05)		154					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.461C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	0.159	-1.082846	0.01888	.	.	ENSG00000155495	ENST00000285879	T	0.03496	3.91	.	.	.	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.43950	0.437	T	0.45469	-0.9259	8	0.87932	D	0	.	3.8355	0.08893	0.0:0.6588:0.0:0.3412	.	154	O60732	MAGC1_HUMAN	H	154	ENSP00000285879:P154H	ENSP00000285879:P154H	P	+	2	0	MAGEC1	140821317	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.038000	0.13862	-0.000000	0.14550	-0.000000	0.15137	CCT		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		58	88	1	0	1.48341e-19	1	2.05037e-19	58	88				
FLNA	2316	broad.mit.edu	37	X	153581217	153581217	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:153581217G>A	ENST00000369850.3	-	39	6538	c.6302C>T	c.(6301-6303)aCg>aTg	p.T2101M	FLNA_ENST00000369856.3_Missense_Mutation_p.T234M|FLNA_ENST00000422373.1_Missense_Mutation_p.T2093M|FLNA_ENST00000344736.4_Missense_Mutation_p.T2061M|FLNA_ENST00000360319.4_Missense_Mutation_p.T2093M|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2101					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCCTGCACGTCCCGTCCTC	0.602																																						ENST00000422373.1																			0				breast(6)	6						c.(6277-6279)aCg>aTg		filamin A, alpha							108.0	109.0	109.0					X																	153581217		2157	4236	6393	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581217G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6302C>T	X.37:g.153581217G>A	ENSP00000358866:p.Thr2101Met					FLNA_ENST00000360319.4_Missense_Mutation_p.T2093M|FLNA_ENST00000369850.3_Missense_Mutation_p.T2101M|FLNA_ENST00000344736.4_Missense_Mutation_p.T2061M|FLNA_ENST00000369856.3_Missense_Mutation_p.T234M	p.T2093M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			38	6526	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2101					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6278C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366115	0.61513	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	H	0.94306	3.52	0.80722	D	1	D;D;D;D	0.89917	0.998;0.988;1.0;1.0	D;P;D;D	0.80764	0.943;0.824;0.994;0.994	D	0.97279	0.9916	10	0.87932	D	0	.	18.7428	0.91780	0.0:0.0:1.0:0.0	.	234;2093;2101;2101	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	M	2093;2093;2101;234;2061;82	ENSP00000353467:T2093M;ENSP00000416926:T2093M;ENSP00000358866:T2101M;ENSP00000358872:T234M;ENSP00000358863:T2061M;ENSP00000397824:T82M	ENSP00000358863:T2061M	T	-	2	0	FLNA	153234411	1.000000	0.71417	0.911000	0.35937	0.442000	0.32017	7.827000	0.86722	2.372000	0.80975	0.513000	0.50165	ACG		0.602	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			41	74	0	0	0	1	0	41	74				
DNAH8	1769	broad.mit.edu	37	6	38939426	38939426	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:38939426G>T	ENST00000359357.3	+	81	12113	c.11859G>T	c.(11857-11859)caG>caT	p.Q3953H	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q3917H|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q4170H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3953	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCTGATTCAGATGTCAATGC	0.423																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11857-11859)caG>caT		dynein, axonemal, heavy chain 8							154.0	125.0	135.0					6																	38939426		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38939426G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11859G>T	6.37:g.38939426G>T	ENSP00000352312:p.Gln3953His					DNAH8_ENST00000441566.1_Missense_Mutation_p.Q3917H|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q4170H	p.Q3953H							81	12113	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11859G>T		.	.	.	.	.	.	.	.	.	.	G	13.94	2.387595	0.42308	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08720	3.06;3.06;3.06	5.04	4.16	0.48862	Dynein heavy chain (1);	0.481214	0.22120	N	0.064353	T	0.04952	0.0133	L	0.59912	1.85	0.39403	D	0.966618	B;B	0.15473	0.01;0.013	B;B	0.23852	0.029;0.049	T	0.07347	-1.0777	10	0.48119	T	0.1	.	10.0748	0.42353	0.1543:0.0:0.8457:0.0	.	3917;3953	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	H	4158;4158;3953;3917	ENSP00000333363:Q4158H;ENSP00000352312:Q3953H;ENSP00000402294:Q3917H	ENSP00000333363:Q4158H	Q	+	3	2	DNAH8	39047404	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.854000	0.69503	2.335000	0.79485	0.555000	0.69702	CAG		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		18	41	1	0	1.00905e-13	1	1.28071e-13	18	41				
KLK15	55554	broad.mit.edu	37	19	51329147	51329147	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:51329147C>A	ENST00000598239.1	-	5	706	c.676G>T	c.(676-678)Ggt>Tgt	p.G226C	KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000326856.4_Missense_Mutation_p.G225C|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000416184.1_Missense_Mutation_p.G141C|KLK1_ENST00000448701.2_5'Flank	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGGACGTCACCCCAGGACACA	0.557																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(673-675)Ggt>Tgt		kallikrein-related peptidase 15							105.0	87.0	93.0					19																	51329147		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329147C>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.676G>T	19.37:g.51329147C>A	ENSP00000469315:p.Gly226Cys					KLK15_ENST00000598239.1_Missense_Mutation_p.G226C|KLK15_ENST00000416184.1_Missense_Mutation_p.G141C|KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000596931.1_3'UTR	p.G225C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	6	802	-		all_neural(266;0.057)	226			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.673G>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	16.62	3.174374	0.57692	.	.	ENSG00000174562	ENST00000326856;ENST00000416184	D	0.95690	-3.78	4.06	4.06	0.47325	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41500	D	0.000873	D	0.98767	0.9585	H	0.99454	4.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98701	1.0700	10	0.87932	D	0	.	14.0834	0.64939	0.0:1.0:0.0:0.0	.	225;141;226	Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;KLK15_HUMAN	C	226;141	ENSP00000415136:G141C	ENSP00000314783:G226C	G	-	1	0	KLK15	56020959	1.000000	0.71417	0.994000	0.49952	0.283000	0.27025	7.253000	0.78320	2.270000	0.75569	0.174000	0.16983	GGT		0.557	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		10	51	1	0	0.000442599	1	0.000463676	10	51				
ZNF630	57232	broad.mit.edu	37	X	47918112	47918112	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:47918112A>G	ENST00000409324.3	-	5	1945	c.1719T>C	c.(1717-1719)tgT>tgC	p.C573C	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Silent_p.C449C|ZNF630_ENST00000442455.3_Silent_p.C559C	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CACATTCACTACATTCATAGG	0.448																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(1345-1347)tgT>tgC		zinc finger protein 630							64.0	55.0	58.0					X																	47918112		2192	4288	6480	SO:0001819	synonymous_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918112A>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1719T>C	X.37:g.47918112A>G						ZNF630_ENST00000409324.3_Silent_p.C573C|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.C559C	p.C449C			Q2M218	ZN630_HUMAN			5	2281	-			573					F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	c.1347T>C	CCDS35237.2																																																																																				0.448	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		9	35	0	0	0	1	0	9	35				
HMGCR	3156	broad.mit.edu	37	5	74638523	74638523	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:74638523G>A	ENST00000287936.4	+	2	249	c.93G>A	c.(91-93)atG>atA	p.M31I	HMGCR_ENST00000511206.1_Missense_Mutation_p.M31I|HMGCR_ENST00000343975.5_Missense_Mutation_p.M31I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	31					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCATCTGCATGATGTCCATGA	0.413																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(91-93)atG>atA		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						157.0	136.0	143.0					5																	74638523		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74638523G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.93G>A	5.37:g.74638523G>A	ENSP00000287936:p.Met31Ile					HMGCR_ENST00000343975.5_Missense_Mutation_p.M31I|HMGCR_ENST00000511206.1_Missense_Mutation_p.M31I	p.M31I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	2	249	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	31					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.93G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171202	0.57584	.	.	ENSG00000113161	ENST00000511206;ENST00000287936;ENST00000343975;ENST00000507942;ENST00000429286	T;T;T	0.42513	1.0;1.0;0.97	5.78	5.78	0.91487	.	0.034511	0.85682	D	0.000000	T	0.35038	0.0918	N	0.26042	0.785	0.80722	D	1	B;B;B	0.19445	0.036;0.029;0.036	B;B;B	0.16289	0.012;0.015;0.012	T	0.04840	-1.0923	10	0.31617	T	0.26	-22.2067	20.3754	0.98918	0.0:0.0:1.0:0.0	.	31;31;31	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	I	31	ENSP00000426745:M31I;ENSP00000287936:M31I;ENSP00000340816:M31I	ENSP00000287936:M31I	M	+	3	0	HMGCR	74674279	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.294000	0.65687	2.894000	0.99253	0.591000	0.81541	ATG		0.413	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			19	48	0	0	0	1	0	19	48				
SAFB	6294	broad.mit.edu	37	19	5654186	5654186	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:5654186A>G	ENST00000292123.5	+	12	1748	c.1641A>G	c.(1639-1641)tcA>tcG	p.S547S	SAFB_ENST00000433404.1_Silent_p.S377S|SAFB_ENST00000592224.1_Silent_p.S547S|SAFB_ENST00000538656.1_Silent_p.S390S|SAFB_ENST00000454510.1_Silent_p.S478S|SAFB_ENST00000588852.1_Silent_p.S547S	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	547	Interaction with POLR2A.				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)		CTGGCCCCTCAGAGCGATCTC	0.478																																					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.(1639-1641)tcA>tcG		scaffold attachment factor B							83.0	77.0	79.0					19																	5654186		2203	4300	6503	SO:0001819	synonymous_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5654186A>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.1641A>G	19.37:g.5654186A>G						SAFB_ENST00000538656.1_Silent_p.S390S|SAFB_ENST00000454510.1_Silent_p.S478S|SAFB_ENST00000433404.1_Silent_p.S377S|SAFB_ENST00000592224.1_Silent_p.S547S|SAFB_ENST00000588852.1_Silent_p.S547S	p.S547S	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)	12	1748	+			547			Interaction with POLR2A.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	ENST00000292123.5	37	c.1641A>G	CCDS12142.1																																																																																				0.478	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			24	25	0	0	0	1	0	24	25				
CHST13	166012	broad.mit.edu	37	3	126261419	126261419	+	Nonstop_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:126261419T>A	ENST00000319340.2	+	3	1074	c.1024T>A	c.(1024-1026)Tag>Aag	p.*342K		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	0					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCGGCTGCTCTAGCGGTCCTG	0.642																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1024-1026)Tag>Aag		carbohydrate (chondroitin 4) sulfotransferase 13							11.0	12.0	12.0					3																	126261419		1618	3276	4894	SO:0001578	stop_lost	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126261419T>A	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.1024T>A	3.37:g.126261419T>A	ENSP00000317404:p.*342Lysext*222						p.*342K	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	1074	+			0					Q3SYA3|Q3SYA5	Nonstop_Mutation	SNP	ENST00000319340.2	37	c.1024T>A	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	T	2.670	-0.277742	0.05679	.	.	ENSG00000180767	ENST00000319340	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.36014	D	0.838265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6764	0.45789	0.0:0.0:0.0:1.0	.	.	.	.	K	342	.	.	X	+	1	0	CHST13	127744109	0.868000	0.29978	0.694000	0.30210	0.098000	0.18820	2.527000	0.45615	1.395000	0.46643	0.260000	0.18958	TAG		0.642	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		4	29	0	0	0	1	0	4	29				
FLNC	2318	broad.mit.edu	37	7	128490862	128490862	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:128490862G>T	ENST00000325888.8	+	33	5665	c.5404G>T	c.(5404-5406)Gtg>Ttg	p.V1802L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V1769L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1802					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCAGGAGAGGTGCGGATGCC	0.627																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5404-5406)Gtg>Ttg		filamin C, gamma							70.0	75.0	73.0					7																	128490862		2151	4231	6382	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490862G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5404G>T	7.37:g.128490862G>T	ENSP00000327145:p.Val1802Leu					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V1769L	p.V1802L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			33	5665	+			1802					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5404G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499857	0.96355	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.53206	0.63;0.63	5.34	5.34	0.76211	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.85373	2.75	0.80722	D	1	D;B	0.53312	0.959;0.248	D;B	0.76071	0.987;0.272	T	0.77378	-0.2610	10	0.62326	D	0.03	.	19.0452	0.93016	0.0:0.0:1.0:0.0	.	1769;1802	Q14315-2;Q14315	.;FLNC_HUMAN	L	1802;1769	ENSP00000327145:V1802L;ENSP00000344002:V1769L	ENSP00000327145:V1802L	V	+	1	0	FLNC	128278098	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.827000	0.99397	2.479000	0.83701	0.655000	0.94253	GTG		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			37	51	1	0	1.30015e-28	1	1.97264e-28	37	51				
PAPPA2	60676	broad.mit.edu	37	1	176734869	176734869	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:176734869G>C	ENST00000367662.3	+	15	5383	c.4219G>C	c.(4219-4221)Gtg>Ctg	p.V1407L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1407	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCTGATGTGGTGAACTGTAC	0.512																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4219-4221)Gtg>Ctg		pappalysin 2							188.0	183.0	184.0					1																	176734869		2086	4224	6310	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734869G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4219G>C	1.37:g.176734869G>C	ENSP00000356634:p.Val1407Leu						p.V1407L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			15	5383	+			1407			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4219G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938908	0.34189	.	.	ENSG00000116183	ENST00000367662	T	0.01599	4.74	5.69	5.69	0.88448	Sushi/SCR/CCP (1);	0.483859	0.21267	N	0.077399	T	0.01870	0.0059	L	0.37800	1.135	0.80722	D	1	B	0.17667	0.023	B	0.19148	0.024	T	0.57335	-0.7829	10	0.20046	T	0.44	-12.0609	8.3831	0.32483	0.0815:0.1569:0.7616:0.0	.	1407	Q9BXP8	PAPP2_HUMAN	L	1407	ENSP00000356634:V1407L	ENSP00000356634:V1407L	V	+	1	0	PAPPA2	175001492	0.999000	0.42202	0.997000	0.53966	0.860000	0.49131	2.594000	0.46189	2.691000	0.91804	0.655000	0.94253	GTG		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			43	87	0	0	0	1	0	43	87				
EVPL	2125	broad.mit.edu	37	17	74004760	74004760	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:74004760A>T	ENST00000301607.3	-	22	4779	c.4526T>A	c.(4525-4527)cTc>cAc	p.L1509H	EVPL_ENST00000586740.1_Missense_Mutation_p.L1531H|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1509	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCTTTCTGGAGGACGTCAAT	0.592																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4525-4527)cTc>cAc		envoplakin							186.0	149.0	162.0					17																	74004760		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004760A>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4526T>A	17.37:g.74004760A>T	ENSP00000301607:p.Leu1509His					EVPL_ENST00000586740.1_Missense_Mutation_p.L1531H	p.L1509H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4779	-			1509			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4526T>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315160	0.40996	.	.	ENSG00000167880	ENST00000301607	T	0.61859	0.07	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000003	T	0.76630	0.4014	M	0.81802	2.56	0.49687	D	0.999815	D;D	0.89917	1.0;1.0	D;D	0.91635	0.963;0.999	T	0.80582	-0.1318	10	0.72032	D	0.01	-11.6723	14.483	0.67594	1.0:0.0:0.0:0.0	.	1531;1509	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1509	ENSP00000301607:L1509H	ENSP00000301607:L1509H	L	-	2	0	EVPL	71516355	1.000000	0.71417	0.910000	0.35882	0.202000	0.24057	9.190000	0.94934	1.834000	0.53371	0.459000	0.35465	CTC		0.592	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		39	166	0	0	0	1	0	39	166				
JAG1	182	broad.mit.edu	37	20	10629271	10629271	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:10629271C>A	ENST00000254958.5	-	12	2010	c.1495G>T	c.(1495-1497)Ggg>Tgg	p.G499W	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.G340W	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	499	EGF-like 8; calcium-binding. {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						CAGTGACCCCCATTCAAACAG	0.493									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	GRCh37	CD972286	JAG1	D		c.(1495-1497)Ggg>Tgg		jagged 1							76.0	72.0	73.0					20																	10629271		2203	4300	6503	SO:0001583	missense	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.chr20:10629271C>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.1495G>T	20.37:g.10629271C>A	ENSP00000254958:p.Gly499Trp					JAG1_ENST00000423891.2_Missense_Mutation_p.G340W	p.G499W	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			12	2010	-			499			EGF-like 8; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.1495G>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836343	0.91117	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.96459	-4.02;-4.02	5.67	5.67	0.87782	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.046141	0.85682	D	0.000000	D	0.98654	0.9549	H	0.98721	4.31	0.80722	D	1	B	0.29481	0.245	B	0.43155	0.41	D	0.98402	1.0568	10	0.72032	D	0.01	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	499	P78504	JAG1_HUMAN	W	499;340	ENSP00000254958:G499W;ENSP00000389519:G340W	ENSP00000254958:G499W	G	-	1	0	JAG1	10577271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.686000	0.91538	0.561000	0.74099	GGG		0.493	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		26	42	1	0	3.65163e-15	1	4.74892e-15	26	42				
CD163L1	283316	broad.mit.edu	37	12	7585151	7585151	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:7585151A>G	ENST00000313599.3	-	4	684	c.627T>C	c.(625-627)aaT>aaC	p.N209N	CD163L1_ENST00000416109.2_Silent_p.N219N|CD163L1_ENST00000396630.1_Silent_p.N209N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	209	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCAGGGCTATTAACAACTC	0.473																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(625-627)aaT>aaC		CD163 molecule-like 1							103.0	92.0	95.0					12																	7585151		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7585151A>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.627T>C	12.37:g.7585151A>G						CD163L1_ENST00000416109.2_Silent_p.N219N|CD163L1_ENST00000396630.1_Silent_p.N209N	p.N209N			Q9NR16	C163B_HUMAN			4	684	-			209			SRCR 2.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.627T>C	CCDS8577.1																																																																																				0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		23	44	0	0	0	1	0	23	44				
EFHC2	80258	broad.mit.edu	37	X	44088978	44088978	+	Silent	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:44088978T>C	ENST00000420999.1	-	11	1751	c.1668A>G	c.(1666-1668)gaA>gaG	p.E556E		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	556							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ATTTTCCTTCTTCTTGCTTCA	0.373																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1666-1668)gaA>gaG		EF-hand domain (C-terminal) containing 2							193.0	166.0	175.0					X																	44088978		1859	4088	5947	SO:0001819	synonymous_variant	80258						calcium ion binding	g.chrX:44088978T>C	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1668A>G	X.37:g.44088978T>C							p.E556E	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			11	1751	-			556					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Silent	SNP	ENST00000420999.1	37	c.1668A>G	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	T	2.844	-0.239884	0.05944	.	.	ENSG00000183690	ENST00000441230	.	.	.	5.45	4.3	0.51218	.	.	.	.	.	T	0.34716	0.0907	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.22452	-1.0216	4	.	.	.	-1.2891	6.6721	0.23074	0.1382:0.0766:0.0:0.7853	.	.	.	.	G	537	.	.	R	-	1	2	EFHC2	43973922	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.051000	0.14141	0.727000	0.32360	0.486000	0.48141	AGA		0.373	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		21	59	0	0	0	1	0	21	59				
ZNF587B	100293516	broad.mit.edu	37	19	58353072	58353072	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:58353072C>A	ENST00000442832.4	+	3	1264	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.H344N	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	344					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CCTTAAGAGTCATCAGCGCAT	0.448																																						ENST00000442832.4																			0											c.(1030-1032)Cat>Aat		zinc finger protein 587B																																				SO:0001583	missense	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58353072C>A	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.1030C>A	19.37:g.58353072C>A	ENSP00000392410:p.His344Asn					ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.H344N|CTD-2583A14.10_ENST00000598031.1_Intron	p.H344N	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN			3	1264	+			344					B4DR41	Missense_Mutation	SNP	ENST00000442832.4	37	c.1030C>A	CCDS56109.1	.	.	.	.	.	.	.	.	.	.	.	15.87	2.960210	0.53400	.	.	ENSG00000198466	ENST00000442832	D	0.86865	-2.18	2.1	2.1	0.27182	.	.	.	.	.	D	0.94486	0.8225	H	0.94183	3.505	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96223	0.9162	7	.	.	.	.	11.2579	0.49065	0.0:1.0:0.0:0.0	.	344;293	E7ETH6;Q92967	.;.	N	344	ENSP00000392410:H344N	.	H	+	1	0	ZNF587	63044884	1.000000	0.71417	0.008000	0.14137	0.004000	0.04260	6.232000	0.72313	1.181000	0.42912	0.306000	0.20318	CAT		0.448	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		9	12	1	0	0.00621372	1	0.00644566	9	12				
ZNF587B	100293516	broad.mit.edu	37	19	58353079	58353079	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:58353079G>T	ENST00000442832.4	+	3	1271	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.R346L	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	346					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGTCATCAGCGCATTCACACT	0.448																																						ENST00000442832.4																			0											c.(1036-1038)cGc>cTc		zinc finger protein 587B																																				SO:0001583	missense	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58353079G>T	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.1037G>T	19.37:g.58353079G>T	ENSP00000392410:p.Arg346Leu					ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.R346L|CTD-2583A14.10_ENST00000598031.1_Intron	p.R346L	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN			3	1271	+			346					B4DR41	Missense_Mutation	SNP	ENST00000442832.4	37	c.1037G>T	CCDS56109.1	.	.	.	.	.	.	.	.	.	.	.	14.84	2.655586	0.47467	.	.	ENSG00000198466	ENST00000442832	T	0.25085	1.82	2.1	0.792	0.18625	.	.	.	.	.	T	0.32704	0.0838	L	0.28556	0.865	.	.	.	D;D	0.89917	1.0;0.999	D;P	0.73708	0.981;0.901	T	0.42258	-0.9462	7	.	.	.	.	9.6459	0.39868	0.0:0.2162:0.7838:0.0	.	346;295	E7ETH6;Q92967	.;.	L	346	ENSP00000392410:R346L	.	R	+	2	0	ZNF587	63044891	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.145000	0.16157	1.181000	0.42912	0.306000	0.20318	CGC		0.448	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		6	18	1	0	3.59834e-05	1	3.8538e-05	6	18				
FAM122A	116224	broad.mit.edu	37	9	71395383	71395383	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:71395383G>A	ENST00000394264.3	+	1	420	c.303G>A	c.(301-303)acG>acA	p.T101T	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	101										endometrium(1)|lung(2)	3						ACCGAGAGACGGTCCACGAAC	0.602																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(301-303)acG>acA		family with sequence similarity 122A							141.0	143.0	143.0					9																	71395383		2203	4300	6503	SO:0001819	synonymous_variant	116224							g.chr9:71395383G>A	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.303G>A	9.37:g.71395383G>A						PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	p.T101T	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	420	+			101						Silent	SNP	ENST00000394264.3	37	c.303G>A	CCDS6623.1																																																																																				0.602	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		61	59	0	0	0	1	0	61	59				
NLRP3	114548	broad.mit.edu	37	1	247597412	247597412	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:247597412C>G	ENST00000336119.3	+	5	3081	c.2335C>G	c.(2335-2337)Cgc>Ggc	p.R779G	NLRP3_ENST00000391827.2_Missense_Mutation_p.R722G|NLRP3_ENST00000366497.2_Missense_Mutation_p.R779G|NLRP3_ENST00000348069.2_Missense_Mutation_p.R722G|NLRP3_ENST00000391828.3_Missense_Mutation_p.R779G|NLRP3_ENST00000366496.2_Missense_Mutation_p.R779G	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	779					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGGTTGGGGCGCTGTGGCCT	0.562																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2335-2337)Cgc>Ggc		NLR family, pyrin domain containing 3							129.0	123.0	125.0					1																	247597412		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597412C>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2335C>G	1.37:g.247597412C>G	ENSP00000337383:p.Arg779Gly					NLRP3_ENST00000391827.2_Missense_Mutation_p.R722G|NLRP3_ENST00000366496.2_Missense_Mutation_p.R779G|NLRP3_ENST00000336119.3_Missense_Mutation_p.R779G|NLRP3_ENST00000391828.3_Missense_Mutation_p.R779G|NLRP3_ENST00000348069.2_Missense_Mutation_p.R722G	p.R779G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	3115	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	836					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2335C>G	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	c	6.857	0.527363	0.13066	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.90261	0.76;0.76;0.76;-2.64;0.76;-2.64	3.44	3.44	0.39384	.	0.583196	0.14358	N	0.324673	T	0.82171	0.4979	N	0.16602	0.42	0.20873	N	0.999836	B;B;B;B	0.28713	0.036;0.22;0.055;0.002	B;B;B;B	0.29716	0.055;0.106;0.045;0.006	T	0.67975	-0.5531	10	0.17369	T	0.5	.	13.27	0.60155	0.0:1.0:0.0:0.0	.	722;722;779;779	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	G	779;779;779;722;779;722	ENSP00000375704:R779G;ENSP00000355453:R779G;ENSP00000337383:R779G;ENSP00000294752:R722G;ENSP00000355452:R779G;ENSP00000375703:R722G	ENSP00000337383:R779G	R	+	1	0	NLRP3	245664035	0.000000	0.05858	0.906000	0.35671	0.217000	0.24651	-0.927000	0.03984	2.254000	0.74563	0.472000	0.43445	CGC		0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		67	93	0	0	0	1	0	67	93				
G6PC3	92579	broad.mit.edu	37	17	42153198	42153198	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:42153198A>G	ENST00000269097.4	+	6	1059	c.828A>G	c.(826-828)gcA>gcG	p.A276A		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	276					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCGTCGGGCACAGCTGGGAA	0.662																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(826-828)gcA>gcG		glucose 6 phosphatase, catalytic, 3							52.0	52.0	52.0					17																	42153198		2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153198A>G	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.828A>G	17.37:g.42153198A>G							p.A276A	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1059	+		Breast(137;0.00637)|Prostate(33;0.0313)	276					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.828A>G	CCDS11476.1																																																																																				0.662	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		6	69	0	0	0	1	0	6	69				
DUSP13	51207	broad.mit.edu	37	10	76854571	76854571	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:76854571T>C	ENST00000472493.2	-	4	538	c.460A>G	c.(460-462)Atg>Gtg	p.M154V	DUSP13_ENST00000605915.1_Missense_Mutation_p.M176V|DUSP13_ENST00000464872.1_Missense_Mutation_p.M103V|DUSP13_ENST00000372700.3_Missense_Mutation_p.M204V|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000607131.1_Missense_Mutation_p.M247V|DUSP13_ENST00000491677.2_Missense_Mutation_p.M283V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_Missense_Mutation_p.M290V	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	154	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCACAGATCATGAGGAAGGCC	0.587																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(847-849)Atg>Gtg		dual specificity phosphatase 13							110.0	77.0	88.0					10																	76854571		2203	4300	6503	SO:0001583	missense	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854571T>C	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.460A>G	10.37:g.76854571T>C	ENSP00000444580:p.Met154Val					DUSP13_ENST00000605915.1_Missense_Mutation_p.M176V|DUSP13_ENST00000607131.1_Missense_Mutation_p.M247V|DUSP13_ENST00000464872.1_Missense_Mutation_p.M103V|DUSP13_ENST00000472493.2_Missense_Mutation_p.M154V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.M204V|DUSP13_ENST00000478873.2_Missense_Mutation_p.M290V	p.M283V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1389	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		145					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.847A>G	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615747	0.87359	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.37	5.37	0.77165	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	M	0.91818	3.245	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97139	0.9823	10	0.87932	D	0	-0.1784	15.3709	0.74564	0.0:0.0:0.0:1.0	.	204;283;154	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	154;154;283;247;103;204	ENSP00000311051:M154V;ENSP00000444580:M154V;ENSP00000436312:M283V;ENSP00000434041:M103V;ENSP00000361785:M204V	ENSP00000311051:M154V	M	-	1	0	DUSP13	76524577	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.609000	0.82925	2.031000	0.59945	0.533000	0.62120	ATG		0.587	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			17	33	0	0	0	1	0	17	33				
TGIF2LX	90316	broad.mit.edu	37	X	89177261	89177261	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:89177261C>A	ENST00000561129.2	+	1	307	c.177C>A	c.(175-177)gcC>gcA	p.A59A	TGIF2LX_ENST00000283891.5_Silent_p.A59A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ACTTGCCAGCCGAGTCCGTTA	0.483																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(175-177)gcC>gcA		TGFB-induced factor homeobox 2-like, X-linked							32.0	31.0	32.0					X																	89177261		2200	4279	6479	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177261C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.177C>A	X.37:g.89177261C>A						TGIF2LX_ENST00000283891.5_Silent_p.A59A	p.A59A			Q8IUE1	TF2LX_HUMAN			1	307	+			59					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.177C>A	CCDS14459.1																																																																																				0.483	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		21	45	1	0	2.81731e-10	1	3.35032e-10	21	45				
APOB	338	broad.mit.edu	37	2	21242604	21242604	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:21242604C>G	ENST00000233242.1	-	19	3117	c.2990G>C	c.(2989-2991)gGg>gCg	p.G997A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	997					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGTGTCCCCGGTCAGCGG	0.527																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2989-2991)gGg>gCg		apolipoprotein B	Atorvastatin(DB01076)						75.0	67.0	70.0					2																	21242604		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21242604C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2990G>C	2.37:g.21242604C>G	ENSP00000233242:p.Gly997Ala						p.G997A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			19	3117	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		997					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2990G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989951	0.74589	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.60424	0.19	5.23	5.23	0.72850	Lipid transport protein, beta-sheet shell (1);Lipid transport, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.184736	0.38272	N	0.001760	T	0.74450	0.3718	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.75382	-0.3337	10	0.56958	D	0.05	.	19.1698	0.93572	0.0:1.0:0.0:0.0	.	997	P04114	APOB_HUMAN	A	997	ENSP00000233242:G997A	ENSP00000233242:G997A	G	-	2	0	APOB	21096109	1.000000	0.71417	0.332000	0.25469	0.496000	0.33645	5.986000	0.70563	2.622000	0.88805	0.655000	0.94253	GGG		0.527	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			15	22	0	0	0	1	0	15	22				
TAS2R46	259292	broad.mit.edu	37	12	11214435	11214435	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:11214435T>C	ENST00000533467.1	-	1	458	c.459A>G	c.(457-459)atA>atG	p.I153M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	153					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CTTTTGTCCATATAATCTGAT	0.358																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(457-459)atA>atG		taste receptor, type 2, member 46							125.0	134.0	131.0					12																	11214435		2142	4284	6426	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214435T>C	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.459A>G	12.37:g.11214435T>C	ENSP00000436450:p.Ile153Met					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I153M	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	458	-			153					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.459A>G	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	T	0.647	-0.811137	0.02798	.	.	ENSG00000226761	ENST00000533467	T	0.37584	1.19	2.37	-4.74	0.03249	.	.	.	.	.	T	0.10809	0.0264	N	0.01874	-0.695	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.19549	-1.0302	9	0.25751	T	0.34	.	3.8396	0.08909	0.4547:0.2447:0.0:0.3006	.	153	P59540	T2R46_HUMAN	M	153	ENSP00000436450:I153M	ENSP00000436450:I153M	I	-	3	3	TAS2R46	11105702	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.888000	0.00341	-1.873000	0.01135	0.163000	0.16589	ATA		0.358	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		28	59	0	0	0	1	0	28	59				
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM994513	TP53	M		c.(472-474)cGc>cTc	Other conserved DNA damage response genes	tumor protein p53							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L	p.R158L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	605	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	30	1	0	3.66082e-28	1	5.50687e-28	36	30				
ACE2	59272	broad.mit.edu	37	X	15593813	15593813	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:15593813C>A	ENST00000252519.3	-	10	1520	c.1418G>T	c.(1417-1419)tGg>tTg	p.W473L	ACE2_ENST00000427411.1_Missense_Mutation_p.W473L			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	473					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CTTTTTCATCCACTGGTCTTT	0.393																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(1417-1419)tGg>tTg		angiotensin I converting enzyme 2	Moexipril(DB00691)						213.0	177.0	189.0					X																	15593813		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15593813C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1418G>T	X.37:g.15593813C>A	ENSP00000252519:p.Trp473Leu					ACE2_ENST00000252519.3_Missense_Mutation_p.W473L	p.W473L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			11	1634	-	Hepatocellular(33;0.183)		473					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.1418G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431816	0.83776	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.30981	1.51;1.51	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	M	0.81179	2.53	0.58432	D	0.999998	D	0.65815	0.995	P	0.60473	0.875	T	0.60571	-0.7237	10	0.56958	D	0.05	-4.3791	19.0201	0.92910	0.0:1.0:0.0:0.0	.	473	Q9BYF1	ACE2_HUMAN	L	473	ENSP00000252519:W473L;ENSP00000389326:W473L	ENSP00000252519:W473L	W	-	2	0	ACE2	15503734	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.042000	0.70996	2.441000	0.82636	0.600000	0.82982	TGG		0.393	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			17	59	1	0	3.52763e-06	1	3.85629e-06	17	59				
ATAD3B	83858	broad.mit.edu	37	1	1417974	1417974	+	Missense_Mutation	SNP	C	C	T	rs3979437		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:1417974C>T	ENST00000308647.7	+	7	846	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ATAD3B_ENST00000378741.3_Missense_Mutation_p.R76W|ATAD3B_ENST00000378736.3_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	244						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTGACAGACCGGGACAAAGT	0.587																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(730-732)Cgg>Tgg		ATPase family, AAA domain containing 3B							101.0	120.0	113.0					1																	1417974		2203	4299	6502	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1417974C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.730C>T	1.37:g.1417974C>T	ENSP00000311766:p.Arg244Trp					ATAD3B_ENST00000378741.3_Missense_Mutation_p.R76W|ATAD3B_ENST00000378736.2_3'UTR	p.R244W	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	7	846	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	244					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.730C>T	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	4.284	0.051819	0.08291	.	.	ENSG00000160072	ENST00000360489;ENST00000378741;ENST00000378737;ENST00000308647;ENST00000378736	D	0.93763	-3.28	2.68	0.136	0.14780	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.126915	0.56097	N	0.000022	T	0.77301	0.4110	N	0.00890	-1.11	0.28338	N	0.92148	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.69716	-0.5070	10	0.59425	D	0.04	.	9.2749	0.37694	0.0:0.1178:0.0:0.8822	rs3979437	198;244	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	W	138;76;59;244;76	ENSP00000311766:R244W	ENSP00000311766:R244W	R	+	1	2	ATAD3B	1407837	1.000000	0.71417	0.994000	0.49952	0.006000	0.05464	3.592000	0.53993	-0.464000	0.06963	-2.696000	0.00138	CGG		0.587	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		30	118	0	0	0	1	0	30	118				
TUBE1	51175	broad.mit.edu	37	6	112392689	112392689	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:112392689G>T	ENST00000368662.5	-	12	1432	c.1354C>A	c.(1354-1356)Cag>Aag	p.Q452K	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	452					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TCATATTCCTGTATGAGTGCT	0.383																																						ENST00000368662.5																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1354-1356)Cag>Aag		tubulin, epsilon 1							164.0	152.0	156.0					6																	112392689		2203	4300	6503	SO:0001583	missense	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112392689G>T	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.1354C>A	6.37:g.112392689G>T	ENSP00000357651:p.Gln452Lys					TUBE1_ENST00000604814.1_5'UTR	p.Q452K	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	12	1432	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	452					Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	c.1354C>A	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697849	0.30142	.	.	ENSG00000074935	ENST00000368662	T	0.76186	-1.0	5.62	2.71	0.32032	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.164905	0.52532	D	0.000072	T	0.36413	0.0966	N	0.02315	-0.6	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30238	-0.9985	10	0.87932	D	0	.	17.0158	0.86419	0.0:0.725:0.275:0.0	.	452	Q9UJT0	TBE_HUMAN	K	452	ENSP00000357651:Q452K	ENSP00000357651:Q452K	Q	-	1	0	TUBE1	112499382	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.331000	0.43894	0.677000	0.31305	0.655000	0.94253	CAG		0.383	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		43	84	1	0	6.68952e-21	1	9.41885e-21	43	84				
TAB3	257397	broad.mit.edu	37	X	30873140	30873140	+	Silent	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:30873140T>C	ENST00000378933.1	-	3	819	c.642A>G	c.(640-642)caA>caG	p.Q214Q	TAB3_ENST00000378930.3_Silent_p.Q214Q|TAB3_ENST00000378932.2_Silent_p.Q214Q|TAB3_ENST00000288422.2_Silent_p.Q214Q|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	214	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTGGAAGAATTTGTAAAGCTC	0.408																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(640-642)caA>caG		TGF-beta activated kinase 1/MAP3K7 binding protein 3							64.0	60.0	61.0					X																	30873140		2202	4300	6502	SO:0001819	synonymous_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873140T>C	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.642A>G	X.37:g.30873140T>C						TAB3_ENST00000378932.2_Silent_p.Q214Q|TAB3_ENST00000378930.3_Silent_p.Q214Q|TAB3_ENST00000288422.2_Silent_p.Q214Q	p.Q214Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	819	-			214			Pro-rich.		A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	c.642A>G	CCDS14226.1																																																																																				0.408	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		11	39	0	0	0	1	0	11	39				
SLC44A5	204962	broad.mit.edu	37	1	75688105	75688105	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:75688105C>T	ENST00000370855.5	-	14	1139	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	SLC44A5_ENST00000370859.3_Missense_Mutation_p.M342I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.M212I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	342					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGAAGATCAGCATGAGGATGA	0.398																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1024-1026)atG>atA		solute carrier family 44, member 5							131.0	116.0	121.0					1																	75688105		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75688105C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1026G>A	1.37:g.75688105C>T	ENSP00000359892:p.Met342Ile					SLC44A5_ENST00000370859.3_Missense_Mutation_p.M342I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.M212I	p.M342I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			14	1139	-			342					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1026G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408878	0.25378	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.20200	2.09;2.09;2.09	5.18	4.26	0.50523	.	0.547535	0.22077	N	0.064958	T	0.05593	0.0147	N	0.13371	0.34	0.40016	D	0.975341	B;B;B;B;B	0.13594	0.005;0.002;0.008;0.006;0.001	B;B;B;B;B	0.14023	0.01;0.01;0.01;0.006;0.006	T	0.17501	-1.0367	10	0.16420	T	0.52	-1.3718	16.7352	0.85445	0.0:0.8706:0.1294:0.0	.	336;381;342;342;381	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	342;381;342;212;335	ENSP00000359896:M342I;ENSP00000359892:M342I;ENSP00000443090:M212I	ENSP00000359892:M342I	M	-	3	0	SLC44A5	75460693	1.000000	0.71417	0.933000	0.37362	0.447000	0.32167	1.575000	0.36493	1.485000	0.48380	0.655000	0.94253	ATG		0.398	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		15	39	0	0	0	1	0	15	39				
FBN1	2200	broad.mit.edu	37	15	48789568	48789568	+	Missense_Mutation	SNP	C	C	A	rs199625633		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:48789568C>A	ENST00000316623.5	-	19	2643	c.2188G>T	c.(2188-2190)Gat>Tat	p.D730Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	730	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATATCAGGATCTAGTGCACAT	0.308																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2188-2190)Gat>Tat		fibrillin 1							109.0	102.0	105.0					15																	48789568		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48789568C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2188G>T	15.37:g.48789568C>A	ENSP00000325527:p.Asp730Tyr						p.D730Y	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	19	2643	-		all_lung(180;0.00279)	730			EGF-like 11; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2188G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722039	0.89298	.	.	ENSG00000166147	ENST00000316623	D	0.87103	-2.21	5.92	5.92	0.95590	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91195	0.4987	10	0.49607	T	0.09	.	18.8908	0.92403	0.0:1.0:0.0:0.0	.	730	P35555	FBN1_HUMAN	Y	730	ENSP00000325527:D730Y	ENSP00000325527:D730Y	D	-	1	0	FBN1	46576860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.616000	0.61197	2.794000	0.96219	0.650000	0.86243	GAT		0.308	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			61	18	1	0	1.88225e-35	1	2.90593e-35	61	18				
FZD6	8323	broad.mit.edu	37	8	104337544	104337544	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:104337544G>T	ENST00000358755.4	+	4	1527	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C	FZD6_ENST00000523739.1_Missense_Mutation_p.G372C|FZD6_ENST00000540287.1_Missense_Mutation_p.G99C|FZD6_ENST00000522566.1_Missense_Mutation_p.G404C	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	404					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ACAACATGATGGCCGGAACCA	0.408																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1210-1212)Ggc>Tgc		frizzled family receptor 6							168.0	164.0	165.0					8																	104337544		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337544G>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1210G>T	8.37:g.104337544G>T	ENSP00000351605:p.Gly404Cys					FZD6_ENST00000540287.1_Missense_Mutation_p.G99C|FZD6_ENST00000523739.1_Missense_Mutation_p.G372C|FZD6_ENST00000522566.1_Missense_Mutation_p.G404C	p.G404C	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1527	+			404					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1210G>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050200	0.75846	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.185629	0.51477	D	0.000084	D	0.92051	0.7481	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.78314	0.986;0.991;0.99;0.986	D	0.91934	0.5557	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	349;99;404;404	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	C	404;404;372;99;349	ENSP00000429055:G404C;ENSP00000351605:G404C;ENSP00000429528:G372C;ENSP00000443757:G99C	ENSP00000351605:G404C	G	+	1	0	FZD6	104406720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.753000	0.74904	2.868000	0.98415	0.557000	0.71058	GGC		0.408	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		75	130	1	0	1.64915e-30	1	2.50937e-30	75	130				
STARD13	90627	broad.mit.edu	37	13	33685003	33685003	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr13:33685003C>T	ENST00000336934.5	-	11	2765	c.2649G>A	c.(2647-2649)gtG>gtA	p.V883V	STARD13_ENST00000399365.3_Silent_p.V765V|STARD13_ENST00000255486.4_Silent_p.V875V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	883					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCTCAGCCTCCACATACGAGT	0.547																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2647-2649)gtG>gtA		StAR-related lipid transfer (START) domain containing 13							128.0	91.0	104.0					13																	33685003		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33685003C>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2649G>A	13.37:g.33685003C>T						STARD13_ENST00000255486.4_Silent_p.V875V|STARD13_ENST00000399365.3_Silent_p.V765V	p.V883V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	11	2765	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	883					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.2649G>A	CCDS9348.1																																																																																				0.547	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		26	29	0	0	0	1	0	26	29				
TMC7	79905	broad.mit.edu	37	16	19056269	19056269	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:19056269A>G	ENST00000304381.5	+	10	1531	c.1401A>G	c.(1399-1401)acA>acG	p.T467T	TMC7_ENST00000569532.1_Silent_p.T467T|TMC7_ENST00000421369.3_Silent_p.T357T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	467					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCAAGATCACATCCTGTGATG	0.572																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1069-1071)acA>acG		transmembrane channel-like 7							120.0	107.0	112.0					16																	19056269		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19056269A>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1401A>G	16.37:g.19056269A>G						TMC7_ENST00000304381.5_Silent_p.T467T|TMC7_ENST00000569532.1_Silent_p.T467T	p.T357T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			10	1629	+			467					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.1071A>G	CCDS10573.1																																																																																				0.572	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		52	87	0	0	0	1	0	52	87				
ITGA4	3676	broad.mit.edu	37	2	182363456	182363456	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:182363456G>A	ENST00000397033.2	+	15	2077	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	549					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAAGCATACAGGTGTCCAGCA	0.368																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1645-1647)caG>caA		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						99.0	97.0	98.0					2																	182363456		2009	4176	6185	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182363456G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1647G>A	2.37:g.182363456G>A							p.Q549Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		15	2077	+			549					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1647G>A	CCDS42788.1																																																																																				0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			28	45	0	0	0	1	0	28	45				
TMEM199	147007	broad.mit.edu	37	17	26684727	26684727	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:26684727G>T	ENST00000292114.3	+	1	124	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.V12L|TMEM199_ENST00000581386.1_3'UTR|POLDIP2_ENST00000003607.4_5'Flank|TMEM199_ENST00000395404.3_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000540200.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	12						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGAGCGATTGGTGCGTGCTTT	0.697																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(34-36)Gtg>Ttg		transmembrane protein 199							53.0	61.0	58.0					17																	26684727		2203	4299	6502	SO:0001583	missense	147007					integral to membrane		g.chr17:26684727G>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.34G>T	17.37:g.26684727G>T	ENSP00000292114:p.Val12Leu					TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.V12L	p.V12L	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	1	124	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		12						Missense_Mutation	SNP	ENST00000292114.3	37	c.34G>T	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	7.085	0.571017	0.13623	.	.	ENSG00000244045	ENST00000292114;ENST00000509083	T;T	0.34667	1.47;1.35	4.73	0.0864	0.14446	.	0.685163	0.14399	N	0.322047	T	0.10981	0.0268	N	0.03608	-0.345	0.09310	N	1	B;B	0.26195	0.144;0.0	B;B	0.20767	0.031;0.0	T	0.33497	-0.9866	10	0.02654	T	1	-4.7467	5.684	0.17792	0.1979:0.4142:0.3879:0.0	.	12;12	E9PBQ3;Q8N511	.;TM199_HUMAN	L	12	ENSP00000292114:V12L;ENSP00000427614:V12L	ENSP00000292114:V12L	V	+	1	0	TMEM199	23708854	0.000000	0.05858	0.006000	0.13384	0.038000	0.13279	-0.769000	0.04710	0.206000	0.20587	-0.291000	0.09656	GTG		0.697	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		52	70	1	0	2.48254e-18	1	3.38703e-18	52	70				
OR1J4	26219	broad.mit.edu	37	9	125281774	125281774	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:125281774G>C	ENST00000340750.1	+	1	355	c.355G>C	c.(355-357)Gca>Cca	p.A119P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACTTCAATGGCATACGATCG	0.433																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(355-357)Gca>Cca		olfactory receptor, family 1, subfamily J, member 4							189.0	160.0	170.0					9																	125281774		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281774G>C	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.355G>C	9.37:g.125281774G>C	ENSP00000343521:p.Ala119Pro						p.A119P	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	355	+			119					A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.355G>C	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520581	0.64747	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.56103	0.48	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34628	U	0.003819	D	0.82866	0.5130	H	0.97611	4.04	0.52501	D	0.99995	D	0.89917	1.0	D	0.87578	0.998	D	0.87152	0.2209	10	0.51188	T	0.08	.	18.4898	0.90843	0.0:0.0:1.0:0.0	.	119	Q8NGS1	OR1J4_HUMAN	P	285;119	ENSP00000343521:A119P	ENSP00000407987:A285P	A	+	1	0	OR1J2;OR1J4	124321595	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	5.480000	0.66820	2.902000	0.99343	0.650000	0.86243	GCA		0.433	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			39	34	0	0	0	1	0	39	34				
DNAH10	196385	broad.mit.edu	37	12	124364348	124364348	+	Splice_Site	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:124364348G>A	ENST00000409039.3	+	49	8305	c.8280G>A	c.(8278-8280)caG>caA	p.Q2760Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2760					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTCTGTTCCAGGTGGGGATGA	0.592																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.e49+1		dynein, axonemal, heavy chain 10							158.0	156.0	157.0					12																	124364348		2043	4187	6230	SO:0001630	splice_region_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124364348G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8280+1G>A	12.37:g.124364348G>A							p.Q2760_splice	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	49	8305	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2760					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Splice_Site	SNP	ENST00000409039.3	37	c.8280_splice	CCDS9255.2																																																																																				0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Silent	53	151	0	0	0	1	0	53	151				
ZXDB	158586	broad.mit.edu	37	X	57618883	57618883	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:57618883G>T	ENST00000374888.1	+	1	615	c.402G>T	c.(400-402)gcG>gcT	p.A134A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						AGAGCGGCGCGAATCCCGCGG	0.791																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(400-402)gcG>gcT		zinc finger, X-linked, duplicated B							3.0	5.0	4.0					X																	57618883		1693	3507	5200	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618883G>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.402G>T	X.37:g.57618883G>T							p.A134A	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	615	+			134					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.402G>T	CCDS35313.1																																																																																				0.791	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		5	11	1	0	1.23904e-05	1	1.33786e-05	5	11				
TRBC2	28638	broad.mit.edu	37	7	142499645	142499645	+	RNA	SNP	G	G	T	rs376747191		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:142499645G>T	ENST00000466254.1	+	0	405							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											CTTCACCTCCGGTAAGTGAGT	0.507																																						ENST00000466254.1																			0																				477.0	458.0	464.0					7																	142499645		1969	4162	6131			28638							g.chr7:142499645G>T	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499645G>T														0	405	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.507	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		102	234	1	0	5.1993e-48	1	8.19471e-48	102	234				
FNDC4	64838	broad.mit.edu	37	2	27716862	27716862	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:27716862C>A	ENST00000264703.3	-	4	780	c.389G>T	c.(388-390)gGg>gTg	p.G130V	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	130	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CACCCGGGGCCCTGGGGGACT	0.602																																						ENST00000264703.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(388-390)gGg>gTg		fibronectin type III domain containing 4							65.0	74.0	71.0					2																	27716862		2203	4300	6503	SO:0001583	missense	64838					integral to membrane		g.chr2:27716862C>A	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.389G>T	2.37:g.27716862C>A	ENSP00000264703:p.Gly130Val						p.G130V	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN			4	780	-	Acute lymphoblastic leukemia(172;0.155)		130			Fibronectin type-III.		D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.389G>T	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800186	0.70567	.	.	ENSG00000115226	ENST00000264703	T	0.76709	-1.04	5.18	5.18	0.71444	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.138996	0.64402	D	0.000006	T	0.73575	0.3604	N	0.22421	0.69	0.58432	D	0.999997	P	0.49185	0.92	P	0.48334	0.574	T	0.78026	-0.2365	10	0.66056	D	0.02	-43.488	17.2406	0.87013	0.0:1.0:0.0:0.0	.	130	Q9H6D8	FNDC4_HUMAN	V	130	ENSP00000264703:G130V	ENSP00000264703:G130V	G	-	2	0	FNDC4	27570366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.385000	0.66231	2.417000	0.82017	0.462000	0.41574	GGG		0.602	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		29	69	1	0	3.80469e-20	1	5.31449e-20	29	69				
TTN	7273	broad.mit.edu	37	2	179402257	179402257	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:179402257G>T	ENST00000591111.1	-	305	94978	c.94754C>A	c.(94753-94755)cCt>cAt	p.P31585H	TTN_ENST00000342175.6_Missense_Mutation_p.P24353H|TTN_ENST00000589042.1_Missense_Mutation_p.P33226H|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P24161H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P24286H|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30658H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	31585					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)			AGTCATGGCAGGTACTGGACG	0.423																																						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.(99676-99678)cCt>cAt		titin							86.0	80.0	82.0					2																	179402257		1875	4100	5975	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402257G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94754C>A	2.37:g.179402257G>T	ENSP00000465570:p.Pro31585His					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P31585H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P24161H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P24353H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P24286H|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30658H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.P33226H	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)		355	99901	-			31585					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.99677C>A		.	.	.	.	.	.	.	.	.	.	G	18.86	3.712678	0.68730	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.89	5.89	0.94794	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89594	0.6760	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90653	0.4584	9	0.87932	D	0	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	24161;24286;24353;31585	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30658;24161;24353;24286;24158	ENSP00000343764:P30658H;ENSP00000434586:P24161H;ENSP00000340554:P24353H;ENSP00000352154:P24286H	ENSP00000340554:P24353H	P	-	2	0	TTN	179110503	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.869000	0.99810	2.797000	0.96272	0.563000	0.77884	CCT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	40	1	0	5.26018e-13	1	6.55041e-13	21	40				
GDPD3	79153	broad.mit.edu	37	16	30123701	30123701	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:30123701C>T	ENST00000406256.3	-	5	786	c.409G>A	c.(409-411)Gac>Aac	p.D137N	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	137	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TGGAACAGGTCCTCCAGACGA	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(409-411)Gac>Aac		glycerophosphodiester phosphodiesterase domain containing 3							92.0	87.0	89.0					16																	30123701		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123701C>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.409G>A	16.37:g.30123701C>T	ENSP00000384363:p.Asp137Asn		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814		p.D137N	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			5	786	-			137			GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.409G>A	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119341	0.56505	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.14266	2.52	5.79	4.84	0.62591	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.149202	0.64402	N	0.000015	T	0.22589	0.0545	M	0.78049	2.395	0.45129	D	0.998148	B	0.31413	0.322	B	0.37550	0.253	T	0.02345	-1.1173	10	0.66056	D	0.02	.	10.9729	0.47448	0.0:0.914:0.0:0.086	.	137	Q7L5L3	GDPD3_HUMAN	N	137;75	ENSP00000384363:D137N	ENSP00000353909:D75N	D	-	1	0	GDPD3	30031202	1.000000	0.71417	0.990000	0.47175	0.425000	0.31504	5.518000	0.67068	1.444000	0.47605	-0.150000	0.13652	GAC		0.602	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		30	72	0	0	0	1	0	30	72				
METTL13	51603	broad.mit.edu	37	1	171755114	171755114	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:171755114G>T	ENST00000361735.3	+	3	1275	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	METTL13_ENST00000367737.5_Missense_Mutation_p.A181S|METTL13_ENST00000362019.3_Missense_Mutation_p.A251S|METTL13_ENST00000458517.1_Missense_Mutation_p.A336S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	337							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GATTACAGTGGCCCTTCACCG	0.607																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1009-1011)Gcc>Tcc		methyltransferase like 13							67.0	57.0	60.0					1																	171755114		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171755114G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1009G>T	1.37:g.171755114G>T	ENSP00000354920:p.Ala337Ser					METTL13_ENST00000458517.1_Missense_Mutation_p.A336S|METTL13_ENST00000362019.3_Missense_Mutation_p.A251S|METTL13_ENST00000367737.5_Missense_Mutation_p.A181S	p.A337S	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			3	1275	+			337					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1009G>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096421	0.20552	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.5	4.57	0.56435	.	0.289973	0.36893	N	0.002342	T	0.03827	0.0108	N	0.12746	0.255	0.43564	D	0.995889	B;P;B	0.51653	0.048;0.947;0.168	B;P;B	0.49421	0.018;0.61;0.018	T	0.48768	-0.9006	10	0.11794	T	0.64	-16.3395	14.5656	0.68173	0.0:0.0:0.8526:0.1474	.	336;181;337	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	S	336;251;181;337	ENSP00000401955:A336S;ENSP00000355393:A251S;ENSP00000356711:A181S;ENSP00000354920:A337S	ENSP00000354920:A337S	A	+	1	0	METTL13	170021737	1.000000	0.71417	0.997000	0.53966	0.217000	0.24651	3.914000	0.56401	1.515000	0.48885	0.655000	0.94253	GCC		0.607	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		8	17	1	0	1.06961e-07	1	1.20674e-07	8	17				
IL13RA1	3597	broad.mit.edu	37	X	117880934	117880934	+	Silent	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:117880934T>A	ENST00000371666.3	+	3	313	c.246T>A	c.(244-246)acT>acA	p.T82T	IL13RA1_ENST00000371642.1_Silent_p.T82T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	82	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						CTCCGGAAACTCGTCGTTCAA	0.408																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(244-246)acT>acA		interleukin 13 receptor, alpha 1							117.0	107.0	111.0					X																	117880934		2203	4300	6503	SO:0001819	synonymous_variant	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117880934T>A	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.246T>A	X.37:g.117880934T>A						IL13RA1_ENST00000371642.1_Silent_p.T82T	p.T82T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			3	313	+			82					O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	ENST00000371666.3	37	c.246T>A	CCDS14573.1																																																																																				0.408	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		21	65	0	0	0	1	0	21	65				
TTN	7273	broad.mit.edu	37	2	179447180	179447180	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:179447180G>T	ENST00000591111.1	-	264	61304	c.61080C>A	c.(61078-61080)ccC>ccA	p.P20360P	TTN_ENST00000342175.6_Silent_p.P13128P|TTN_ENST00000589042.1_Silent_p.P22001P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.P12936P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.P13061P|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.P19433P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590743.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20360	Fibronectin type-III 47. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCCCAGTTGGGCCTGCTTG	0.463																																						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.(66001-66003)ccC>ccA		titin							77.0	71.0	73.0					2																	179447180		1910	4129	6039	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447180G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61080C>A	2.37:g.179447180G>T						TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.P20360P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P12936P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.P13128P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.P13061P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.P19433P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.P22001P	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)		314	66227	-			20360			Ig-like 115.		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.66003C>A																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	32	1	0	9.16793e-09	1	1.05923e-08	16	32				
EYA1	2138	broad.mit.edu	37	8	72156891	72156891	+	Missense_Mutation	SNP	C	C	G	rs121909198		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:72156891C>G	ENST00000340726.3	-	12	1726	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q	EYA1_ENST00000419131.1_Intron|EYA1_ENST00000303824.7_Missense_Mutation_p.E357Q|EYA1_ENST00000388742.4_Missense_Mutation_p.E363Q|EYA1_ENST00000388741.2_Missense_Mutation_p.E329Q|EYA1_ENST00000388740.3_Missense_Mutation_p.E330Q|EYA1_ENST00000388743.2_Missense_Mutation_p.E362Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	363			E -> K (in ASA). {ECO:0000269|PubMed:10655545}.|E -> V (in BOR1). {ECO:0000269|PubMed:21280147}.		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)			ATCATTTCTTCCATTCGCAGT	0.333																																						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	CM000144	EYA1	M	rs121909198	c.(1087-1089)Gaa>Caa		eyes absent homolog 1 (Drosophila)							62.0	62.0	62.0					8																	72156891		2203	4300	6503	SO:0001583	missense	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.chr8:72156891C>G	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.1087G>C	8.37:g.72156891C>G	ENSP00000342626:p.Glu363Gln					EYA1_ENST00000388742.4_Missense_Mutation_p.E363Q|EYA1_ENST00000388741.2_Missense_Mutation_p.E329Q|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.E330Q|EYA1_ENST00000303824.7_Missense_Mutation_p.E357Q|EYA1_ENST00000388743.2_Missense_Mutation_p.E362Q	p.E363Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		12	1726	-	Breast(64;0.046)		363		E -> K (in anterior segment anomalies).|E -> V (in BOR1).			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1087G>C	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070412	0.93950	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.64	5.64	0.86602	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.994;0.987;0.993;0.988	D	0.92025	0.5629	10	0.87932	D	0	-22.4408	19.7123	0.96100	0.0:1.0:0.0:0.0	.	357;290;330;363	A6NCB9;Q0P517;Q99502-2;Q99502	.;.;.;EYA1_HUMAN	Q	363;363;331;330;357;329;362	ENSP00000373394:E363Q;ENSP00000342626:E363Q;ENSP00000373392:E330Q;ENSP00000303221:E357Q;ENSP00000373393:E329Q;ENSP00000373395:E362Q	ENSP00000303221:E357Q	E	-	1	0	EYA1	72319445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.664000	0.90586	0.650000	0.86243	GAA		0.333	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		4	20	0	0	0	1	0	4	20				
BTN1A1	696	broad.mit.edu	37	6	26502016	26502016	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:26502016G>T	ENST00000244513.6	+	2	344	c.278G>T	c.(277-279)gGg>gTg	p.G93V		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	93	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GAGTACCGCGGGCGGGCGACG	0.657																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(277-279)gGg>gTg		butyrophilin, subfamily 1, member A1							20.0	24.0	23.0					6																	26502016		2199	4290	6489	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26502016G>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.278G>T	6.37:g.26502016G>T	ENSP00000244513:p.Gly93Val						p.G93V	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			2	344	+			93			Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.278G>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351607	0.82132	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.71579	-0.58	6.08	6.08	0.98989	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.106098	0.43579	D	0.000557	D	0.88209	0.6375	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90820	0.4708	10	0.87932	D	0	.	16.1648	0.81747	0.0:0.0:1.0:0.0	.	93	Q13410	BT1A1_HUMAN	V	93	ENSP00000244513:G93V	ENSP00000244513:G93V	G	+	2	0	BTN1A1	26609995	0.999000	0.42202	0.236000	0.24074	0.053000	0.15095	3.743000	0.55104	2.890000	0.99128	0.655000	0.94253	GGG		0.657	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		16	23	1	0	1.3612e-06	1	1.50045e-06	16	23				
SVEP1	79987	broad.mit.edu	37	9	113312290	113312290	+	Missense_Mutation	SNP	G	G	T	rs376825059		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:113312290G>T	ENST00000401783.2	-	2	962	c.626C>A	c.(625-627)gCg>gAg	p.A209E	SVEP1_ENST00000374469.1_Missense_Mutation_p.A186E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.A209E|SVEP1_ENST00000374461.1_Missense_Mutation_p.A186E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	209	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCGCAGTGACGCTGCAATTGG	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(625-627)gCg>gAg		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							153.0	149.0	150.0					9																	113312290		1941	4152	6093	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312290G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.626C>A	9.37:g.113312290G>T	ENSP00000384917:p.Ala209Glu					SVEP1_ENST00000302728.8_Missense_Mutation_p.A209E|SVEP1_ENST00000374469.1_Missense_Mutation_p.A186E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.A186E	p.A209E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	962	-			209			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.626C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481741	0.44147	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.051454	0.85682	D	0.000000	T	0.77585	0.4152	N	0.21097	0.63	0.47476	D	0.999433	P;D;D	0.69078	0.954;0.976;0.997	P;P;D	0.63703	0.627;0.806;0.917	T	0.69558	-0.5113	10	0.02654	T	1	.	19.7555	0.96287	0.0:0.0:1.0:0.0	.	209;209;209	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	E	209;186;209;186	ENSP00000384917:A209E;ENSP00000363593:A186E;ENSP00000304118:A209E;ENSP00000363585:A186E	ENSP00000304118:A209E	A	-	2	0	SVEP1	112352111	1.000000	0.71417	0.249000	0.24280	0.468000	0.32798	9.341000	0.97041	2.737000	0.93849	0.563000	0.77884	GCG		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				36	27	1	0	1.22384e-17	1	1.64006e-17	36	27				
ZC3H6	376940	broad.mit.edu	37	2	113082627	113082627	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:113082627A>T	ENST00000409871.1	+	11	2340	c.1939A>T	c.(1939-1941)Agc>Tgc	p.S647C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S647C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	647							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGATGGCAGCAGCACTAGGAC	0.512																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(1939-1941)Agc>Tgc		zinc finger CCCH-type containing 6							63.0	63.0	63.0					2																	113082627		2048	4195	6243	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113082627A>T	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1939A>T	2.37:g.113082627A>T	ENSP00000386764:p.Ser647Cys					ZC3H6_ENST00000343936.4_Missense_Mutation_p.S647C	p.S647C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			11	2340	+			647					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.1939A>T	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221033	0.58560	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.17054	2.3;2.3	5.87	2.25	0.28309	.	0.887861	0.10267	N	0.695230	T	0.17066	0.0410	L	0.57536	1.79	0.09310	N	0.999998	B	0.14012	0.009	B	0.10450	0.005	T	0.30031	-0.9992	10	0.54805	T	0.06	-3.208	5.0084	0.14300	0.5936:0.0:0.2813:0.1251	.	647	P61129	ZC3H6_HUMAN	C	647;647;624	ENSP00000386764:S647C;ENSP00000340298:S647C	ENSP00000340298:S647C	S	+	1	0	ZC3H6	112799098	0.051000	0.20477	0.686000	0.30086	0.961000	0.63080	0.770000	0.26618	0.154000	0.19237	0.482000	0.46254	AGC		0.512	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		17	25	0	0	0	1	0	17	25				
ZFHX4	79776	broad.mit.edu	37	8	77617405	77617405	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:77617405G>T	ENST00000521891.2	+	2	1530	c.1082G>T	c.(1081-1083)cGc>cTc	p.R361L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R361L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R361L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R361L|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	361					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)			CCAACCTTCCGCGGTTTATGG	0.463										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.(1081-1083)cGc>cTc		zinc finger homeobox 4							94.0	86.0	89.0					8																	77617405		1831	4094	5925	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617405G>T		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.1082G>T	8.37:g.77617405G>T	ENSP00000430497:p.Arg361Leu	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.R361L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R361L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R361L	p.R361L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1530	+			361					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1082G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178763	0.38511	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51071	0.72;0.77;0.74;0.73	5.53	5.53	0.82687	.	0.000000	0.45361	U	0.000365	T	0.61248	0.2332	L	0.36672	1.1	0.80722	D	1	D;D;D;P	0.71674	0.997;0.998;0.998;0.906	D;D;D;B	0.80764	0.987;0.994;0.994;0.309	T	0.56768	-0.7924	10	0.41790	T	0.15	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	361;361;361;361	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	361	ENSP00000430497:R361L;ENSP00000399605:R361L;ENSP00000050961:R361L;ENSP00000430848:R361L	ENSP00000050961:R361L	R	+	2	0	ZFHX4	77779960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.430000	0.80321	2.882000	0.98803	0.655000	0.94253	CGC		0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		30	65	1	0	2.81731e-10	1	3.35032e-10	30	65				
CDH15	1013	broad.mit.edu	37	16	89260249	89260249	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:89260249G>T	ENST00000289746.2	+	13	2144	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	693					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ATGCCCCGCAGGGCCGCCTGC	0.682																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2077-2079)caG>caT		cadherin 15, type 1, M-cadherin (myotubule)							12.0	16.0	15.0					16																	89260249		2145	4247	6392	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89260249G>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2079G>T	16.37:g.89260249G>T	ENSP00000289746:p.Gln693His						p.Q693H	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	13	2144	+			693						Missense_Mutation	SNP	ENST00000289746.2	37	c.2079G>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	4.917	0.170364	0.09339	.	.	ENSG00000129910	ENST00000289746	T	0.77098	-1.07	4.52	-9.03	0.00737	Cadherin, cytoplasmic domain (1);	1.226840	0.06209	N	0.684607	T	0.39989	0.1099	N	0.01505	-0.83	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35400	-0.9790	10	0.16420	T	0.52	.	2.4515	0.04519	0.1648:0.2968:0.3351:0.2033	.	693	P55291	CAD15_HUMAN	H	693	ENSP00000289746:Q693H	ENSP00000289746:Q693H	Q	+	3	2	CDH15	87787750	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.407000	0.02488	-2.471000	0.00529	-1.121000	0.02013	CAG		0.682	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		12	5	1	0	3.27435e-08	1	3.73403e-08	12	5				
USP8	9101	broad.mit.edu	37	15	50773966	50773966	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:50773966G>C	ENST00000396444.3	+	11	1845	c.1507G>C	c.(1507-1509)Gcc>Ccc	p.A503P	USP8_ENST00000425032.3_Missense_Mutation_p.A426P|USP8_ENST00000307179.4_Missense_Mutation_p.A503P|USP8_ENST00000433963.1_Missense_Mutation_p.A503P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	503					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		agaacaaaaagccaaaaagaa	0.358																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1507-1509)Gcc>Ccc		ubiquitin specific peptidase 8							46.0	53.0	50.0					15																	50773966		2191	4283	6474	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50773966G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1507G>C	15.37:g.50773966G>C	ENSP00000379721:p.Ala503Pro					USP8_ENST00000307179.4_Missense_Mutation_p.A503P|USP8_ENST00000396444.3_Missense_Mutation_p.A503P|USP8_ENST00000425032.3_Missense_Mutation_p.A426P	p.A503P	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	12	2007	+			503					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1507G>C	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436421	0.25813	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.13	3.23	0.37069	.	1.089250	0.07028	N	0.827961	T	0.28200	0.0696	N	0.19112	0.55	0.21355	N	0.999714	B;B;B	0.19200	0.0;0.0;0.034	B;B;B	0.16722	0.001;0.001;0.016	T	0.26985	-1.0087	10	0.28530	T	0.3	-0.0073	6.4128	0.21700	0.2164:0.1328:0.6508:0.0	.	426;503;503	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	P	503;503;503;426	ENSP00000379721:A503P;ENSP00000405537:A503P;ENSP00000302239:A503P;ENSP00000412682:A426P	ENSP00000302239:A503P	A	+	1	0	USP8	48561258	1.000000	0.71417	0.996000	0.52242	0.878000	0.50629	4.011000	0.57124	0.548000	0.28955	-0.225000	0.12378	GCC		0.358	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		4	2	0	0	0	1	0	4	2				
KLHL11	55175	broad.mit.edu	37	17	40010890	40010890	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:40010890T>A	ENST00000319121.3	-	2	1289	c.1229A>T	c.(1228-1230)tAt>tTt	p.Y410F		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	410										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCCAGCAACATACACGTAGGA	0.408																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1228-1230)tAt>tTt		kelch-like family member 11							153.0	141.0	145.0					17																	40010890		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010890T>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1229A>T	17.37:g.40010890T>A	ENSP00000314608:p.Tyr410Phe						p.Y410F	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1289	-		Breast(137;0.00156)	410						Missense_Mutation	SNP	ENST00000319121.3	37	c.1229A>T	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750548	0.69533	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	D	0.90955	-2.76	5.42	5.42	0.78866	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.69463	2.115	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	D	0.93760	0.7066	10	0.42905	T	0.14	0.6739	15.7504	0.77980	0.0:0.0:0.0:1.0	.	410	Q9NVR0	KLH11_HUMAN	F	410;273	ENSP00000314608:Y410F	ENSP00000314608:Y410F	Y	-	2	0	KLHL11	37264416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.559000	0.82265	2.170000	0.68504	0.482000	0.46254	TAT		0.408	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		57	152	0	0	0	1	0	57	152				
ITGA11	22801	broad.mit.edu	37	15	68624335	68624335	+	Silent	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:68624335G>C	ENST00000315757.7	-	14	1718	c.1632C>G	c.(1630-1632)tcC>tcG	p.S544S	ITGA11_ENST00000423218.2_Silent_p.S544S	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	544					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						AGGCAATGGAGGACCCAAATC	0.532																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(1630-1632)tcC>tcG		integrin, alpha 11	Tirofiban(DB00775)						63.0	60.0	61.0					15																	68624335		1957	4150	6107	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68624335G>C	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1632C>G	15.37:g.68624335G>C						ITGA11_ENST00000315757.7_Silent_p.S544S	p.S544S			Q9UKX5	ITA11_HUMAN			14	1727	-			544					J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.1632C>G	CCDS45291.1																																																																																				0.532	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		7	15	0	0	0	1	0	7	15				
SRPK2	6733	broad.mit.edu	37	7	104800965	104800965	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:104800965T>C	ENST00000393651.3	-	7	697	c.610A>G	c.(610-612)Atc>Gtc	p.I204V	SRPK2_ENST00000357311.3_Missense_Mutation_p.I193V|SRPK2_ENST00000489828.1_Missense_Mutation_p.I193V	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TGTCGAATGATACTCTTCACA	0.448																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(577-579)Atc>Gtc		SRSF protein kinase 2							196.0	163.0	174.0					7																	104800965		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104800965T>C	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.610A>G	7.37:g.104800965T>C	ENSP00000377262:p.Ile204Val					SRPK2_ENST00000393651.3_Missense_Mutation_p.I204V|SRPK2_ENST00000489828.1_Missense_Mutation_p.I193V	p.I193V	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			6	748	-			193			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.577A>G	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984531	0.93044	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.24723	1.84;1.84;1.84	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.54863	1.705	0.80722	D	1	P;P	0.46220	0.847;0.874	P;D	0.64506	0.878;0.926	T	0.41124	-0.9526	10	0.87932	D	0	-11.4895	16.1708	0.81812	0.0:0.0:0.0:1.0	.	204;193	P78362-2;P78362	.;SRPK2_HUMAN	V	204;193;193	ENSP00000377262:I204V;ENSP00000349863:I193V;ENSP00000419791:I193V	ENSP00000349863:I193V	I	-	1	0	SRPK2	104588201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	ATC		0.448	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		28	53	0	0	0	1	0	28	53				
KBTBD3	143879	broad.mit.edu	37	11	105923675	105923675	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:105923675C>G	ENST00000526793.1	-	3	1900	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q	KBTBD3_ENST00000531837.1_Missense_Mutation_p.E581Q|KBTBD3_ENST00000534815.1_Missense_Mutation_p.E502Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	577										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GGTGAAACTTCTTCCCATTCA	0.378																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(1741-1743)Gaa>Caa		kelch repeat and BTB (POZ) domain containing 3							126.0	127.0	127.0					11																	105923675		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105923675C>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1741G>C	11.37:g.105923675C>G	ENSP00000436262:p.Glu581Gln					KBTBD3_ENST00000531837.1_Missense_Mutation_p.E581Q|KBTBD3_ENST00000534815.1_Missense_Mutation_p.E502Q	p.E581Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1900	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	577					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1741G>C	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365776	0.61513	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.78364	-1.17;-1.17;-1.17	5.93	5.93	0.95920	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	L	0.28014	0.82	0.58432	D	0.999999	D;D	0.89917	0.993;1.0	P;D	0.91635	0.874;0.999	T	0.74917	-0.3501	10	0.13853	T	0.58	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	581;577	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Q	502;581;581	ENSP00000431910:E502Q;ENSP00000436262:E581Q;ENSP00000432163:E581Q	ENSP00000436262:E581Q	E	-	1	0	KBTBD3	105428885	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.423000	0.80229	2.831000	0.97527	0.586000	0.80456	GAA		0.378	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		10	85	0	0	0	1	0	10	85				
NKAIN2	154215	broad.mit.edu	37	6	125112511	125112511	+	Silent	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:125112511T>C	ENST00000368417.1	+	5	561	c.501T>C	c.(499-501)taT>taC	p.Y167Y	NKAIN2_ENST00000545433.1_Silent_p.Y152Y|NKAIN2_ENST00000546092.1_Silent_p.Y100Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ACGCCTGTTATGTTGTGAAAT	0.408																																						ENST00000368417.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19						c.(499-501)taT>taC		Na+/K+ transporting ATPase interacting 2							210.0	176.0	188.0					6																	125112511		2203	4300	6503	SO:0001819	synonymous_variant	154215					integral to membrane|plasma membrane		g.chr6:125112511T>C	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.501T>C	6.37:g.125112511T>C						NKAIN2_ENST00000546092.1_Silent_p.Y100Y|NKAIN2_ENST00000545433.1_Silent_p.Y152Y	p.Y167Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	5	561	+			167					Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.501T>C	CCDS34526.1																																																																																				0.408	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		18	49	0	0	0	1	0	18	49				
HIST3H2BB	128312	broad.mit.edu	37	1	228645991	228645991	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:228645991G>A	ENST00000369160.2	+	1	184	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	54					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		skin(1)	1		Prostate(94;0.183)				CCCGACACCGGCATCTCGTCC	0.587																																						ENST00000369160.2																			2	Substitution - Missense(2)	p.G54D(2)	urinary_tract(1)|lung(1)	skin(1)	1						c.(160-162)gGc>gAc		histone cluster 3, H2bb							97.0	95.0	96.0					1																	228645991		2202	4278	6480	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645991G>A	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.161G>A	1.37:g.228645991G>A	ENSP00000375736:p.Gly54Asp						p.G54D	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	184	+		Prostate(94;0.183)	54					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.161G>A	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.229642	0.79688	.	.	ENSG00000196890	ENST00000369160	T	0.69435	-0.4	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.000000	0.46758	D	0.000262	D	0.87861	0.6284	H	0.98542	4.26	0.58432	D	0.999999	D	0.58970	0.984	D	0.68483	0.958	D	0.92053	0.5650	10	0.87932	D	0	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	54	Q8N257	H2B3B_HUMAN	D	54	ENSP00000375736:G54D	ENSP00000375736:G54D	G	+	2	0	HIST3H2BB	226712614	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.022000	0.76431	2.491000	0.84063	0.586000	0.80456	GGC		0.587	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		4	174	0	0	0	1	0	4	174				
OPRM1	4988	broad.mit.edu	37	6	154414491	154414491	+	Intron	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:154414491C>G	ENST00000330432.7	+	3	1401				OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000229768.5_Silent_p.V417V|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000435918.2_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GACCTCTTGTCAGATATGACC	0.512																																						ENST00000229768.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1249-1251)gtC>gtG		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						240.0	229.0	232.0					6																	154414491		1975	4164	6139	SO:0001627	intron_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154414491C>G	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1884C>G	6.37:g.154414491C>G						OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000434900.2_Intron	p.V417V	NM_001008505.1	NP_001008505.2	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1301	+		Ovarian(120;0.196)	0					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.1251C>G	CCDS55070.1																																																																																				0.512	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		68	156	0	0	0	1	0	68	156				
SCN11A	11280	broad.mit.edu	37	3	38888675	38888675	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:38888675A>T	ENST00000302328.3	-	26	5084	c.4886T>A	c.(4885-4887)gTg>gAg	p.V1629E	SCN11A_ENST00000450244.1_Missense_Mutation_p.V1629E|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1591E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1629					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTTTCCCACACTTCATAAAA	0.418																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4885-4887)gTg>gAg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						93.0	97.0	96.0					3																	38888675		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888675A>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4886T>A	3.37:g.38888675A>T	ENSP00000307599:p.Val1629Glu					SCN11A_ENST00000456224.3_Missense_Mutation_p.V1591E|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1629E	p.V1629E			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5084	-			1629					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4886T>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.281001	0.40394	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96745	-4.11;-4.11;-4.08	5.29	3.92	0.45320	.	0.295173	0.32918	N	0.005489	D	0.97081	0.9046	M	0.84773	2.715	0.09310	N	1	P	0.42337	0.776	P	0.51974	0.686	D	0.93057	0.6471	10	0.87932	D	0	.	9.8474	0.41034	0.8712:0.0:0.1288:0.0	.	1629	Q9UI33	SCNBA_HUMAN	E	1629;1629;1591	ENSP00000307599:V1629E;ENSP00000400945:V1629E;ENSP00000416757:V1591E	ENSP00000307599:V1629E	V	-	2	0	SCN11A	38863679	0.009000	0.17119	1.000000	0.80357	0.976000	0.68499	2.148000	0.42235	2.006000	0.58801	0.362000	0.22060	GTG		0.418	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		40	34	0	0	0	1	0	40	34				
UGT2B28	54490	broad.mit.edu	37	4	70146605	70146605	+	Silent	SNP	T	T	C	rs147283424	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:70146605T>C	ENST00000335568.5	+	1	389	c.387T>C	c.(385-387)gaT>gaC	p.D129D	UGT2B28_ENST00000511240.1_Silent_p.D129D	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	129					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTGTAAAGATGTAGTTTCAA	0.338													-|||	7	0.00139776	0.0053	0.0	5008	,	,		16045	0.0		0.0	False		,,,				2504	0.0					ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(385-387)gaT>gaC		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	T	,	9,4241		1,7,2117	57.0	72.0	67.0		387,387	-4.4	0.0	4	dbSNP_134	67	0,8550		0,0,4275	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	1,7,6392	CC,CT,TT		0.0,0.2118,0.0703	,	129/336,129/530	70146605	9,12791	2125	4275	6400	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146605T>C	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.387T>C	4.37:g.70146605T>C						UGT2B28_ENST00000511240.1_Silent_p.D129D	p.D129D	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	389	+			129					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.387T>C	CCDS3528.1																																																																																				0.338	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		33	70	0	0	0	1	0	33	70				
ERV3-1	2086	broad.mit.edu	37	7	64452411	64452411	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:64452411T>A	ENST00000394323.2	-	2	1494	c.994A>T	c.(994-996)Agc>Tgc	p.S332C	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	332						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						aaccagatgctctgacttgat	0.473																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(994-996)Agc>Tgc									103.0	96.0	98.0					7																	64452411		1869	4112	5981	SO:0001583	missense	2086					virion		g.chr7:64452411T>A	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.994A>T	7.37:g.64452411T>A	ENSP00000391594:p.Ser332Cys						p.S332C	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	1494	-			332						Missense_Mutation	SNP	ENST00000394323.2	37	c.994A>T	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.916563	0.33815	.	.	ENSG00000213462	ENST00000394323	T	0.13420	2.59	0.109	0.109	0.14578	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	P	0.45768	0.866	B	0.37550	0.253	T	0.31110	-0.9955	8	0.56958	D	0.05	.	.	.	.	.	332	Q14264	ENR1_HUMAN	C	332	ENSP00000391594:S332C	ENSP00000391594:S332C	S	-	1	0	ERV3-1	64089846	0.334000	0.24739	0.388000	0.26195	0.389000	0.30415	0.198000	0.17217	0.156000	0.19299	0.155000	0.16302	AGC		0.473	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		17	28	0	0	0	1	0	17	28				
ATP1A3	478	broad.mit.edu	37	19	42489324	42489324	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:42489324C>A	ENST00000302102.5	-	8	889	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L	ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V258L|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V260L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V217L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	247					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCACCACCACGCCCCGAGCC	0.677																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(778-780)Gtg>Ttg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							34.0	31.0	32.0					19																	42489324		2199	4299	6498	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489324C>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.739G>T	19.37:g.42489324C>A	ENSP00000302397:p.Val247Leu					ATP1A3_ENST00000543770.1_Missense_Mutation_p.V258L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V217L|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V247L	p.V260L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			8	931	-			247					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.778G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049997	0.36181	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	4.27	4.27	0.50696	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.144833	0.44902	D	0.000413	D	0.83482	0.5264	L	0.31420	0.93	0.44754	D	0.997759	B;B;B;B	0.16802	0.004;0.002;0.019;0.002	B;B;B;B	0.22753	0.02;0.01;0.041;0.01	T	0.78889	-0.2026	10	0.39692	T	0.17	.	8.4372	0.32795	0.0:0.8914:0.0:0.1086	.	260;258;247;247	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	L	247;247;260;217;258	ENSP00000302397:V247L;ENSP00000411503:V247L;ENSP00000444688:V260L;ENSP00000437577:V258L	ENSP00000302397:V247L	V	-	1	0	ATP1A3	47181164	0.972000	0.33761	0.991000	0.47740	0.731000	0.41821	2.065000	0.41442	2.117000	0.64856	0.478000	0.44815	GTG		0.677	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		11	20	1	0	1.08611e-07	1	1.21755e-07	11	20				
KIF26A	26153	broad.mit.edu	37	14	104640061	104640061	+	Missense_Mutation	SNP	G	G	T	rs376060067		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:104640061G>T	ENST00000423312.2	+	10	1886	c.1886G>T	c.(1885-1887)cGc>cTc	p.R629L	KIF26A_ENST00000315264.7_Missense_Mutation_p.R490L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	629	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCCGCAGCCGCCTGCACCTC	0.697																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1468-1470)cGc>cTc		kinesin family member 26A							19.0	26.0	24.0					14																	104640061		1942	4127	6069	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104640061G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1886G>T	14.37:g.104640061G>T	ENSP00000388241:p.Arg629Leu					KIF26A_ENST00000423312.2_Missense_Mutation_p.R629L	p.R490L			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	9	1847	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	629			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.1469G>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326110	0.95708	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.75589	-0.95;-0.95	4.95	4.95	0.65309	Kinesin, motor domain (5);	.	.	.	.	D	0.87055	0.6082	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88681	0.3202	9	0.62326	D	0.03	.	18.1568	0.89694	0.0:0.0:1.0:0.0	.	629	Q9ULI4	KI26A_HUMAN	L	629;490	ENSP00000388241:R629L;ENSP00000325452:R490L	ENSP00000325452:R490L	R	+	2	0	KIF26A	103709814	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.535000	0.98064	2.286000	0.76751	0.313000	0.20887	CGC		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			8	17	1	0	0.000157383	1	0.000166197	8	17				
ASH1L	55870	broad.mit.edu	37	1	155313242	155313242	+	Missense_Mutation	SNP	C	C	G	rs375304383		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:155313242C>G	ENST00000368346.3	-	24	8810	c.8171G>C	c.(8170-8172)cGt>cCt	p.R2724P	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.R2719P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2724	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGTGGGGACGGAAATAATG	0.463																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8170-8172)cGt>cCt		ash1 (absent, small, or homeotic)-like (Drosophila)							162.0	150.0	154.0					1																	155313242		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155313242C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8171G>C	1.37:g.155313242C>G	ENSP00000357330:p.Arg2724Pro					ASH1L_ENST00000392403.3_Missense_Mutation_p.R2719P	p.R2724P			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		24	8810	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2724			BAH.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8171G>C		.	.	.	.	.	.	.	.	.	.	C	33	5.277801	0.95459	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88664	-2.41;-2.41	5.3	5.3	0.74995	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94427	0.7646	10	0.87932	D	0	.	18.7281	0.91722	0.0:1.0:0.0:0.0	.	2724;2719	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	P	2724;2719	ENSP00000357330:R2724P;ENSP00000376204:R2719P	ENSP00000357330:R2724P	R	-	2	0	ASH1L	153579866	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	2.757000	0.94681	0.561000	0.74099	CGT		0.463	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		19	64	0	0	0	1	0	19	64				
CSMD1	64478	broad.mit.edu	37	8	3265578	3265578	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:3265578G>A	ENST00000520002.1	-	15	2472	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	CSMD1_ENST00000542608.1_Silent_p.L638L|CSMD1_ENST00000602557.1_Silent_p.L639L|CSMD1_ENST00000539096.1_Silent_p.L638L|CSMD1_ENST00000602723.1_Silent_p.L639L|CSMD1_ENST00000537824.1_Silent_p.L638L|CSMD1_ENST00000400186.3_Silent_p.L639L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	639	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTGACCGCGAGAAAGTCAA	0.458																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(1915-1917)ctC>ctT		CUB and Sushi multiple domains 1							87.0	78.0	81.0					8																	3265578		1917	4122	6039	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3265578G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1917C>T	8.37:g.3265578G>A						CSMD1_ENST00000539096.1_Silent_p.L638L|CSMD1_ENST00000537824.1_Silent_p.L638L|CSMD1_ENST00000602723.1_Silent_p.L639L|CSMD1_ENST00000400186.3_Silent_p.L639L|CSMD1_ENST00000602557.1_Silent_p.L639L|CSMD1_ENST00000542608.1_Silent_p.L638L	p.L639L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	15	2472	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	639			CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1917C>T		.	.	.	.	.	.	.	.	.	.	G	1.623	-0.521093	0.04171	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.23	-10.5	0.00291	.	.	.	.	.	T	0.45357	0.1338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57929	-0.7726	4	.	.	.	.	7.9473	0.29993	0.1828:0.4958:0.2512:0.0702	.	.	.	.	C	119	.	.	R	-	1	0	CSMD1	3252985	0.000000	0.05858	0.042000	0.18584	0.374000	0.29953	-2.249000	0.01188	-3.069000	0.00254	-0.600000	0.04104	CGC		0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	20	0	0	0	1	0	12	20				
CTNNA3	29119	broad.mit.edu	37	10	69281720	69281720	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:69281720C>A	ENST00000433211.2	-	5	634		c.e5-1		CTNNA3_ENST00000545309.1_Splice_Site|CTNNA3_ENST00000373744.4_Splice_Site	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCCTTTGAAACTGAAATTGAA	0.378																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.e5-1		catenin (cadherin-associated protein), alpha 3							71.0	72.0	72.0					10																	69281720		2203	4300	6503	SO:0001630	splice_region_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69281720C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.460-1G>T	10.37:g.69281720C>A						CTNNA3_ENST00000545309.1_Splice_Site|CTNNA3_ENST00000373744.4_Splice_Site		NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			5	634	-									Splice_Site	SNP	ENST00000433211.2	37		CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778749	0.70107	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2164	0.65795	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	68951726	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.597000	0.61062	2.430000	0.82344	0.467000	0.42956	.		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Intron	19	44	1	0	5.03518e-11	1	6.05598e-11	19	44				
DLG3	1741	broad.mit.edu	37	X	69671762	69671762	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:69671762T>G	ENST00000374360.3	+	7	1264	c.1031T>G	c.(1030-1032)cTg>cGg	p.L344R	RNU4-81P_ENST00000363561.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.L362R|DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000431103.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	344					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AATTCCAGCCTGGGTTATCTC	0.552											OREG0019853	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(1084-1086)cTg>cGg		discs, large homolog 3 (Drosophila)							84.0	69.0	74.0					X																	69671762		2203	4300	6503	SO:0001583	missense	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69671762T>G	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1031T>G	X.37:g.69671762T>G	ENSP00000363480:p.Leu344Arg		OREG0019853	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1116	DLG3_ENST00000374360.3_Missense_Mutation_p.L344R	p.L362R			Q92796	DLG3_HUMAN			8	1426	+	Renal(35;0.156)		344					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.1085T>G	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760468	0.69763	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.13196	2.62;2.61	3.93	3.93	0.45458	PDZ-associated domain of NMDA receptors (1);	0.142496	0.28996	U	0.013469	T	0.13798	0.0334	M	0.64997	1.995	0.80722	D	1	P	0.39665	0.682	B	0.33750	0.169	T	0.05084	-1.0907	9	.	.	.	.	11.3093	0.49353	0.0:0.0:0.0:1.0	.	344	Q92796	DLG3_HUMAN	R	362;344	ENSP00000194900:L362R;ENSP00000363480:L344R	.	L	+	2	0	DLG3	69588487	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.507000	0.60434	1.448000	0.47680	0.437000	0.28790	CTG		0.552	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		29	33	0	0	0	1	0	29	33				
PXDNL	137902	broad.mit.edu	37	8	52284441	52284441	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:52284441C>A	ENST00000356297.4	-	19	3993	c.3893G>T	c.(3892-3894)tGc>tTc	p.C1298F	PXDNL_ENST00000543296.1_Missense_Mutation_p.C1298F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1298					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACCTGCACAGCAGTCTTGCCA	0.458																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3892-3894)tGc>tTc		peroxidasin homolog (Drosophila)-like							54.0	53.0	54.0					8																	52284441		2052	4186	6238	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52284441C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3893G>T	8.37:g.52284441C>A	ENSP00000348645:p.Cys1298Phe					PXDNL_ENST00000543296.1_Missense_Mutation_p.C1298F	p.C1298F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			19	3993	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1298					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3893G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.403263|2.403263	0.42613|0.42613	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.66280	.|-0.2;-0.14	4.76|4.76	3.88|3.88	0.44766|0.44766	.|.	.|0.296926	.|0.25166	.|N	.|0.032640	T|T	0.77445|0.77445	0.4131|0.4131	M|M	0.81802|0.81802	2.56|2.56	0.45580|0.45580	D|D	0.99852|0.99852	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	T|T	0.79057|0.79057	-0.1959|-0.1959	5|10	.|0.87932	.|D	.|0	.|.	10.5122|10.5122	0.44868|0.44868	0.0:0.9032:0.0:0.0968|0.0:0.9032:0.0:0.0968	.|.	.|1298	.|A1KZ92	.|PXDNL_HUMAN	S|F	372|1298	.|ENSP00000348645:C1298F;ENSP00000444865:C1298F	.|ENSP00000348645:C1298F	A|C	-|-	1|2	0|0	PXDNL|PXDNL	52446994|52446994	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.202000|0.202000	0.24057|0.24057	6.739000|6.739000	0.74827|0.74827	1.015000|1.015000	0.39444|0.39444	0.491000|0.491000	0.48974|0.48974	GCT|TGC		0.458	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		10	23	1	0	7.48243e-07	1	8.29984e-07	10	23				
P2RX2	22953	broad.mit.edu	37	12	133195507	133195507	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:133195507G>A	ENST00000389110.3	+	1	142	c.105G>A	c.(103-105)gtG>gtA	p.V35V	P2RX2_ENST00000352418.4_Splice_Site_p.V35V|P2RX2_ENST00000351222.4_Splice_Site_p.V35V|P2RX2_ENST00000350048.5_Silent_p.V35V|P2RX2_ENST00000348800.5_Silent_p.V35V|P2RX2_ENST00000449132.2_Silent_p.V35V|P2RX2_ENST00000343948.4_Silent_p.V35V	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	35					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGGTGATCGTGGTGAGGAACC	0.756																																						ENST00000352418.4																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.e1+1		purinergic receptor P2X, ligand-gated ion channel, 2							22.0	24.0	23.0					12																	133195507		2192	4276	6468	SO:0001819	synonymous_variant	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133195507G>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.105G>A	12.37:g.133195507G>A						P2RX2_ENST00000449132.2_Silent_p.V35V|P2RX2_ENST00000389110.3_Silent_p.V35V|P2RX2_ENST00000351222.4_Splice_Site_p.V35_splice|P2RX2_ENST00000350048.5_Silent_p.V35V|P2RX2_ENST00000348800.5_Silent_p.V35V|P2RX2_ENST00000343948.4_Silent_p.V35V	p.V35_splice	NM_012226.3	NP_036358.2	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	1	105	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	35					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Splice_Site	SNP	ENST00000389110.3	37	c.105_splice	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377914	0.42105	.	.	ENSG00000187848	ENST00000542301	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.1316	15.9135	0.79491	0.0:0.0:1.0:0.0	.	.	.	.	X	34	.	.	W	+	2	0	P2RX2	131705580	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	2.258000	0.43249	1.827000	0.53221	0.484000	0.47621	TGG		0.756	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			11	23	0	0	0	1	0	11	23				
PAPPA2	60676	broad.mit.edu	37	1	176664955	176664955	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:176664955G>A	ENST00000367662.3	+	7	3870	c.2706G>A	c.(2704-2706)gtG>gtA	p.V902V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	902					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCGGCGGGTGTGTGACTCCT	0.552																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2704-2706)gtG>gtA		pappalysin 2							67.0	71.0	69.0					1																	176664955		2059	4215	6274	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176664955G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2706G>A	1.37:g.176664955G>A							p.V902V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			7	3870	+			902					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2706G>A	CCDS41438.1																																																																																				0.552	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			28	60	0	0	0	1	0	28	60				
PPP2R2B	5521	broad.mit.edu	37	5	146070764	146070764	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:146070764T>A	ENST00000394413.3	-	4	944	c.374A>T	c.(373-375)aAg>aTg	p.K125M	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K191M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K183M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K114M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K131M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K128M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K125M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K125M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K125M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K114M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	125					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTGGCCTCTTATCACGCTC	0.512																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(373-375)aAg>aTg		protein phosphatase 2, regulatory subunit B, beta							100.0	106.0	104.0					5																	146070764		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146070764T>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.374A>T	5.37:g.146070764T>A	ENSP00000377935:p.Lys125Met					PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K183M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K125M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K131M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K114M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K125M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K114M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K125M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K191M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K128M	p.K125M			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	944	-			125					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.374A>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.794009	0.70452	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	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	5.85	5.85	0.93711	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	M	0.80028	2.48	0.80722	D	1	B;B;B;B;B;B	0.27166	0.084;0.047;0.021;0.17;0.1;0.084	B;B;B;B;B;B	0.30401	0.074;0.051;0.051;0.115;0.022;0.034	T	0.25882	-1.0119	10	0.33141	T	0.24	0.7276	16.2303	0.82332	0.0:0.0:0.0:1.0	.	183;131;114;191;128;125	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	M	125;114;191;125;125;125;114;128;131;183	ENSP00000377935:K125M;ENSP00000431320:K114M;ENSP00000377936:K191M;ENSP00000377933:K125M;ENSP00000349283:K125M;ENSP00000398779:K125M;ENSP00000377932:K114M;ENSP00000336591:K128M;ENSP00000421396:K131M;ENSP00000377931:K183M	ENSP00000336591:K128M	K	-	2	0	AC011357.1	146050957	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.671000	0.83941	2.233000	0.73108	0.533000	0.62120	AAG		0.512	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		33	44	0	0	0	1	0	33	44				
ZNF582	147948	broad.mit.edu	37	19	56895481	56895481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:56895481G>T	ENST00000301310.4	-	5	1463	c.1305C>A	c.(1303-1305)tgC>tgA	p.C435*	ZNF582_ENST00000586929.1_Nonsense_Mutation_p.C435*	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TCAATTGTGAGCAATGACTAA	0.393																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1303-1305)tgC>tgA		zinc finger protein 582							130.0	123.0	126.0					19																	56895481		2203	4300	6503	SO:0001587	stop_gained	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895481G>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1305C>A	19.37:g.56895481G>T	ENSP00000301310:p.Cys435*					ZNF582_ENST00000586929.1_Nonsense_Mutation_p.C435*	p.C435*	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1463	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	435					B4DQZ9|B7Z9R3|Q6PJT6	Nonsense_Mutation	SNP	ENST00000301310.4	37	c.1305C>A	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242121	0.58995	.	.	ENSG00000018869	ENST00000301310	.	.	.	4.53	-8.34	0.00988	.	0.669404	0.12405	N	0.471778	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	6.42	0.21738	0.6334:0.0977:0.1702:0.0987	.	.	.	.	X	435	.	ENSP00000301310:C435X	C	-	3	2	ZNF582	61587293	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.921000	0.00693	-1.953000	0.01026	-0.136000	0.14681	TGC		0.393	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		34	72	1	0	2.20474e-14	1	2.84621e-14	34	72				
MLLT6	4302	broad.mit.edu	37	17	36881840	36881840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:36881840G>T	ENST00000325718.7	+	20	3362	c.3271G>T	c.(3271-3273)Gaa>Taa	p.E1091*		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	1091					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGCCAACCAGGAAAAAGGCTA	0.607			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3271-3273)Gaa>Taa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							58.0	56.0	57.0					17																	36881840		2203	4300	6503	SO:0001587	stop_gained	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36881840G>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.3271G>T	17.37:g.36881840G>T	ENSP00000316426:p.Glu1091*						p.E1091*	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			20	3362	+	Breast(7;4.43e-21)		1091					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Nonsense_Mutation	SNP	ENST00000325718.7	37	c.3271G>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	42	9.716698	0.99247	.	.	ENSG00000108292	ENST00000325718	.	.	.	5.37	5.37	0.77165	.	0.093324	0.46758	D	0.000269	.	.	.	.	.	.	0.30590	N	0.761625	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4754	0.67541	0.0:0.0:1.0:0.0	.	.	.	.	X	1091	.	ENSP00000316426:E1091X	E	+	1	0	MLLT6	34135366	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.194000	0.42668	2.793000	0.96121	0.655000	0.94253	GAA		0.607	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		10	18	1	0	0.010729	1	0.0110428	10	18				
MCF2	4168	broad.mit.edu	37	X	138679741	138679741	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:138679741G>T	ENST00000370576.4	-	18	2142	c.1933C>A	c.(1933-1935)Cta>Ata	p.L645I	MCF2_ENST00000414978.1_Missense_Mutation_p.L705I|MCF2_ENST00000519895.1_Missense_Mutation_p.L721I|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.L645I|MCF2_ENST00000370578.4_Missense_Mutation_p.L790I|MCF2_ENST00000536274.1_Missense_Mutation_p.L606I|MCF2_ENST00000520602.1_Missense_Mutation_p.L705I|MCF2_ENST00000338585.6_Missense_Mutation_p.L661I	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	645	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TATTTTAATAGCTCCTGTAAT	0.343																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2113-2115)Cta>Ata		MCF.2 cell line derived transforming sequence							67.0	58.0	61.0					X																	138679741		2203	4298	6501	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138679741G>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1933C>A	X.37:g.138679741G>T	ENSP00000359608:p.Leu645Ile					MCF2_ENST00000370573.4_Missense_Mutation_p.L645I|MCF2_ENST00000370576.4_Missense_Mutation_p.L645I|MCF2_ENST00000536274.1_Missense_Mutation_p.L606I|MCF2_ENST00000370578.4_Missense_Mutation_p.L790I|MCF2_ENST00000519895.1_Missense_Mutation_p.L721I|MCF2_ENST00000338585.6_Missense_Mutation_p.L661I|MCF2_ENST00000414978.1_Missense_Mutation_p.L705I	p.L705I			P10911	MCF2_HUMAN			21	2398	-	Acute lymphoblastic leukemia(192;0.000127)		645			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2113C>A	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.67|17.67	3.447945|3.447945	0.63178|0.63178	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000437564|ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	.|T;T;T;T;T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.69|5.69	2.94|2.94	0.34122|0.34122	.|Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64136|0.64136	0.2571|0.2571	L|L	0.58669|0.58669	1.825|1.825	0.39009|0.39009	D|D	0.959506|0.959506	.|D;D;D;D;P;D;D;D	.|0.76494	.|0.97;0.999;0.963;0.958;0.949;0.97;0.999;0.958	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.975;1.0;0.958;0.993;0.988;0.966;0.999;0.993	T|T	0.66504|0.66504	-0.5907|-0.5907	5|10	.|0.62326	.|D	.|0.03	.|.	8.2859|8.2859	0.31928|0.31928	0.3779:0.0:0.6221:0.0|0.3779:0.0:0.6221:0.0	.|.	.|721;790;606;645;645;790;661;645	.|E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.|.;.;.;.;.;.;.;MCF2_HUMAN	D|I	148|705;645;606;790;705;248;721;645;661	.|ENSP00000427745:L705I;ENSP00000359608:L645I;ENSP00000438155:L606I;ENSP00000359610:L790I;ENSP00000397055:L705I;ENSP00000405848:L248I;ENSP00000430276:L721I;ENSP00000359605:L645I;ENSP00000342204:L661I	.|ENSP00000342204:L661I	A|L	-|-	2|1	0|2	MCF2|MCF2	138507407|138507407	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.979000|0.979000	0.70002|0.70002	1.504000|1.504000	0.35726|0.35726	1.176000|1.176000	0.42840|0.42840	-0.191000|-0.191000	0.12829|0.12829	GCT|CTA		0.343	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		21	38	1	0	2.08468e-23	1	3.04063e-23	21	38				
TOX2	84969	broad.mit.edu	37	20	42679949	42679949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:42679949C>T	ENST00000358131.5	+	4	650	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q97*|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q97*|TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q139*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	148					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTCTTAGATCCAGGAGATGGT	0.612																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(442-444)Cag>Tag		TOX high mobility group box family member 2							53.0	55.0	54.0					20																	42679949		2203	4300	6503	SO:0001587	stop_gained	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42679949C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.442C>T	20.37:g.42679949C>T	ENSP00000350849:p.Gln148*					TOX2_ENST00000435864.2_Nonsense_Mutation_p.Q17*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q97*|TOX2_ENST00000341197.3_Nonsense_Mutation_p.Q139*|TOX2_ENST00000423191.1_Nonsense_Mutation_p.Q97*	p.Q148*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	650	+		Myeloproliferative disorder(115;0.00452)	148					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Nonsense_Mutation	SNP	ENST00000358131.5	37	c.442C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771252	0.69992	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.58	5.58	0.84498	.	0.148899	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.5722	0.91140	0.0:1.0:0.0:0.0	.	.	.	.	X	139;97;97;97;148;17	.	ENSP00000344724:Q139X	Q	+	1	0	TOX2	42113363	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.125000	0.77193	2.604000	0.88044	0.655000	0.94253	CAG		0.612	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			21	65	0	0	0	1	0	21	65				
ABCA8	10351	broad.mit.edu	37	17	66928653	66928653	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:66928653G>A	ENST00000269080.2	-	6	710	c.573C>T	c.(571-573)atC>atT	p.I191I	ABCA8_ENST00000430352.2_Silent_p.I191I|ABCA8_ENST00000586539.1_Silent_p.I191I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	191					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GATTTGTTGTGATCTGAAGAA	0.348																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(571-573)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 8							75.0	73.0	74.0					17																	66928653		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928653G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.573C>T	17.37:g.66928653G>A						ABCA8_ENST00000430352.2_Silent_p.I191I|ABCA8_ENST00000586539.1_Silent_p.I191I	p.I191I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			6	710	-	Breast(10;4.56e-13)		191					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.573C>T	CCDS11680.1																																																																																				0.348	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		50	36	0	0	0	1	0	50	36				
LHX9	56956	broad.mit.edu	37	1	197890558	197890558	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:197890558C>G	ENST00000367387.4	+	3	927	c.502C>G	c.(502-504)Ctg>Gtg	p.L168V	LHX9_ENST00000337020.2_Missense_Mutation_p.L168V|LHX9_ENST00000561173.1_Missense_Mutation_p.L174V|LHX9_ENST00000367390.3_Missense_Mutation_p.L159V|LHX9_ENST00000367391.1_Missense_Mutation_p.L159V	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	168	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CAACAAGACTCTGACCACGGG	0.602																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(475-477)Ctg>Gtg		LIM homeobox 9							68.0	67.0	67.0					1																	197890558		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890558C>G	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.502C>G	1.37:g.197890558C>G	ENSP00000356357:p.Leu168Val					LHX9_ENST00000367387.4_Missense_Mutation_p.L168V|LHX9_ENST00000337020.2_Missense_Mutation_p.L168V|LHX9_ENST00000561173.1_Missense_Mutation_p.L174V|LHX9_ENST00000367391.1_Missense_Mutation_p.L159V	p.L159V	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			4	502	+			168			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.475C>G	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473766	0.84640	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	6.17	5.26	0.73747	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.96842	0.8969	M	0.93638	3.44	0.80722	D	1	P;D;P	0.57257	0.925;0.979;0.907	P;P;P	0.60541	0.706;0.876;0.582	D	0.97205	0.9867	10	0.87932	D	0	.	10.819	0.46593	0.0:0.8558:0.0:0.1442	.	168;159;159	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	V	159;159;168;168	ENSP00000356361:L159V;ENSP00000356360:L159V;ENSP00000337969:L168V;ENSP00000356357:L168V	ENSP00000337969:L168V	L	+	1	2	LHX9	196157181	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	3.038000	0.49783	1.598000	0.50083	0.655000	0.94253	CTG		0.602	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		25	62	0	0	0	1	0	25	62				
FBN2	2201	broad.mit.edu	37	5	127597489	127597489	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:127597489T>C	ENST00000508053.1	-	70	9277	c.8303A>G	c.(8302-8304)aAc>aGc	p.N2768S	FBN2_ENST00000262464.4_Missense_Mutation_p.N2768S			P35556	FBN2_HUMAN	fibrillin 2	2768					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGAATAGCCGTTGATTTTGCA	0.453																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(8302-8304)aAc>aGc		fibrillin 2							257.0	222.0	234.0					5																	127597489		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127597489T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8303A>G	5.37:g.127597489T>C	ENSP00000424571:p.Asn2768Ser					FBN2_ENST00000262464.4_Missense_Mutation_p.N2768S	p.N2768S			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	70	9277	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2768					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8303A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756020	0.69648	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.85339	-1.97;-1.97	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	D	0.92004	0.7467	M	0.78456	2.415	0.53005	D	0.999962	D	0.69078	0.997	D	0.75020	0.985	D	0.92782	0.6241	10	0.66056	D	0.02	.	15.7462	0.77944	0.0:0.0:0.0:1.0	.	2768	P35556	FBN2_HUMAN	S	2768	ENSP00000262464:N2768S;ENSP00000424571:N2768S	ENSP00000262464:N2768S	N	-	2	0	FBN2	127625388	1.000000	0.71417	0.935000	0.37517	0.136000	0.21042	7.825000	0.86693	2.307000	0.77673	0.528000	0.53228	AAC		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		38	90	0	0	0	1	0	38	90				
HIST1H1B	3009	broad.mit.edu	37	6	27834798	27834798	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:27834798C>A	ENST00000331442.3	-	1	561	c.510G>T	c.(508-510)gtG>gtT	p.V170V		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	170					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GGCTCTTCGCCACCTTTTTGA	0.592																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(508-510)gtG>gtT		histone cluster 1, H1b							72.0	78.0	75.0					6																	27834798		2203	4300	6503	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834798C>A	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.510G>T	6.37:g.27834798C>A							p.V170V	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	561	-			170					Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.510G>T	CCDS4635.1																																																																																				0.592	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		61	127	1	0	5.47352e-35	1	8.42571e-35	61	127				
ZIC1	7545	broad.mit.edu	37	3	147128358	147128358	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:147128358C>T	ENST00000282928.4	+	1	1188	c.459C>T	c.(457-459)caC>caT	p.H153H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	153					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTGCCGGCCACGCGTCGCCTA	0.711																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(457-459)caC>caT		Zic family member 1							15.0	19.0	18.0					3																	147128358		2198	4294	6492	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128358C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.459C>T	3.37:g.147128358C>T							p.H153H	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1188	+			153					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.459C>T	CCDS3136.1																																																																																				0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		7	26	0	0	0	1	0	7	26				
RTP1	132112	broad.mit.edu	37	3	186917551	186917551	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:186917551G>A	ENST00000312295.4	+	2	515	c.485G>A	c.(484-486)cGc>cAc	p.R162H	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	162					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACCAGCCTGCGCGAGCAGTGC	0.677																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(484-486)cGc>cAc		receptor (chemosensory) transporter protein 1							29.0	28.0	28.0					3																	186917551		2203	4299	6502	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917551G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.485G>A	3.37:g.186917551G>A	ENSP00000311712:p.Arg162His					RP11-208N14.4_ENST00000356133.3_RNA	p.R162H	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	515	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		162						Missense_Mutation	SNP	ENST00000312295.4	37	c.485G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723986	0.89298	.	.	ENSG00000175077	ENST00000312295	T	0.23147	1.92	5.7	5.7	0.88788	.	0.277274	0.40144	N	0.001165	T	0.43010	0.1228	L	0.55481	1.735	0.32853	D	0.506968	D	0.89917	1.0	D	0.68765	0.96	T	0.41324	-0.9515	10	0.17369	T	0.5	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	162	P59025	RTP1_HUMAN	H	162	ENSP00000311712:R162H	ENSP00000311712:R162H	R	+	2	0	RTP1	188400245	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	2.405000	0.44548	2.711000	0.92665	0.561000	0.74099	CGC		0.677	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		20	42	0	0	0	1	0	20	42				
MAGEB10	139422	broad.mit.edu	37	X	27840035	27840035	+	Silent	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:27840035G>C	ENST00000356790.2	+	3	857	c.612G>C	c.(610-612)ctG>ctC	p.L204L		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	204	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CTGGCCTGCTGATGACTGTCC	0.463																																						ENST00000356790.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(610-612)ctG>ctC		melanoma antigen family B, 10							77.0	62.0	67.0					X																	27840035		2202	4299	6501	SO:0001819	synonymous_variant	139422							g.chrX:27840035G>C		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.612G>C	X.37:g.27840035G>C							p.L204L	NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN			3	857	+			204			MAGE.		Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	ENST00000356790.2	37	c.612G>C	CCDS35221.1																																																																																				0.463	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		19	40	0	0	0	1	0	19	40				
ENPP6	133121	broad.mit.edu	37	4	185018518	185018518	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:185018518G>T	ENST00000296741.2	-	7	1138	c.997C>A	c.(997-999)Cga>Aga	p.R333R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	333					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGCATCTCTCGATTCTGAAAC	0.612																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(997-999)Cga>Aga		ectonucleotide pyrophosphatase/phosphodiesterase 6							91.0	80.0	83.0					4																	185018518		2203	4300	6503	SO:0001819	synonymous_variant	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185018518G>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.997C>A	4.37:g.185018518G>T							p.R333R	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	7	1138	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	333					Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	c.997C>A	CCDS3834.1																																																																																				0.612	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		16	18	1	0	1.15088e-07	1	1.2847e-07	16	18				
TMEM200A	114801	broad.mit.edu	37	6	130762678	130762678	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:130762678C>G	ENST00000296978.3	+	3	1982	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q371E|TMEM200A_ENST00000392429.1_Missense_Mutation_p.Q371E	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	371						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGGGGCTGGACAGCTCTTGTC	0.537																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1111-1113)Cag>Gag		transmembrane protein 200A							74.0	75.0	75.0					6																	130762678		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762678C>G	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1111C>G	6.37:g.130762678C>G	ENSP00000296978:p.Gln371Glu					TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q371E|TMEM200A_ENST00000296978.3_Missense_Mutation_p.Q371E	p.Q371E	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3489	+			371					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1111C>G	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093801	0.20471	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	5.16	0.70880	.	0.332353	0.32624	N	0.005848	T	0.20455	0.0492	N	0.17082	0.46	0.32708	N	0.511913	B	0.02656	0.0	B	0.01281	0.0	T	0.05131	-1.0904	9	0.39692	T	0.17	-3.5559	11.4606	0.50208	0.1684:0.718:0.1137:0.0	.	371	Q86VY9	T200A_HUMAN	E	371	.	ENSP00000296978:Q371E	Q	+	1	0	TMEM200A	130804371	1.000000	0.71417	0.990000	0.47175	0.678000	0.39670	3.467000	0.53078	2.885000	0.99019	0.655000	0.94253	CAG		0.537	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		22	53	0	0	0	1	0	22	53				
RAMP3	10268	broad.mit.edu	37	7	45222991	45222991	+	Missense_Mutation	SNP	C	C	T	rs370868982		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:45222991C>T	ENST00000242249.4	+	3	465	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	RAMP3_ENST00000481345.1_Missense_Mutation_p.R143C|RAMP3_ENST00000496212.1_Missense_Mutation_p.R143C	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	143					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCGCAGCAAACGCACCGACAC	0.627																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(427-429)Cgc>Tgc		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)	C	CYS/ARG	0,4406		0,0,2203	105.0	97.0	100.0		427	2.5	0.0	7		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAMP3	NM_005856.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	143/149	45222991	1,13005	2203	4300	6503	SO:0001583	missense	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222991C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.427C>T	7.37:g.45222991C>T	ENSP00000242249:p.Arg143Cys					RAMP3_ENST00000481345.1_Missense_Mutation_p.R143C|RAMP3_ENST00000496212.1_Missense_Mutation_p.R143C	p.R143C	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	465	+			143					Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	c.427C>T	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.130979	0.56828	0.0	1.16E-4	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.48836	0.8;0.8;0.8	4.37	2.49	0.30216	.	0.296958	0.33477	N	0.004879	T	0.61400	0.2344	M	0.69185	2.1	0.47659	D	0.999486	D	0.89917	1.0	D	0.69824	0.966	T	0.60146	-0.7320	10	0.87932	D	0	-16.0879	8.7399	0.34552	0.1712:0.6635:0.1653:0.0	.	143	O60896	RAMP3_HUMAN	C	143	ENSP00000242249:R143C;ENSP00000419012:R143C;ENSP00000418460:R143C	ENSP00000242249:R143C	R	+	1	0	RAMP3	45189516	0.989000	0.36119	0.003000	0.11579	0.036000	0.12997	1.050000	0.30404	0.262000	0.21774	-0.165000	0.13383	CGC		0.627	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		59	48	0	0	0	1	0	59	48				
OLFML2B	25903	broad.mit.edu	37	1	161953981	161953981	+	Silent	SNP	G	G	T	rs142854687	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:161953981G>T	ENST00000294794.3	-	8	2160	c.1737C>A	c.(1735-1737)cgC>cgA	p.R579R	OLFML2B_ENST00000367938.1_Silent_p.R62R|OLFML2B_ENST00000367940.2_Silent_p.R580R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	579	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGTGAAGGCGCGATTGTAGT	0.607																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1735-1737)cgC>cgA		olfactomedin-like 2B							98.0	79.0	85.0					1																	161953981		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161953981G>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1737C>A	1.37:g.161953981G>T						OLFML2B_ENST00000367938.1_Silent_p.R62R|OLFML2B_ENST00000367940.2_Silent_p.R580R	p.R579R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2160	-	all_hematologic(112;0.156)		579			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1737C>A	CCDS1236.1																																																																																				0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		31	61	1	0	1.75199e-13	1	2.19726e-13	31	61				
GPLD1	2822	broad.mit.edu	37	6	24467009	24467009	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:24467009C>A	ENST00000230036.1	-	10	830	c.720G>T	c.(718-720)gtG>gtT	p.V240V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	240					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGAATTGTTCCACCAAAAACG	0.363																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(718-720)gtG>gtT		glycosylphosphatidylinositol specific phospholipase D1							60.0	58.0	59.0					6																	24467009		2203	4300	6503	SO:0001819	synonymous_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24467009C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.720G>T	6.37:g.24467009C>A						GPLD1_ENST00000474784.1_5'UTR	p.V240V	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			10	830	-			240					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	c.720G>T	CCDS4553.1																																																																																				0.363	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		16	37	1	0	5.3912e-06	1	5.86919e-06	16	37				
IGKV1D-42	28892	broad.mit.edu	37	2	90229360	90229360	+	RNA	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:90229360G>T	ENST00000390278.2	+	0	200									immunoglobulin kappa variable 1D-42 (non-functional)																		GGTATCTGCAGAAACCAGGGA	0.493																																						ENST00000390278.2																			0																				75.0	79.0	78.0					2																	90229360		1881	4120	6001			28892							g.chr2:90229360G>T	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229360G>T														0	200	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.493	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		26	67	1	0	1.75199e-13	1	2.19726e-13	26	67				
CHST13	166012	broad.mit.edu	37	3	126260799	126260799	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:126260799C>G	ENST00000319340.2	+	3	454	c.404C>G	c.(403-405)cCg>cGg	p.P135R		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	135					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGCGGCGACCCGCGCGCCATC	0.721																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(403-405)cCg>cGg		carbohydrate (chondroitin 4) sulfotransferase 13							14.0	13.0	13.0					3																	126260799		2178	4235	6413	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260799C>G	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.404C>G	3.37:g.126260799C>G	ENSP00000317404:p.Pro135Arg						p.P135R	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	454	+			135					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.404C>G	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810535	0.70797	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.72725	-0.68	4.73	4.73	0.59995	.	0.000000	0.85682	U	0.000000	D	0.87354	0.6156	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90631	0.4567	10	0.87932	D	0	-40.2554	15.1856	0.72999	0.0:1.0:0.0:0.0	.	135	Q8NET6	CHSTD_HUMAN	R	135	ENSP00000317404:P135R	ENSP00000317404:P135R	P	+	2	0	CHST13	127743489	1.000000	0.71417	0.941000	0.38009	0.514000	0.34195	7.237000	0.78164	2.169000	0.68431	0.491000	0.48974	CCG		0.721	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		11	25	0	0	0	1	0	11	25				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	77	1	0	4.096e-09	1	4.75316e-09	4	77				
ZNF804A	91752	broad.mit.edu	37	2	185802541	185802541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:185802541C>A	ENST00000302277.6	+	4	3012	c.2418C>A	c.(2416-2418)tgC>tgA	p.C806*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	806							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCTCCCTGCAAGCCTAAAA	0.383																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2416-2418)tgC>tgA		zinc finger protein 804A							46.0	52.0	50.0					2																	185802541		2193	4295	6488	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185802541C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2418C>A	2.37:g.185802541C>A	ENSP00000303252:p.Cys806*						p.C806*	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3012	+			806					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2418C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	38	6.747849	0.97809	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.81	-0.893	0.10567	.	0.418178	0.23065	N	0.052327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	0.0639	7.5931	0.28033	0.0:0.4232:0.2406:0.3361	.	.	.	.	X	806	.	ENSP00000303252:C806X	C	+	3	2	ZNF804A	185510786	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-0.502000	0.06390	-0.700000	0.05070	-1.062000	0.02293	TGC		0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		31	46	1	0	3.90053e-15	1	5.06014e-15	31	46				
FLNC	2318	broad.mit.edu	37	7	128488974	128488974	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:128488974C>T	ENST00000325888.8	+	28	5126	c.4865C>T	c.(4864-4866)cCc>cTc	p.P1622L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1622L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1622					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATGAGATCCCCTACTCGCCC	0.622																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4864-4866)cCc>cTc		filamin C, gamma							98.0	116.0	110.0					7																	128488974		2140	4233	6373	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488974C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4865C>T	7.37:g.128488974C>T	ENSP00000327145:p.Pro1622Leu					FLNC_ENST00000346177.6_Missense_Mutation_p.P1622L	p.P1622L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			28	5126	+			1622					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4865C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699650	0.88830	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85629	-2.01;-2.01	5.46	5.46	0.80206	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93426	0.7903	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.94094	0.7356	10	0.87932	D	0	.	19.2998	0.94140	0.0:1.0:0.0:0.0	.	1622;1622	Q14315-2;Q14315	.;FLNC_HUMAN	L	1622	ENSP00000327145:P1622L;ENSP00000344002:P1622L	ENSP00000327145:P1622L	P	+	2	0	FLNC	128276210	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.818000	0.86416	2.549000	0.85964	0.655000	0.94253	CCC		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			33	70	0	0	0	1	0	33	70				
SEPT6	23157	broad.mit.edu	37	X	118771044	118771044	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:118771044C>G	ENST00000343984.5	-	7	1166	c.902G>C	c.(901-903)tGt>tCt	p.C301S	SEPT6_ENST00000354228.4_Missense_Mutation_p.C301S|SEPT6_ENST00000394617.2_Missense_Mutation_p.C331S|SEPT6_ENST00000489216.1_Missense_Mutation_p.C301S|SEPT6_ENST00000360156.7_Missense_Mutation_p.C301S|SEPT6_ENST00000354416.3_Missense_Mutation_p.C301S|SEPT6_ENST00000394616.4_Missense_Mutation_p.C243S|SEPT6_ENST00000394610.1_Missense_Mutation_p.C301S	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	301	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTCCAGCTTACAGCGGCGATA	0.612			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(901-903)tGt>tCt		septin 6							124.0	91.0	103.0					X																	118771044		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118771044C>G	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.902G>C	X.37:g.118771044C>G	ENSP00000341524:p.Cys301Ser					SEPT6_ENST00000354416.3_Missense_Mutation_p.C301S|SEPT6_ENST00000360156.7_Missense_Mutation_p.C301S|SEPT6_ENST00000343984.5_Missense_Mutation_p.C301S|SEPT6_ENST00000354228.4_Missense_Mutation_p.C301S|SEPT6_ENST00000489216.1_Missense_Mutation_p.C301S|SEPT6_ENST00000394616.4_Missense_Mutation_p.C243S|SEPT6_ENST00000394617.2_Missense_Mutation_p.C331S	p.C301S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			7	1166	-			301					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.902G>C	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751297	0.49257	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84270	0.5435	L	0.27053	0.805	0.80722	D	1	D;B;D;B	0.69078	0.997;0.11;0.996;0.022	D;B;D;B	0.87578	0.996;0.14;0.998;0.021	T	0.79574	-0.1747	10	0.09338	T	0.73	.	16.9188	0.86158	0.0:1.0:0.0:0.0	.	331;243;301;301	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	S	301;301;301;301;301;301;243;331	ENSP00000353278:C301S;ENSP00000346169:C301S;ENSP00000418715:C301S;ENSP00000346397:C301S;ENSP00000378108:C301S;ENSP00000341524:C301S;ENSP00000378114:C243S;ENSP00000378115:C331S	ENSP00000341524:C301S	C	-	2	0	SEPT6	118655072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.200000	0.70718	0.594000	0.82650	TGT		0.612	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		23	64	0	0	0	1	0	23	64				
OR10A7	121364	broad.mit.edu	37	12	55615193	55615193	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:55615193C>A	ENST00000326258.1	+	1	385	c.385C>A	c.(385-387)Cct>Act	p.P129T		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CATCTGTAACCCTCTCCATTA	0.473																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(385-387)Cct>Act		olfactory receptor, family 10, subfamily A, member 7							143.0	127.0	133.0					12																	55615193		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615193C>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.385C>A	12.37:g.55615193C>A	ENSP00000326718:p.Pro129Thr						p.P129T	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	385	+			129					Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.385C>A	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	19.15	3.772170	0.69992	.	.	ENSG00000179919	ENST00000326258	T	0.01887	4.58	3.05	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001509	T	0.24624	0.0597	H	0.99273	4.495	0.49389	D	0.999786	D	0.89917	1.0	D	0.83275	0.996	T	0.55692	-0.8101	10	0.87932	D	0	.	14.2018	0.65710	0.0:1.0:0.0:0.0	.	129	Q8NGE5	O10A7_HUMAN	T	129	ENSP00000326718:P129T	ENSP00000326718:P129T	P	+	1	0	OR10A7	53901460	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	6.901000	0.75693	1.729000	0.51567	0.637000	0.83480	CCT		0.473	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			37	63	1	0	6.97489e-18	1	9.39475e-18	37	63				
MED7	9443	broad.mit.edu	37	5	156566212	156566212	+	Silent	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:156566212T>C	ENST00000286317.5	-	2	612	c.231A>G	c.(229-231)gaA>gaG	p.E77E	MED7_ENST00000420343.1_Silent_p.E77E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	77					gene expression (GO:0010467)|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)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTTTCTCAGTTCTTTCTTGT	0.378																																						ENST00000286317.5																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(229-231)gaA>gaG		mediator complex subunit 7							60.0	62.0	62.0					5																	156566212		2203	4300	6503	SO:0001819	synonymous_variant	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566212T>C	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.231A>G	5.37:g.156566212T>C						MED7_ENST00000420343.1_Silent_p.E77E	p.E77E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	612	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	77						Silent	SNP	ENST00000286317.5	37	c.231A>G	CCDS4334.1																																																																																				0.378	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		34	74	0	0	0	1	0	34	74				
ZSCAN4	201516	broad.mit.edu	37	19	58189861	58189861	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:58189861C>T	ENST00000318203.5	+	5	1587	c.890C>T	c.(889-891)aCa>aTa	p.T297I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	297					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAATTCCACATGTGAGGTA	0.478																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(889-891)aCa>aTa		zinc finger and SCAN domain containing 4							105.0	97.0	100.0					19																	58189861		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189861C>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.890C>T	19.37:g.58189861C>T	ENSP00000321963:p.Thr297Ile						p.T297I	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1587	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	297					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.890C>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677160	0.29783	.	.	ENSG00000180532	ENST00000318203	T	0.08282	3.11	3.49	0.16	0.14972	.	1.056190	0.07440	N	0.897210	T	0.05914	0.0154	L	0.29908	0.895	0.09310	N	1	B	0.29270	0.24	B	0.27608	0.081	T	0.42699	-0.9436	10	0.37606	T	0.19	-0.1815	3.3789	0.07247	0.1737:0.5572:0.1686:0.1005	.	297	Q8NAM6	ZSCA4_HUMAN	I	297	ENSP00000321963:T297I	ENSP00000321963:T297I	T	+	2	0	ZSCAN4	62881673	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.210000	0.17455	0.131000	0.18576	0.655000	0.94253	ACA		0.478	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		25	59	0	0	0	1	0	25	59				
NCAPD2	9918	broad.mit.edu	37	12	6638760	6638760	+	Splice_Site	SNP	G	G	T	rs111952025		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:6638760G>T	ENST00000315579.5	+	28	4452		c.e28+1		NCAPD2_ENST00000545962.1_Splice_Site|RP5-940J5.3_ENST00000537921.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCACATCCCGGTATGCTGCCC	0.607																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.e28+1		non-SMC condensin I complex, subunit D2							79.0	70.0	73.0					12																	6638760		2203	4300	6503	SO:0001630	splice_region_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6638760G>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3653+1G>T	12.37:g.6638760G>T						NCAPD2_ENST00000545962.1_Splice_Site		NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			28	4452	+								D3DUR4|Q8N6U3	Splice_Site	SNP	ENST00000315579.5	37		CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905523	0.52333	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0814	0.93185	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPD2	6509021	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	9.023000	0.93683	2.729000	0.93468	0.563000	0.77884	.		0.607	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	Intron	21	67	1	0	1.9806e-07	1	2.20624e-07	21	67				
DNAJC11	55735	broad.mit.edu	37	1	6705119	6705119	+	Missense_Mutation	SNP	C	C	A	rs372201952		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:6705119C>A	ENST00000377577.5	-	9	1085	c.962G>T	c.(961-963)cGt>cTt	p.R321L	DNAJC11_ENST00000542246.1_Missense_Mutation_p.R283L|DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R231L|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R321L	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	321						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTTTCACACGAGTCTGATC	0.522																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(961-963)cGt>cTt		DnaJ (Hsp40) homolog, subfamily C, member 11							315.0	291.0	299.0					1																	6705119		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6705119C>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.962G>T	1.37:g.6705119C>A	ENSP00000366800:p.Arg321Leu					DNAJC11_ENST00000294401.7_Missense_Mutation_p.R321L|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R231L|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R283L	p.R321L	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	9	1085	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	321					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.962G>T	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582624	0.46006	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.25579	2.39;2.42;2.14;1.79	5.59	4.69	0.59074	.	0.054796	0.64402	D	0.000001	T	0.24547	0.0595	L	0.52011	1.625	0.42015	D	0.990958	P;B;B	0.44877	0.845;0.049;0.11	B;B;B	0.37692	0.256;0.061;0.021	T	0.06144	-1.0843	10	0.66056	D	0.02	-12.7018	13.5439	0.61690	0.0:0.9253:0.0:0.0747	.	231;321;321	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	L	321;321;283;231	ENSP00000366800:R321L;ENSP00000294401:R321L;ENSP00000444020:R283L;ENSP00000366796:R231L	ENSP00000294401:R321L	R	-	2	0	DNAJC11	6627706	1.000000	0.71417	0.030000	0.17652	0.788000	0.44548	5.542000	0.67218	1.368000	0.46115	-0.229000	0.12294	CGT		0.522	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		68	166	1	0	4.8811e-34	1	7.4702e-34	68	166				
H2BFM	286436	broad.mit.edu	37	X	103294763	103294763	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:103294763G>T	ENST00000355016.3	+	1	248	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C	H2BFM_ENST00000243297.5_Missense_Mutation_p.G177C	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	74						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						GGTTCACCAGGGCCTCAGCCT	0.632																																						ENST00000243297.5																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(529-531)Ggc>Tgc		H2B histone family, member M							31.0	36.0	34.0					X																	103294763		692	1591	2283	SO:0001583	missense	286436							g.chrX:103294763G>T	AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.220G>T	X.37:g.103294763G>T	ENSP00000347119:p.Gly74Cys					H2BFM_ENST00000355016.3_Missense_Mutation_p.G74C	p.G177C							3	529	+								A6NP82	Missense_Mutation	SNP	ENST00000355016.3	37	c.529G>T	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.574940	0.45902	.	.	ENSG00000101812	ENST00000243297;ENST00000355016	T;T	0.25414	1.8;1.8	2.54	1.65	0.23941	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.43787	0.1263	M	0.68593	2.085	0.26953	N	0.965996	D	0.89917	1.0	D	0.74348	0.983	T	0.18808	-1.0325	9	0.87932	D	0	.	7.0734	0.25191	0.1527:0.0:0.8473:0.0	.	177	P0C1H6	H2BFM_HUMAN	C	177;74	ENSP00000243297:G177C;ENSP00000347119:G74C	ENSP00000243297:G177C	G	+	1	0	H2BFM	103181419	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	6.087000	0.71362	0.328000	0.23435	-0.385000	0.06624	GGC		0.632	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048		5	6	1	0	0.014758	1	0.0151305	5	6				
ESX1	80712	broad.mit.edu	37	X	103498900	103498900	+	Silent	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:103498900C>A	ENST00000372588.4	-	2	524	c.441G>T	c.(439-441)acG>acT	p.T147T		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	147					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCTGAAACTGCGTGAACGCGG	0.642																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(439-441)acG>acT		ESX homeobox 1							43.0	43.0	43.0					X																	103498900		2203	4299	6502	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498900C>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.441G>T	X.37:g.103498900C>A							p.T147T	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			2	524	-			147					B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.441G>T	CCDS14516.1																																																																																				0.642	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		39	93	1	0	3.09479e-21	1	4.38082e-21	39	93				
MUC16	94025	broad.mit.edu	37	19	8993474	8993474	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:8993474C>A	ENST00000397910.4	-	66	41818	c.41615G>T	c.(41614-41616)gGg>gTg	p.G13872V	MUC16_ENST00000380951.5_Missense_Mutation_p.G513V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13875	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGTCCAGCCCAGGGCCTGT	0.597																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41614-41616)gGg>gTg		mucin 16, cell surface associated							91.0	88.0	89.0					19																	8993474		2000	4156	6156	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993474C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41615G>T	19.37:g.8993474C>A	ENSP00000381008:p.Gly13872Val					MUC16_ENST00000380951.5_Missense_Mutation_p.G513V	p.G13872V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			66	41818	-			13875	Missing (in Ref. 3; AAK74120).		SEA 12.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41615G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.66|12.66	2.004019|2.004019	0.35320|0.35320	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.25250	.|1.81;1.81	3.61|3.61	-1.53|-1.53	0.08611|0.08611	.|SEA (1);	0.797132|0.797132	0.10231|0.10231	U|U	0.699622|0.699622	T|T	0.37156|0.37156	0.0993|0.0993	L|L	0.61387|0.61387	1.9|1.9	.|.	.|.	.|.	.|P;D	.|0.69078	.|0.922;0.997	.|B;D	.|0.83275	.|0.441;0.996	T|T	0.40001|0.40001	-0.9586|-0.9586	6|9	0.49607|0.42905	T|T	0.09|0.14	.|.	0.6223|0.6223	0.00780|0.00780	0.1968:0.3746:0.1925:0.236|0.1968:0.3746:0.1925:0.236	.|.	.|21517;13872	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	C|V	712|13872;513	.|ENSP00000381008:G13872V;ENSP00000370338:G513V	ENSP00000370334:G690C|ENSP00000370338:G513V	G|G	-|-	1|2	0|0	MUC16|MUC16	8854474|8854474	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.525000|0.525000	0.34531|0.34531	-2.315000|-2.315000	0.01124|0.01124	0.031000|0.031000	0.15407|0.15407	0.557000|0.557000	0.71058|0.71058	GGC|GGG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		42	44	1	0	2.66277e-13	1	3.33161e-13	42	44				
PXDNL	137902	broad.mit.edu	37	8	52384784	52384784	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:52384784C>G	ENST00000356297.4	-	8	875	c.775G>C	c.(775-777)Gga>Cga	p.G259R	PXDNL_ENST00000543296.1_Missense_Mutation_p.G259R	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	259	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTGGGGTTTCCTTCCGCCCGG	0.448																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(775-777)Gga>Cga		peroxidasin homolog (Drosophila)-like							180.0	174.0	176.0					8																	52384784		1890	4106	5996	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384784C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.775G>C	8.37:g.52384784C>G	ENSP00000348645:p.Gly259Arg					PXDNL_ENST00000543296.1_Missense_Mutation_p.G259R	p.G259R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			8	875	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	259			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.775G>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124396	0.37533	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.79940	-1.32;-1.32	3.75	2.86	0.33363	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92074	0.7488	H	0.97214	3.96	0.37656	D	0.922599	D	0.89917	1.0	D	0.87578	0.998	D	0.92398	0.5927	9	0.87932	D	0	.	8.9298	0.35663	0.0:0.8851:0.0:0.1149	.	259	A1KZ92	PXDNL_HUMAN	R	259	ENSP00000348645:G259R;ENSP00000444865:G259R	ENSP00000348645:G259R	G	-	1	0	PXDNL	52547337	1.000000	0.71417	0.046000	0.18839	0.041000	0.13682	4.671000	0.61590	0.585000	0.29608	0.586000	0.80456	GGA		0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		35	58	0	0	0	1	0	35	58				
POTEH	23784	broad.mit.edu	37	22	16267025	16267025	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:16267025G>T	ENST00000343518.6	-	9	1475	c.1424C>A	c.(1423-1425)aCt>aAt	p.T475N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	475										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATTGTCAGCAGTGGCACCGTT	0.408																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1423-1425)aCt>aAt		POTE ankyrin domain family, member H							506.0	414.0	442.0					22																	16267025		692	1591	2283	SO:0001583	missense	23784							g.chr22:16267025G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1424C>A	22.37:g.16267025G>T	ENSP00000340610:p.Thr475Asn						p.T475N	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			9	1475	-			475					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1424C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646520	0.14451	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.25912	1.77	1.4	1.4	0.22301	.	.	.	.	.	T	0.13756	0.0333	N	0.24115	0.695	0.09310	N	1	B;B	0.32781	0.384;0.1	B;B	0.30646	0.118;0.036	T	0.22661	-1.0210	9	0.20046	T	0.44	.	6.2468	0.20823	0.0:0.0:1.0:0.0	.	475;438	Q6S545;A6NKF6	POTEH_HUMAN;.	N	438;475	ENSP00000340610:T475N	ENSP00000340610:T475N	T	-	2	0	POTEH	14647025	0.000000	0.05858	0.159000	0.22649	0.082000	0.17680	-0.307000	0.08167	1.081000	0.41110	0.184000	0.17185	ACT		0.408	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		46	489	1	0	2.84144e-21	1	4.03301e-21	46	489				
ANK2	287	broad.mit.edu	37	4	114280093	114280093	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:114280093C>G	ENST00000357077.4	+	38	10372	c.10319C>G	c.(10318-10320)tCc>tGc	p.S3440C	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3407C|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3440					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATACTTACATCCCGATTGCCA	0.478																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10318-10320)tCc>tGc		ankyrin 2, neuronal							68.0	77.0	74.0					4																	114280093		2202	4300	6502	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280093C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10319C>G	4.37:g.114280093C>G	ENSP00000349588:p.Ser3440Cys					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3407C	p.S3440C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10372	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3407					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10319C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864299	0.71949	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.97959	-1.06;-1.07;-4.63	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000049	D	0.98635	0.9543	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99143	1.0856	10	0.52906	T	0.07	.	19.7692	0.96356	0.0:1.0:0.0:0.0	.	3407;3440	Q01484;Q01484-4	ANK2_HUMAN;.	C	3440;3407;450	ENSP00000349588:S3440C;ENSP00000264366:S3407C;ENSP00000422498:S450C	ENSP00000264366:S3407C	S	+	2	0	ANK2	114499542	1.000000	0.71417	0.947000	0.38551	0.953000	0.61014	7.440000	0.80464	2.658000	0.90341	0.650000	0.86243	TCC		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		18	45	0	0	0	1	0	18	45				
NR3C2	4306	broad.mit.edu	37	4	149115939	149115939	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:149115939A>C	ENST00000358102.3	-	4	2334	c.1972T>G	c.(1972-1974)Tgc>Ggc	p.C658G	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.C662G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Missense_Mutation_p.C658G|NR3C2_ENST00000355292.3_Missense_Mutation_p.C662G|NR3C2_ENST00000344721.4_Missense_Mutation_p.C658G	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	658					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGAAGTCTGCAAGCAGGACAA	0.308																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1984-1986)Tgc>Ggc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						93.0	93.0	93.0					4																	149115939		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149115939A>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1972T>G	4.37:g.149115939A>C	ENSP00000350815:p.Cys658Gly					NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.C662G|NR3C2_ENST00000342437.4_Missense_Mutation_p.C658G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Missense_Mutation_p.C658G|NR3C2_ENST00000512865.1_Missense_Mutation_p.C658G|NR3C2_ENST00000344721.4_Missense_Mutation_p.C658G	p.C662G			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	4	2346	-	all_hematologic(180;0.151)		658					B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1984T>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647870	0.87958	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95953	0.8956	9	.	.	.	.	16.2585	0.82528	1.0:0.0:0.0:0.0	.	658;658	B0ZBF5;B0ZBF6	.;.	G	658;662;658;658;658;662	ENSP00000341390:C658G;ENSP00000347441:C662G;ENSP00000350815:C658G;ENSP00000423510:C658G;ENSP00000343907:C658G;ENSP00000421481:C662G	.	C	-	1	0	NR3C2	149335389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.295000	0.77249	0.528000	0.53228	TGC		0.308	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			40	74	0	0	0	1	0	40	74				
CST1	1469	broad.mit.edu	37	20	23731410	23731410	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:23731410C>T	ENST00000304749.2	-	1	164	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	CST1_ENST00000398402.1_Missense_Mutation_p.G32S	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	32		Reactive site.			detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TAGATGCCACCCGGGATTATC	0.567																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(94-96)Ggt>Agt		cystatin SN							126.0	108.0	114.0					20																	23731410		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731410C>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.94G>A	20.37:g.23731410C>T	ENSP00000305731:p.Gly32Ser					CST1_ENST00000398402.1_Missense_Mutation_p.G32S	p.G32S	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN			1	164	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		32				Reactive site.	Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.94G>A	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311017	0.40895	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.55234	0.53;0.53	1.57	1.57	0.23409	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	M	0.92970	3.365	0.24684	N	0.99334	D	0.61080	0.989	P	0.57371	0.819	T	0.60286	-0.7293	10	0.66056	D	0.02	.	6.6309	0.22857	0.0:1.0:0.0:0.0	.	32	P01037	CYTN_HUMAN	S	32	ENSP00000305731:G32S;ENSP00000381439:G32S	ENSP00000305731:G32S	G	-	1	0	CST1	23679410	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	0.003000	0.13083	1.169000	0.42739	0.184000	0.17185	GGT		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		19	43	0	0	0	1	0	19	43				
CSMD3	114788	broad.mit.edu	37	8	113266529	113266529	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:113266529G>T	ENST00000297405.5	-	63	10307	c.10063C>A	c.(10063-10065)Cca>Aca	p.P3355T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P3186T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3285T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3315T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3355	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCACACCTGGGTTTTCACAA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10063-10065)Cca>Aca		CUB and Sushi multiple domains 3							190.0	190.0	190.0					8																	113266529		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113266529G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10063C>A	8.37:g.113266529G>T	ENSP00000297405:p.Pro3355Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.P3285T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3186T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3315T	p.P3355T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			63	10307	-			3355			Sushi 27.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10063C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492970	0.64186	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.22	5.22	0.72569	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.94968	0.8372	H	0.95816	3.725	0.58432	D	0.999999	D;D;P	0.89917	1.0;1.0;0.917	D;D;P	0.97110	0.999;1.0;0.693	D	0.95779	0.8815	10	0.62326	D	0.03	.	18.987	0.92775	0.0:0.0:1.0:0.0	.	3186;3355;3315	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3315;3355;2625;3186;3285	ENSP00000345799:P3315T;ENSP00000297405:P3355T;ENSP00000341558:P2625T;ENSP00000412263:P3186T;ENSP00000343124:P3285T	ENSP00000297405:P3355T	P	-	1	0	CSMD3	113335705	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.054000	0.93866	2.725000	0.93324	0.655000	0.94253	CCA		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		54	103	1	0	3.76997e-23	1	5.46852e-23	54	103				
DBX2	440097	broad.mit.edu	37	12	45410190	45410190	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:45410190T>C	ENST00000332700.6	-	4	1070	c.899A>G	c.(898-900)gAa>gGa	p.E300G		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	300					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GATTAGTCTTTCTGAAGGTTC	0.498																																						ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(898-900)gAa>gGa		developing brain homeobox 2							93.0	97.0	96.0					12																	45410190		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45410190T>C		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.899A>G	12.37:g.45410190T>C	ENSP00000331470:p.Glu300Gly						p.E300G	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	4	1070	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	300						Missense_Mutation	SNP	ENST00000332700.6	37	c.899A>G	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632243	0.87660	.	.	ENSG00000185610	ENST00000332700	D	0.91464	-2.85	5.95	5.95	0.96441	.	0.171306	0.41194	D	0.000921	D	0.89336	0.6686	L	0.36672	1.1	0.43683	D	0.996127	D	0.57257	0.979	P	0.49999	0.628	D	0.87764	0.2600	10	0.27082	T	0.32	-13.8418	16.4208	0.83758	0.0:0.0:0.0:1.0	.	300	Q6ZNG2	DBX2_HUMAN	G	300	ENSP00000331470:E300G	ENSP00000331470:E300G	E	-	2	0	DBX2	43696457	1.000000	0.71417	0.926000	0.36857	0.992000	0.81027	3.884000	0.56175	2.274000	0.75844	0.528000	0.53228	GAA		0.498	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		27	59	0	0	0	1	0	27	59				
KDELR1	10945	broad.mit.edu	37	19	48887696	48887696	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:48887696A>G	ENST00000330720.2	-	4	589	c.395T>C	c.(394-396)tTg>tCg	p.L132S	KDELR1_ENST00000597017.1_Missense_Mutation_p.L70S	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	132					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		CAGCTGCGGCAAGATGGCCAC	0.587																																						ENST00000597017.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(208-210)tTg>tCg		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1							44.0	39.0	41.0					19																	48887696		2203	4300	6503	SO:0001583	missense	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48887696A>G	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.395T>C	19.37:g.48887696A>G	ENSP00000329471:p.Leu132Ser					KDELR1_ENST00000330720.2_Missense_Mutation_p.L132S	p.L70S			P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	3	634	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	132					B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	c.209T>C	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517407	0.85495	.	.	ENSG00000105438	ENST00000330720	T	0.62364	0.03	4.75	4.75	0.60458	.	0.000000	0.47093	D	0.000258	D	0.85877	0.5799	H	0.97983	4.12	0.58432	D	0.999999	D	0.58970	0.984	D	0.70227	0.968	D	0.90739	0.4648	10	0.87932	D	0	.	13.6682	0.62409	1.0:0.0:0.0:0.0	.	132	P24390	ERD21_HUMAN	S	132	ENSP00000329471:L132S	ENSP00000329471:L132S	L	-	2	0	KDELR1	53579508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.011000	0.93618	2.132000	0.65825	0.533000	0.62120	TTG		0.587	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			11	23	0	0	0	1	0	11	23				
CFAP46	54777	broad.mit.edu	37	10	134664626	134664626	+	Missense_Mutation	SNP	C	C	A	rs143825819	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:134664626C>A	ENST00000368586.5	-	40	5858	c.5758G>T	c.(5758-5760)Ggc>Tgc	p.G1920C	TTC40_ENST00000263170.5_Missense_Mutation_p.G81C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATTACCAGGCCGACGGAAGTG	0.632																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(5758-5760)Ggc>Tgc		tetratricopeptide repeat domain 40							73.0	71.0	72.0					10																	134664626		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134664626C>A																												ENST00000368586.5:c.5758G>T	10.37:g.134664626C>A	ENSP00000357575:p.Gly1920Cys					TTC40_ENST00000263170.5_Missense_Mutation_p.G81C	p.G1920C	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			40	5858	-			81						Missense_Mutation	SNP	ENST00000368586.5	37	c.5758G>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303920	0.40795	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.12774	2.88;2.65	4.26	1.29	0.21616	.	0.498703	0.16393	N	0.216389	T	0.21881	0.0527	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.63113	0.911	T	0.06445	-1.0826	10	0.62326	D	0.03	.	5.3691	0.16131	0.0:0.6434:0.1659:0.1906	.	81	Q8IYW2	CJ092_HUMAN	C	1920;81	ENSP00000357575:G1920C;ENSP00000263170:G81C	ENSP00000263170:G81C	G	-	1	0	C10orf93	134514616	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.781000	0.26774	0.083000	0.17047	-0.150000	0.13652	GGC		0.632	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			21	69	1	0	5.26018e-13	1	6.55041e-13	21	69				
OR6F1	343169	broad.mit.edu	37	1	247875300	247875300	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:247875300C>T	ENST00000302084.2	-	1	805	c.758G>A	c.(757-759)gGg>gAg	p.G253E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G253L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AACTGTGGACCCATACCAAAT	0.527																																						ENST00000302084.2																			1	Substitution - Missense(1)	p.G253L(1)	lung(1)	breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(757-759)gGg>gAg		olfactory receptor, family 6, subfamily F, member 1							102.0	95.0	98.0					1																	247875300		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875300C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.758G>A	1.37:g.247875300C>T	ENSP00000305640:p.Gly253Glu					RP11-634B7.4_ENST00000449298.1_RNA	p.G253E	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	805	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		253					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.758G>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	8.857	0.946088	0.18356	.	.	ENSG00000169214	ENST00000302084	T	0.39056	1.1	3.72	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.158244	0.29676	N	0.011482	T	0.73900	0.3646	H	0.98646	4.29	0.09310	N	1	D	0.67145	0.996	D	0.64595	0.927	T	0.70439	-0.4871	10	0.87932	D	0	-14.8251	12.2692	0.54695	0.0:0.6711:0.3289:0.0	.	253	Q8NGZ6	OR6F1_HUMAN	E	253	ENSP00000305640:G253E	ENSP00000305640:G253E	G	-	2	0	OR6F1	245941923	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.061000	0.14366	0.320000	0.23234	-0.282000	0.10007	GGG		0.527	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		48	61	0	0	0	1	0	48	61				
CYP26A1	1592	broad.mit.edu	37	10	94834754	94834754	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:94834754G>A	ENST00000224356.4	+	3	678	c.633G>A	c.(631-633)gtG>gtA	p.V211V	CYP26A1_ENST00000371531.1_Silent_p.V142V|CYP26A1_ENST00000394139.1_Silent_p.V142V	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	211					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	AGCAGCTTGTGGAGGCCTTCG	0.642																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(424-426)gtG>gtA		cytochrome P450, family 26, subfamily A, polypeptide 1							37.0	42.0	40.0					10																	94834754		2202	4299	6501	SO:0001819	synonymous_variant	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834754G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.633G>A	10.37:g.94834754G>A						CYP26A1_ENST00000224356.4_Silent_p.V211V|CYP26A1_ENST00000394139.1_Silent_p.V142V	p.V142V	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			3	804	+		Colorectal(252;0.122)	211					B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	ENST00000224356.4	37	c.426G>A	CCDS7426.1																																																																																				0.642	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			37	75	0	0	0	1	0	37	75				
CILP	8483	broad.mit.edu	37	15	65489738	65489738	+	Silent	SNP	C	C	G	rs531290271		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:65489738C>G	ENST00000261883.4	-	9	3052	c.2886G>C	c.(2884-2886)ggG>ggC	p.G962G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	962					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTTCCAGTGGCCCCACAATCT	0.542																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2884-2886)ggG>ggC		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							105.0	97.0	100.0					15																	65489738		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489738C>G	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2886G>C	15.37:g.65489738C>G							p.G962G	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3052	-			962					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.2886G>C	CCDS10203.1																																																																																				0.542	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		25	65	0	0	0	1	0	25	65				
SI	6476	broad.mit.edu	37	3	164727128	164727128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:164727128C>T	ENST00000264382.3	-	35	4180	c.4118G>A	c.(4117-4119)tGg>tAg	p.W1373*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1373	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGGCCCACCACTCTGCTGT	0.378										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4117-4119)tGg>tAg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						88.0	89.0	89.0					3																	164727128		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164727128C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4118G>A	3.37:g.164727128C>T	ENSP00000264382:p.Trp1373*	HNSCC(35;0.089)					p.W1373*	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			35	4180	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1373			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.4118G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420390	0.98803	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3927	0.87436	0.0:1.0:0.0:0.0	.	.	.	.	X	1373	.	ENSP00000264382:W1373X	W	-	2	0	SI	166209822	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.059000	0.76684	2.335000	0.79485	0.491000	0.48974	TGG		0.378	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		22	58	0	0	0	1	0	22	58				
OR2W5	441932	broad.mit.edu	37	1	247655221	247655221	+	RNA	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:247655221A>G	ENST00000522351.1	+	0	852							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGCCGGCCAACAGCTACTCC	0.522																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															130.0	114.0	120.0					1																	247655221		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655221A>G			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655221A>G										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	852	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.522	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		60	70	0	0	0	1	0	60	70				
ASB5	140458	broad.mit.edu	37	4	177190254	177190254	+	Silent	SNP	C	C	A	rs559244303		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:177190254C>A	ENST00000296525.3	-	1	119	c.6G>T	c.(4-6)tcG>tcT	p.S2S		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	2					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CTTCTAACACCGACATTGCTG	0.458																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(4-6)tcG>tcT		ankyrin repeat and SOCS box containing 5							67.0	65.0	66.0					4																	177190254		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177190254C>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.6G>T	4.37:g.177190254C>A							p.S2S	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	119	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	2					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.6G>T	CCDS3827.1																																																																																				0.458	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			28	34	1	0	4.22769e-11	1	5.11978e-11	28	34				
FAM47C	442444	broad.mit.edu	37	X	37027083	37027083	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:37027083G>T	ENST00000358047.3	+	1	652	c.600G>T	c.(598-600)ccG>ccT	p.P200P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	200										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCTCCCCCCGGAGCCTCCCA	0.642																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(598-600)ccG>ccT		family with sequence similarity 47, member C							26.0	29.0	28.0					X																	37027083		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027083G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.600G>T	X.37:g.37027083G>T							p.P200P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	652	+			200					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.600G>T	CCDS35227.1																																																																																				0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		11	51	1	0	1.08611e-07	1	1.21755e-07	11	51				
NDST1	3340	broad.mit.edu	37	5	149927843	149927844	+	Missense_Mutation	DNP	GG	GG	CT	rs371359917		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:149927843_149927844GG>CT	ENST00000261797.6	+	12	2711_2712	c.2209_2210GG>CT	c.(2209-2211)GGc>CTc	p.G737L	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	737	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTACCGCCGGCTCTGACGCA	0.624																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2209-2211)Ggc>Cgc|c.(2209-2211)gGc>gTc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1																																				SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149927843G>C|g.chr5:149927844G>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		Exception_encountered	5.37:g.149927843_149927844delinsCT	ENSP00000261797:p.Gly737Leu					NDST1_ENST00000523767.1_Intron	p.G737R|p.G737V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	2711|2712	+		all_hematologic(541;0.224)	737			Heparan sulfate N-sulfotransferase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.2209G>C|c.2210G>T	CCDS34277.1																																																																																				0.624	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		25	50|51	0|1	0	0|0.000720815	1	0|0.000753644	25	50				
DDX51	317781	broad.mit.edu	37	12	132627289	132627289	+	Silent	SNP	G	G	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:132627289G>T	ENST00000397333.3	-	3	692	c.654C>A	c.(652-654)atC>atA	p.I218I	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	218					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AGTAGGACGAGATGCCGTGTG	0.617																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(652-654)atC>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							66.0	74.0	71.0					12																	132627289		2091	4204	6295	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132627289G>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.654C>A	12.37:g.132627289G>T							p.I218I	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	3	692	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	218					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.654C>A	CCDS41865.1																																																																																				0.617	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		28	51	1	0	4.43304e-23	1	6.41272e-23	28	51				
FOXO1	2308	broad.mit.edu	37	13	41134046	41134046	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr13:41134046C>A	ENST00000379561.5	-	2	1966	c.1582G>T	c.(1582-1584)Gct>Tct	p.A528S	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	528	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTCTGCTGAGCATGTCCAGGG	0.557																																						ENST00000379561.5																		PAX7/FOXO1(197)|PAX3/FOXO1(749)	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20						c.(1582-1584)Gct>Tct		forkhead box O1							125.0	114.0	118.0					13																	41134046		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134046C>A		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1582G>T	13.37:g.41134046C>A	ENSP00000368880:p.Ala528Ser						p.A528S	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1966	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	528					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.1582G>T	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.212906	0.01555	.	.	ENSG00000150907	ENST00000379561	D	0.93547	-3.24	5.87	-2.55	0.06288	.	0.765575	0.11837	N	0.524618	T	0.80314	0.4600	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.67229	-0.5723	10	0.08381	T	0.77	-0.5722	1.7415	0.02953	0.2422:0.1712:0.1089:0.4777	.	528	Q12778	FOXO1_HUMAN	S	528	ENSP00000368880:A528S	ENSP00000368880:A528S	A	-	1	0	FOXO1	40032046	0.016000	0.18221	0.001000	0.08648	0.502000	0.33828	0.266000	0.18534	-0.168000	0.10853	-0.137000	0.14449	GCT		0.557	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		36	35	1	0	2.05212e-20	1	2.87405e-20	36	35				
KCNU1	157855	broad.mit.edu	37	8	36675183	36675183	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:36675183T>A	ENST00000399881.3	+	10	1048	c.1011T>A	c.(1009-1011)tgT>tgA	p.C337*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	337					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGTGGTCTGTGGAAACATCA	0.453																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1009-1011)tgT>tgA		potassium channel, subfamily U, member 1							154.0	142.0	146.0					8																	36675183		1967	4160	6127	SO:0001587	stop_gained	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36675183T>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1011T>A	8.37:g.36675183T>A	ENSP00000382770:p.Cys337*						p.C337*	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	10	1048	+			337						Nonsense_Mutation	SNP	ENST00000399881.3	37	c.1011T>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	38	6.758727	0.97817	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.31	1.68	0.24146	.	0.000000	0.41712	U	0.000823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2481	7.4351	0.27150	0.0:0.255:0.0:0.745	.	.	.	.	X	337	.	ENSP00000382770:C337X	C	+	3	2	KCNU1	36794341	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	0.638000	0.24674	0.417000	0.25871	0.533000	0.62120	TGT		0.453	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		33	29	0	0	0	1	0	33	29				
EXOSC1	51013	broad.mit.edu	37	10	99203063	99203063	+	Silent	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:99203063T>A	ENST00000370902.3	-	3	184	c.153A>T	c.(151-153)ccA>ccT	p.P51P	ZDHHC16_ENST00000370846.4_5'Flank|ZDHHC16_ENST00000352634.4_5'Flank|ZDHHC16_ENST00000353979.3_5'Flank|EXOSC1_ENST00000471049.1_5'UTR|ZDHHC16_ENST00000370854.3_5'Flank|EXOSC1_ENST00000370885.4_Intron|ZDHHC16_ENST00000393760.1_5'Flank|EXOSC1_ENST00000485122.2_Silent_p.P51P|ZDHHC16_ENST00000370842.2_5'Flank|EXOSC1_ENST00000370886.5_Silent_p.P51P|ZDHHC16_ENST00000345745.5_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	51					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CAGACACCACTGGAAGCTACA	0.438																																						ENST00000370902.3																			0				breast(1)|endometrium(1)|lung(5)	7						c.(151-153)ccA>ccT		exosome component 1							208.0	194.0	199.0					10																	99203063		2203	4300	6503	SO:0001819	synonymous_variant	51013				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	g.chr10:99203063T>A	AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"""CSL4 exosomal core protein homolog (yeast)"""	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.153A>T	10.37:g.99203063T>A						EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000485122.2_Silent_p.P51P|EXOSC1_ENST00000370886.5_Silent_p.P51P	p.P51P	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)	3	184	-		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)	51					B2R9B3|Q5JTH3	Silent	SNP	ENST00000370902.3	37	c.153A>T	CCDS7459.1																																																																																				0.438	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049680.1			54	114	0	0	0	1	0	54	114				
PLCB2	5330	broad.mit.edu	37	15	40587217	40587217	+	Missense_Mutation	SNP	C	C	T	rs376425228		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:40587217C>T	ENST00000260402.3	-	18	2075	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	609	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAGTCCATGCGGGTTCCCTT	0.567																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1825-1827)cGc>cAc		phospholipase C, beta 2		C	HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	144.0	155.0	151.0		1826	4.8	1.0	15		151	0,8600		0,0,4300	no	missense	PLCB2	NM_004573.2	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	609/1186	40587217	1,12997	2199	4300	6499	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40587217C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1826G>A	15.37:g.40587217C>T	ENSP00000260402:p.Arg609His					PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H	p.R609H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	18	2075	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	609			PI-PLC Y-box.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1826G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212674	0.95069	2.27E-4	0.0	ENSG00000137841	ENST00000260402;ENST00000456256	D;D	0.83250	-1.7;-1.7	4.76	4.76	0.60689	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96368	0.9271	10	0.87932	D	0	.	18.3147	0.90215	0.0:1.0:0.0:0.0	.	609;605;609	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	609	ENSP00000260402:R609H;ENSP00000411991:R609H	ENSP00000260402:R609H	R	-	2	0	PLCB2	38374509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.642000	0.89623	0.655000	0.94253	CGC		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			107	61	0	0	0	1	0	107	61				
UGT1A1	54658	broad.mit.edu	37	2	234526584	234526584	+	Silent	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:234526584C>T	ENST00000373450.4	+	1	294	c.231C>T	c.(229-231)taC>taT	p.Y77Y		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	79					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGAAGACTTACTCAACCTCAT	0.463																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(229-231)taC>taT									134.0	124.0	127.0					2																	234526584		2203	4300	6503	SO:0001819	synonymous_variant	54576							g.chr2:234526584C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.231C>T	2.37:g.234526584C>T							p.Y77Y	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	294	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Silent	SNP	ENST00000373450.4	37	c.231C>T	CCDS33402.1																																																																																				0.463	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			63	107	0	0	0	1	0	63	107				
TRAV3	28690	broad.mit.edu	37	14	22192375	22192375	+	RNA	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:22192375T>A	ENST00000390425.2	+	0	326									T cell receptor alpha variable 3 (gene/pseudogene)																		CTGGAAACCCTTATCTTTTTT	0.483																																						ENST00000390425.2																			0																				108.0	105.0	106.0					14																	22192375		1885	4114	5999			28690							g.chr14:22192375T>A	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192375T>A														0	326	+									RNA	SNP	ENST00000390425.2	37																																																																																						0.483	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		32	61	0	0	0	1	0	32	61				
FAM174B	400451	broad.mit.edu	37	15	93173525	93173525	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:93173525G>A	ENST00000327355.5	-	2	693	c.395C>T	c.(394-396)cCa>cTa	p.P132L	FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	132						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						TCGCTCTGCTGGAGTGGTGAT	0.473																																						ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(394-396)cCa>cTa		family with sequence similarity 174, member B							123.0	120.0	121.0					15																	93173525		2107	4220	6327	SO:0001583	missense	400451					integral to membrane		g.chr15:93173525G>A		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.395C>T	15.37:g.93173525G>A	ENSP00000329040:p.Pro132Leu					FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR	p.P132L	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			2	693	-			132					Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	c.395C>T	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366955	0.82463	.	.	ENSG00000185442	ENST00000327355	T	0.44482	0.92	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.63474	0.2514	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66002	-0.6031	10	0.87932	D	0	-8.244	17.8724	0.88815	0.0:0.0:1.0:0.0	.	132	Q3ZCQ3	F174B_HUMAN	L	132	ENSP00000329040:P132L	ENSP00000329040:P132L	P	-	2	0	FAM174B	90974529	1.000000	0.71417	0.693000	0.30195	0.516000	0.34256	8.622000	0.90953	2.525000	0.85131	0.591000	0.81541	CCA		0.473	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		27	17	0	0	0	1	0	27	17				
CDH3	1001	broad.mit.edu	37	16	68718695	68718695	+	Silent	SNP	A	A	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:68718695A>G	ENST00000264012.4	+	10	1936	c.1392A>G	c.(1390-1392)gcA>gcG	p.A464A	CDH3_ENST00000429102.2_Silent_p.A464A|CDH3_ENST00000581171.1_Silent_p.A409A	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	464	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TCTACACTGCAGAAGACCCTG	0.547																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1390-1392)gcA>gcG		cadherin 3, type 1, P-cadherin (placental)							129.0	134.0	132.0					16																	68718695		2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718695A>G	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1392A>G	16.37:g.68718695A>G						CDH3_ENST00000429102.2_Silent_p.A464A|CDH3_ENST00000581171.1_Silent_p.A409A	p.A464A	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1936	+		Ovarian(137;0.0564)	464			Cadherin 4.		B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.1392A>G	CCDS10868.1																																																																																				0.547	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		114	46	0	0	0	1	0	114	46				
ASAP1	50807	broad.mit.edu	37	8	131172131	131172131	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:131172131T>A	ENST00000518721.1	-	12	1216	c.989A>T	c.(988-990)tAc>tTc	p.Y330F	ASAP1_ENST00000357668.1_Missense_Mutation_p.Y330F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	330	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTTAGCAGGTACCCCTTCTT	0.453																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(988-990)tAc>tTc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							203.0	185.0	191.0					8																	131172131		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131172131T>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.989A>T	8.37:g.131172131T>A	ENSP00000429900:p.Tyr330Phe					ASAP1_ENST00000518721.1_Missense_Mutation_p.Y330F	p.Y330F			Q9ULH1	ASAP1_HUMAN			11	1016	-			330			PH.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.989A>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336656	0.24253	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	T;T;T	0.05925	3.37;3.37;3.37	5.74	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.057604	0.64402	N	0.000001	T	0.11793	0.0287	L	0.31120	0.905	0.58432	D	0.999997	B;B;D	0.57571	0.011;0.011;0.98	B;B;D	0.71870	0.055;0.055;0.975	T	0.31888	-0.9927	10	0.14656	T	0.56	.	10.3478	0.43916	0.1519:0.0:0.0:0.8481	.	330;330;333	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	F	333;330;330;300	ENSP00000350297:Y330F;ENSP00000429900:Y330F;ENSP00000430588:Y300F	ENSP00000344591:Y333F	Y	-	2	0	ASAP1	131241313	1.000000	0.71417	0.990000	0.47175	0.848000	0.48234	4.405000	0.59741	1.065000	0.40693	0.460000	0.39030	TAC		0.453	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		34	101	0	0	0	1	0	34	101				
GALNT13	114805	broad.mit.edu	37	2	155099299	155099299	+	Silent	SNP	A	A	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:155099299A>T	ENST00000392825.3	+	6	1134	c.567A>T	c.(565-567)atA>atT	p.I189I	GALNT13_ENST00000409237.1_Silent_p.I189I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	189	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTGGGTTAATACGTGCCCGTC	0.423																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(565-567)atA>atT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							64.0	64.0	64.0					2																	155099299		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099299A>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.567A>T	2.37:g.155099299A>T						GALNT13_ENST00000409237.1_Silent_p.I189I	p.I189I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			6	1134	+			189			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.567A>T	CCDS2199.1																																																																																				0.423	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		21	44	0	0	0	1	0	21	44				
TTLL7	79739	broad.mit.edu	37	1	84403604	84403604	+	Silent	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:84403604G>A	ENST00000260505.8	-	8	1196	c.819C>T	c.(817-819)tcC>tcT	p.S273S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	273	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACCATTTGATGGAACGTTTGC	0.373																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(817-819)tcC>tcT		tubulin tyrosine ligase-like family, member 7							287.0	255.0	266.0					1																	84403604		2203	4300	6503	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84403604G>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.819C>T	1.37:g.84403604G>A						TTLL7_ENST00000477524.1_5'UTR	p.S273S	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	8	1196	-			273			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.819C>T	CCDS690.2																																																																																				0.373	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		44	41	0	0	0	1	0	44	41				
RHOA	387	broad.mit.edu	37	3	49395430	49395430	+	IGR	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:49395430C>A	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Intron|GPX1_ENST00000419349.1_Silent_p.G94G|GPX1_ENST00000496791.1_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCACGTCCGCccccgccccgc	0.716																																						ENST00000419349.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(280-282)ggG>ggT		glutathione peroxidase 1	Glutathione(DB00143)						4.0	6.0	6.0					3																	49395430		1676	3653	5329	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395430C>A	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395430C>A						GPX1_ENST00000419783.1_Intron|GPX1_ENST00000496791.1_Intron	p.G94G	NM_201397.1	NP_958799.1	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	286	-			185					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	c.282G>T	CCDS2795.1																																																																																				0.716	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		3	7	1	0	1	1	1	3	7				
FAT4	79633	broad.mit.edu	37	4	126239735	126239735	+	Silent	SNP	T	T	G			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:126239735T>G	ENST00000394329.3	+	1	2182	c.2169T>G	c.(2167-2169)acT>acG	p.T723T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	723	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						CCAATGGTACTGTCAAATATA	0.473																																						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.(2167-2169)acT>acG		FAT atypical cadherin 4							75.0	76.0	75.0					4																	126239735		1998	4174	6172	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239735T>G	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.2169T>G	4.37:g.126239735T>G							p.T723T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2182	+			723			Cadherin 7.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.2169T>G	CCDS3732.3																																																																																				0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		23	52	0	0	0	1	0	23	52				
SLCO1B3	28234	broad.mit.edu	37	12	21051404	21051404	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:21051404G>C	ENST00000381545.3	+	14	1936	c.1717G>C	c.(1717-1719)Ggt>Cgt	p.G573R	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G573R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G573R|LST3_ENST00000540229.1_Missense_Mutation_p.G573R|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	573					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ACTTGCAATGGGTTTCCAGTC	0.264																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1717-1719)Ggt>Cgt		solute carrier organic anion transporter family, member 1B3							90.0	86.0	88.0					12																	21051404		2203	4295	6498	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21051404G>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1717G>C	12.37:g.21051404G>C	ENSP00000370956:p.Gly573Arg					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G573R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G573R|LST3_ENST00000540229.1_Missense_Mutation_p.G573R|LST3_ENST00000381541.3_Intron	p.G573R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			14	1936	+	Esophageal squamous(101;0.149)		573					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1717G>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.012473	0.35511	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;D;T	0.87029	-0.52;-0.52;-0.52;-2.2;-0.52	3.7	3.7	0.42460	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.95496	0.8573	10	0.87932	D	0	.	11.1515	0.48462	0.0:0.0:1.0:0.0	.	573;573;573	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	R	573;573;573;397;573	ENSP00000261196:G573R;ENSP00000370956:G573R;ENSP00000451758:G573R;ENSP00000443225:G397R;ENSP00000441269:G573R	ENSP00000441269:G573R	G	+	1	0	SLCO1B3;RP11-545J16.1	20942671	1.000000	0.71417	0.988000	0.46212	0.114000	0.19823	6.274000	0.72587	2.058000	0.61347	0.455000	0.32223	GGT		0.264	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		29	76	0	0	0	1	0	29	76				
CREG1	8804	broad.mit.edu	37	1	167515387	167515387	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:167515387C>A	ENST00000370509.4	-	3	635	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C	CREG1_ENST00000466652.1_5'UTR	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	204					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										TTTGGTCCACCAAAGTAGTCC	0.413																																						ENST00000370509.4																			0											c.(610-612)Ggt>Tgt		cellular repressor of E1A-stimulated genes 1							75.0	77.0	77.0					1																	167515387		2203	4300	6503	SO:0001583	missense	8804				cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity	g.chr1:167515387C>A	AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"""cellular repressor of E1A-stimulated genes"""	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.610G>T	1.37:g.167515387C>A	ENSP00000359540:p.Gly204Cys					CREG1_ENST00000466652.1_5'UTR	p.G204C	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN			3	635	-			204					B2RDD4|Q8N9A3	Missense_Mutation	SNP	ENST00000370509.4	37	c.610G>T	CCDS1262.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851540	0.91355	.	.	ENSG00000143162	ENST00000370509	.	.	.	5.86	5.86	0.93980	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	M	0.91768	3.24	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.88780	0.3270	8	0.87932	D	0	0.4425	20.1772	0.98182	0.0:1.0:0.0:0.0	.	204	O75629	CREG1_HUMAN	C	204	.	ENSP00000359540:G204C	G	-	1	0	CREG1	165782011	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.030000	0.76484	2.778000	0.95560	0.655000	0.94253	GGT		0.413	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083911.1	NM_003851		13	39	1	0	5.50884e-06	1	5.98491e-06	13	39				
TRIP11	9321	broad.mit.edu	37	14	92505994	92505994	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:92505994C>A	ENST00000267622.4	-	1	409	c.36G>T	c.(34-36)ttG>ttT	p.L12F	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	12					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GAGACTGGCCCAATCCGGAGC	0.602			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(34-36)ttG>ttT		thyroid hormone receptor interactor 11							26.0	24.0	25.0					14																	92505994		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92505994C>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.36G>T	14.37:g.92505994C>A	ENSP00000267622:p.Leu12Phe					TRIP11_ENST00000555105.1_5'UTR	p.L12F	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	1	409	-			12					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.36G>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011689	0.54468	.	.	ENSG00000100815	ENST00000267622	T	0.68331	-0.32	5.57	1.56	0.23342	.	0.000000	0.64402	D	0.000010	T	0.50103	0.1596	L	0.29908	0.895	0.40288	D	0.978474	P	0.46142	0.873	B	0.42959	0.403	T	0.46748	-0.9169	10	0.87932	D	0	.	4.3016	0.10927	0.1172:0.4107:0.342:0.1302	.	12	Q15643	TRIPB_HUMAN	F	12	ENSP00000267622:L12F	ENSP00000267622:L12F	L	-	3	2	TRIP11	91575747	0.979000	0.34478	0.996000	0.52242	0.876000	0.50452	0.116000	0.15561	0.019000	0.15079	-0.273000	0.10243	TTG		0.602	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			9	12	1	0	0.0581538	1	0.0589351	9	12				
MIR377	494326	broad.mit.edu	37	14	101526116	101526116	+	RNA	SNP	G	G	T	rs575922548		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr14:101526116G>T	ENST00000362145.2	+	0	0				MIR154_ENST00000385243.1_RNA|MIR496_ENST00000385226.1_RNA	NR_029869.1				microRNA 377																		TAGGTTATCCGTGTTGCCTTC	0.502																																						ENST00000385243.1																			0																				271.0	245.0	253.0					14																	101526116		1568	3582	5150			406946							g.chr14:101526116G>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101526116G>T								NR_029704.1						0	25	+									RNA	SNP	ENST00000362145.2	37																																																																																						0.502	MIR377-201	KNOWN	basic	miRNA	miRNA		NR_029869		93	230	1	0	4.95785e-36	1	7.69924e-36	93	230				
NAALADL2	254827	broad.mit.edu	37	3	174814852	174814852	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:174814852T>A	ENST00000454872.1	+	2	444	c.316T>A	c.(316-318)Tac>Aac	p.Y106N	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	106						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGAATCTGACTACATTACCCA	0.408																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(316-318)Tac>Aac		N-acetylated alpha-linked acidic dipeptidase-like 2							74.0	73.0	73.0					3																	174814852		1866	4107	5973	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814852T>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.316T>A	3.37:g.174814852T>A	ENSP00000404705:p.Tyr106Asn					NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	p.Y106N	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	444	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	106					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.316T>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212240	0.58452	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.51325	0.71;1.12	5.72	5.72	0.89469	.	0.275955	0.26140	N	0.026114	T	0.54398	0.1856	L	0.27053	0.805	0.36343	D	0.859629	D;D	0.60575	0.988;0.979	P;P	0.61201	0.885;0.671	T	0.64232	-0.6456	10	0.62326	D	0.03	-4.416	16.3035	0.82836	0.0:0.0:0.0:1.0	.	89;106	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	N	89;106	ENSP00000409858:Y89N;ENSP00000404705:Y106N	ENSP00000409858:Y89N	Y	+	1	0	NAALADL2	176297546	1.000000	0.71417	0.963000	0.40424	0.977000	0.68977	6.137000	0.71710	2.299000	0.77371	0.528000	0.53228	TAC		0.408	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		20	79	0	0	0	1	0	20	79				
ROCK1	6093	broad.mit.edu	37	18	18629092	18629092	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr18:18629092C>A	ENST00000399799.2	-	4	1315	c.375G>T	c.(373-375)agG>agT	p.R125S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCATGATGTCCCTTTCTTCCC	0.383																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(373-375)agG>agT		Rho-associated, coiled-coil containing protein kinase 1							97.0	94.0	95.0					18																	18629092		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18629092C>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.375G>T	18.37:g.18629092C>A	ENSP00000382697:p.Arg125Ser						p.R125S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			4	1315	-	Melanoma(1;0.165)		125			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.375G>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208213	0.79240	.	.	ENSG00000067900	ENST00000399799	T	0.24723	1.84	5.94	-2.19	0.07015	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	0.43634	0.1256	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44636	-0.9315	10	0.87932	D	0	.	12.6539	0.56776	0.0:0.4034:0.0:0.5966	.	125	Q13464	ROCK1_HUMAN	S	125	ENSP00000382697:R125S	ENSP00000382697:R125S	R	-	3	2	ROCK1	16883090	0.804000	0.28969	0.994000	0.49952	0.991000	0.79684	-0.007000	0.12810	-0.207000	0.10187	-0.377000	0.06932	AGG		0.383	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		82	24	1	0	3.1711e-36	1	4.95366e-36	82	24				
SLC2A13	114134	broad.mit.edu	37	12	40265747	40265747	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:40265747T>A	ENST00000280871.4	-	5	1101	c.1051A>T	c.(1051-1053)Att>Ttt	p.I351F		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	351					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATCTGCAGAATGGTTGCACTG	0.373										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1051-1053)Att>Ttt		solute carrier family 2 (facilitated glucose transporter), member 13							67.0	61.0	63.0					12																	40265747		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40265747T>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1051A>T	12.37:g.40265747T>A	ENSP00000280871:p.Ile351Phe	HNSCC(50;0.14)					p.I351F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			5	1101	-		Lung NSC(34;0.105)|all_lung(34;0.123)	351					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1051A>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737681	0.89573	.	.	ENSG00000151229	ENST00000280871	T	0.80214	-1.35	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.096903	0.64402	D	0.000002	D	0.89605	0.6763	M	0.77616	2.38	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	D	0.90803	0.4695	10	0.87932	D	0	-20.0499	16.2962	0.82776	0.0:0.0:0.0:1.0	.	351	Q96QE2	MYCT_HUMAN	F	351	ENSP00000280871:I351F	ENSP00000280871:I351F	I	-	1	0	SLC2A13	38552014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.304000	0.77564	0.528000	0.53228	ATT		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			26	42	0	0	0	1	0	26	42				
ZPBP	11055	broad.mit.edu	37	7	50022996	50022996	+	Silent	SNP	G	G	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:50022996G>C	ENST00000046087.2	-	7	972	c.903C>G	c.(901-903)cgC>cgG	p.R301R	ZPBP_ENST00000419417.1_Silent_p.R300R|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	301					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTGGAAAGCAGCGATTAATCC	0.338																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(901-903)cgC>cgG		zona pellucida binding protein							91.0	86.0	88.0					7																	50022996		2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50022996G>C	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.903C>G	7.37:g.50022996G>C						ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Silent_p.R300R	p.R301R	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			7	972	-	Glioma(55;0.08)|all_neural(89;0.245)		301					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.903C>G	CCDS5509.1																																																																																				0.338	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		17	379	0	0	0	1	0	17	379				
AMBRA1	55626	broad.mit.edu	37	11	46515686	46515686	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr11:46515686C>T	ENST00000458649.2	-	10	2826	c.2408G>A	c.(2407-2409)cGc>cAc	p.R803H	AMBRA1_ENST00000534300.1_Missense_Mutation_p.R743H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R774H|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R684H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R713H|AMBRA1_ENST00000529963.1_5'UTR|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R774H|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R743H			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	803					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)		TGGGACAAAGCGTCCAAGCGA	0.468																																						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.(2407-2409)cGc>cAc		autophagy/beclin-1 regulator 1							48.0	44.0	45.0					11																	46515686		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46515686C>T	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.2408G>A	11.37:g.46515686C>T	ENSP00000415327:p.Arg803His					AMBRA1_ENST00000529963.1_5'UTR|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R743H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R774H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R743H|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R684H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R774H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R713H	p.R803H			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	10	2826	-			803					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.2408G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.231438	0.95207	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	D;D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93713	0.7991	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.83275	0.996;0.994;0.994;0.994;0.996;0.994	D	0.94716	0.7896	10	0.87932	D	0	.	18.8472	0.92212	0.0:1.0:0.0:0.0	.	803;774;743;684;806;713	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	H	713;684;743;774;743;803;774	ENSP00000318313:R713H;ENSP00000433372:R684H;ENSP00000431926:R743H;ENSP00000410899:R774H;ENSP00000298834:R743H;ENSP00000415327:R803H;ENSP00000433945:R774H	ENSP00000298834:R743H	R	-	2	0	AMBRA1	46472262	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.119000	0.77145	2.526000	0.85167	0.655000	0.94253	CGC		0.468	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		10	1	0	0	0	1	0	10	1				
SLIT1	6585	broad.mit.edu	37	10	98799785	98799785	+	Silent	SNP	G	G	T	rs199850565		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:98799785G>T	ENST00000266058.4	-	21	2502	c.2257C>A	c.(2257-2259)Cgg>Agg	p.R753R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.R753R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	753	LRRNT 4.				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)		GGCAGGGCCCGCAGGTGCTTG	0.662																																						ENST00000266058.4																			0				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						c.(2257-2259)Cgg>Agg		slit homolog 1 (Drosophila)							61.0	53.0	56.0					10																	98799785		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98799785G>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.2257C>A	10.37:g.98799785G>T						SLIT1_ENST00000371070.4_Silent_p.R753R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.R753R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	21	2502	-		Colorectal(252;0.162)	753			LRRNT 4.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.2257C>A	CCDS7453.1																																																																																				0.662	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		12	39	1	0	4.3838e-07	1	4.87294e-07	12	39				
SVEP1	79987	broad.mit.edu	37	9	113312289	113312289	+	Silent	SNP	C	C	A	rs202182711	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:113312289C>A	ENST00000401783.2	-	2	963	c.627G>T	c.(625-627)gcG>gcT	p.A209A	SVEP1_ENST00000374469.1_Silent_p.A186A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.A209A|SVEP1_ENST00000374461.1_Silent_p.A186A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	209	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCGCAGTGACGCTGCAATTG	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(625-627)gcG>gcT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							152.0	149.0	150.0					9																	113312289		1942	4154	6096	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312289C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.627G>T	9.37:g.113312289C>A						SVEP1_ENST00000302728.8_Silent_p.A209A|SVEP1_ENST00000374469.1_Silent_p.A186A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Silent_p.A186A	p.A209A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	963	-			209			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.627G>T	CCDS48004.1																																																																																				0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				36	27	1	0	7.11191e-15	1	9.20364e-15	36	27				
ATXN2L	11273	broad.mit.edu	37	16	28841988	28841988	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:28841988G>A	ENST00000336783.4	+	9	1254	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	ATXN2L_ENST00000340394.8_Missense_Mutation_p.G363R|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G363R|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G363R|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G363R|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G363R|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G363R|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	363					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCCGGGGAGGAGTTCGATG	0.602																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1087-1089)Gga>Aga		ataxin 2-like							43.0	43.0	43.0					16																	28841988		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28841988G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1087G>A	16.37:g.28841988G>A	ENSP00000338718:p.Gly363Arg					ATXN2L_ENST00000382686.4_Missense_Mutation_p.G363R|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G363R|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G363R|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G363R|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G363R|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G363R	p.G363R	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			9	1254	+			363					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1087G>A	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	25.5	4.641939	0.87859	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.46063	0.9;0.88;0.89;0.9;0.89	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.58466	0.2124	L	0.44542	1.39	0.53005	D	0.999966	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.997;0.998;1.0;0.999;0.997;0.999	T	0.50466	-0.8825	10	0.34782	T	0.22	-7.6305	18.8117	0.92059	0.0:0.0:1.0:0.0	.	363;363;363;363;363;363;363;363	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	R	363	ENSP00000341459:G363R;ENSP00000378917:G363R;ENSP00000338718:G363R;ENSP00000372133:G363R;ENSP00000315650:G363R	ENSP00000315650:G363R	G	+	1	0	ATXN2L	28749489	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.054000	0.76649	2.750000	0.94351	0.563000	0.77884	GGA		0.602	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		10	50	0	0	0	1	0	10	50				
HNRNPCL1	343069	broad.mit.edu	37	1	12907671	12907671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:12907671delT	ENST00000317869.6	-	2	697	c.472delA	c.(472-474)agtfs	p.S158fs		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	158						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTGAAGCCACTTTTGCCCCTT	0.502																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(472-474)gtfs		heterogeneous nuclear ribonucleoprotein C-like 1							130.0	141.0	137.0					1																	12907671		2202	4297	6499	SO:0001589	frameshift_variant	343069							g.chr1:12907671delT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.472delA	1.37:g.12907671delT	ENSP00000365370:p.Ser158fs						p.S158fs	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	697	-								B2RP44	Frame_Shift_Del	DEL	ENST00000317869.6	37	c.472delA	CCDS30591.1																																																																																				0.502	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		72	163						72	163	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103461597	103461597	+	Splice_Site	DEL	C	C	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:103461597delC	ENST00000370096.3	-	27	2555	c.2243delG	c.(2242-2244)ggt>gt	p.G748fs	COL11A1_ENST00000358392.2_Splice_Site_p.G760fs|COL11A1_ENST00000512756.1_Splice_Site_p.G632fs|COL11A1_ENST00000353414.4_Splice_Site_p.G709fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	748	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGGGGACCCTGAAATAG	0.363																																						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.e27-1		collagen, type XI, alpha 1							39.0	44.0	42.0					1																	103461597		2201	4300	6501	SO:0001630	splice_region_variant	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.chr1:103461597delC	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.2242-1G>-	1.37:g.103461597delC						COL11A1_ENST00000370096.3_Splice_Site_p.G748_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G709_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G632_splice	p.G760_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	27	2596	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	748			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	DEL	ENST00000370096.3	37	c.2277_splice	CCDS778.1																																																																																				0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Frame_Shift_Del	42	38						42	38	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157508906	157508906	+	Frame_Shift_Del	DEL	G	G	-	rs149906130	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:157508906delG	ENST00000361835.3	-	7	1529	c.1372delC	c.(1372-1374)cgcfs	p.R458fs	FCRL5_ENST00000368191.3_Frame_Shift_Del_p.R373fs|FCRL5_ENST00000356953.4_Frame_Shift_Del_p.R458fs|FCRL5_ENST00000368190.3_Frame_Shift_Del_p.R458fs|FCRL5_ENST00000368189.3_Frame_Shift_Del_p.R458fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	458	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCCTTACTGCGCTGGGGGCCA	0.582																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1372-1374)gcfs		Fc receptor-like 5							58.0	49.0	52.0					1																	157508906		2203	4300	6503	SO:0001589	frameshift_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157508906delG	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1372delC	1.37:g.157508906delG	ENSP00000354691:p.Arg458fs					FCRL5_ENST00000368191.3_Frame_Shift_Del_p.R373fs|FCRL5_ENST00000368190.3_Frame_Shift_Del_p.R458fs|FCRL5_ENST00000368189.3_Frame_Shift_Del_p.R458fs|FCRL5_ENST00000356953.4_Frame_Shift_Del_p.R458fs	p.R458fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			7	1529	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	458			Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Frame_Shift_Del	DEL	ENST00000361835.3	37	c.1372delC	CCDS1165.1																																																																																				0.582	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		13	48						13	48	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183518986	183518987	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:183518986_183518987insT	ENST00000347615.2	+	19	3030_3031	c.2911_2912insT	c.(2911-2913)gccfs	p.A971fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.A883fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.A925fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.A979fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.A975fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.A1004fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	971	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCCCTCAATGGCCCCCCAGGAA	0.426																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3010-3012)cccfs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183518986_183518987insT	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	Exception_encountered	1.37:g.183518986_183518987insT	ENSP00000340766:p.Ala971fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.P925fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.P883fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.P979fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.P975fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.P971fs	p.P1004fs			Q92540	SMG7_HUMAN			21	3205_3206	+			971			Ser-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.3010_3011insT	CCDS1355.1																																																																																				0.426	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		41	88						41	88	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248028102	248028102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr1:248028102delG	ENST00000366481.3	+	3	660	c.612delG	c.(610-612)ctgfs	p.L204fs		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	204						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGGCGGCTGGAGGCGGAGG	0.627																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(610-612)ctfs		tripartite motif containing 58							45.0	41.0	42.0					1																	248028102		2203	4300	6503	SO:0001589	frameshift_variant	25893					intracellular	zinc ion binding	g.chr1:248028102delG	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.612delG	1.37:g.248028102delG	ENSP00000355437:p.Leu204fs						p.L204fs	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	660	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	204					Q6B0H9	Frame_Shift_Del	DEL	ENST00000366481.3	37	c.612delG	CCDS1636.1																																																																																				0.627	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		25	48						25	48	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98340826	98340827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:98340826_98340827insC	ENST00000264972.5	+	3	542_543	c.327_328insC	c.(328-330)ccgfs	p.P110fs	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	110	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCCTCGAGCCGCAGCCGGG	0.713																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(325-330)gacgcafs		zeta-chain (TCR) associated protein kinase 70kDa																																				SO:0001589	frameshift_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340826_98340827insC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.329dupC	2.37:g.98340828_98340828dupC	ENSP00000264972:p.Pro110fs						p.A110fs	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			3	542_543	+			110			Interdomain A.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Frame_Shift_Ins	INS	ENST00000264972.5	37	c.327_328insC	CCDS33254.1																																																																																				0.713	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			12	15						12	15	---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111789238	111789238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr2:111789238delG	ENST00000389811.4	+	16	1630	c.1406delG	c.(1405-1407)tggfs	p.W469fs	ACOXL_ENST00000439055.1_Frame_Shift_Del_p.W439fs			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	469					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTCCATGCCTGGAACTCGTGT	0.463																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(1405-1407)tgfs		acyl-CoA oxidase-like							143.0	130.0	134.0					2																	111789238		2203	4300	6503	SO:0001589	frameshift_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111789238delG		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1406delG	2.37:g.111789238delG	ENSP00000374461:p.Trp469fs					ACOXL_ENST00000439055.1_Frame_Shift_Del_p.W439fs	p.W469fs			Q9NUZ1	ACOXL_HUMAN			16	1630	+			469					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Frame_Shift_Del	DEL	ENST00000389811.4	37	c.1406delG																																																																																					0.463	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		46	72						46	72	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38888292	38888293	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:38888292_38888293insT	ENST00000302328.3	-	26	5466_5467	c.5268_5269insA	c.(5266-5271)caaggtfs	p.G1757fs	SCN11A_ENST00000450244.1_Frame_Shift_Ins_p.G1757fs|SCN11A_ENST00000456224.3_Frame_Shift_Ins_p.G1719fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1757					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTttggtcaccttggtcaccct	0.49																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(5266-5271)cagtgafs		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)																																			SO:0001589	frameshift_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888292_38888293insT	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5269dupA	3.37:g.38888294_38888294dupT	ENSP00000307599:p.Gly1757fs					SCN11A_ENST00000456224.3_Frame_Shift_Ins_p.*1719fs|SCN11A_ENST00000302328.3_Frame_Shift_Ins_p.*1757fs	p.*1757fs			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5466_5467	-			1757					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Ins	INS	ENST00000302328.3	37	c.5268_5269insA	CCDS33737.1																																																																																				0.490	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		42	42						42	42	---	---	---	---
TAGLN3	29114	broad.mit.edu	37	3	111718280	111718280	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:111718280delG	ENST00000393917.2	+	2	563	c.11delG	c.(10-12)aggfs	p.R4fs	TAGLN3_ENST00000478951.1_Frame_Shift_Del_p.R4fs|TAGLN3_ENST00000273368.4_Frame_Shift_Del_p.R4fs|TAGLN3_ENST00000486460.1_5'Flank|TAGLN3_ENST00000455401.2_Frame_Shift_Del_p.R4fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	4					central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						ATGGCTAACAGGGGCCCGAGC	0.582																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(10-12)agfs		transgelin 3							47.0	46.0	46.0					3																	111718280		2203	4300	6503	SO:0001589	frameshift_variant	29114				central nervous system development|muscle organ development			g.chr3:111718280delG	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.11delG	3.37:g.111718280delG	ENSP00000377494:p.Arg4fs					TAGLN3_ENST00000478951.1_Frame_Shift_Del_p.R4fs|TAGLN3_ENST00000273368.4_Frame_Shift_Del_p.R4fs|TAGLN3_ENST00000455401.2_Frame_Shift_Del_p.R4fs	p.R4fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN			2	563	+			4					D3DN64|Q96A74	Frame_Shift_Del	DEL	ENST00000393917.2	37	c.11delG	CCDS33816.1																																																																																				0.582	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		36	38						36	38	---	---	---	---
MME	4311	broad.mit.edu	37	3	154861327	154861327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr3:154861327delG	ENST00000460393.1	+	13	1404	c.1284delG	c.(1282-1284)gtgfs	p.V428fs	MME_ENST00000462745.1_Frame_Shift_Del_p.V428fs|MME_ENST00000360490.2_Frame_Shift_Del_p.V428fs|MME_ENST00000492661.1_Frame_Shift_Del_p.V428fs|MME_ENST00000493237.1_Frame_Shift_Del_p.V428fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	428					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GGCTTTATGTGGAAGCAGCAT	0.423																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1282-1284)gtfs		membrane metallo-endopeptidase	Candoxatril(DB00616)						212.0	209.0	210.0					3																	154861327		2203	4300	6503	SO:0001589	frameshift_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154861327delG		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1284delG	3.37:g.154861327delG	ENSP00000418525:p.Val428fs					MME_ENST00000493237.1_Frame_Shift_Del_p.V428fs|MME_ENST00000360490.2_Frame_Shift_Del_p.V428fs|MME_ENST00000462745.1_Frame_Shift_Del_p.V428fs|MME_ENST00000492661.1_Frame_Shift_Del_p.V428fs	p.V428fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		13	1404	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	428					A8K6U6|D3DNJ9|Q3MIX4	Frame_Shift_Del	DEL	ENST00000460393.1	37	c.1284delG	CCDS3172.1																																																																																				0.423	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		50	160						50	160	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37848585	37848585	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:37848585delG	ENST00000381967.4	+	9	1141	c.1041delG	c.(1039-1041)ttgfs	p.L347fs	PGM2_ENST00000544359.1_Frame_Shift_Del_p.L208fs|PGM2_ENST00000537241.1_Frame_Shift_Del_p.L187fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	347					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GCAATGAGTTGGGGGCCCTCC	0.453																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1039-1041)ttfs		phosphoglucomutase 2							107.0	119.0	115.0					4																	37848585		2203	4300	6503	SO:0001589	frameshift_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848585delG	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1041delG	4.37:g.37848585delG	ENSP00000371393:p.Leu347fs					PGM2_ENST00000544359.1_Frame_Shift_Del_p.L208fs|PGM2_ENST00000537241.1_Frame_Shift_Del_p.L187fs	p.L347fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			9	1141	+			347					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Frame_Shift_Del	DEL	ENST00000381967.4	37	c.1041delG	CCDS3443.1																																																																																				0.453	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		41	118						41	118	---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42072566	42072566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr4:42072566delG	ENST00000264451.7	+	15	1456	c.1276delG	c.(1276-1278)ggtfs	p.G426fs		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	426					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGACAGCCTAGGTTCTTTGGG	0.408																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1276-1278)gtfs		solute carrier family 30 (zinc transporter), member 9							198.0	173.0	182.0					4																	42072566		2203	4300	6503	SO:0001589	frameshift_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42072566delG	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1276delG	4.37:g.42072566delG	ENSP00000264451:p.Gly426fs						p.G426fs	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			15	1456	+			426					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Frame_Shift_Del	DEL	ENST00000264451.7	37	c.1276delG	CCDS3465.1																																																																																				0.408	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			59	128						59	128	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140237982	140237982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:140237982delC	ENST00000307360.5	+	1	2349	c.2349delC	c.(2347-2349)gacfs	p.D783fs	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	783	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGATGTGGACGGGGAAGATC	0.522																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2347-2349)gafs									91.0	117.0	108.0					5																	140237982		1317	2288	3605	SO:0001589	frameshift_variant	56139							g.chr5:140237982delC	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2349delC	5.37:g.140237982delC	ENSP00000304234:p.Asp783fs					PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.D783fs	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2349	+								A1L493|O75280|Q9NRU2	Frame_Shift_Del	DEL	ENST00000307360.5	37	c.2349delC	CCDS54921.1																																																																																				0.522	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		11	17						11	17	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176700778	176700779	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr5:176700778_176700779delAT	ENST00000439151.2	+	17	5660_5661	c.5615_5616delAT	c.(5614-5616)catfs	p.H1872fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.H1769fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1872					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTATAAACATATAAAGGTGA	0.45			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5614-5616)cfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176700778_176700779delAT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5615_5616delAT	5.37:g.176700780_176700781delAT	ENSP00000395929:p.His1872fs	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.H1769fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.H1603fs	p.H1872fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	17	5660_5661	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1872					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.5615_5616delAT	CCDS4412.1																																																																																				0.450	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		40	15						40	15	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43306452	43306471	+	Frame_Shift_Del	DEL	GGCTTTCCTTATCCTGGTTA	GGCTTTCCTTATCCTGGTTA	-	rs200274879		TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:43306452_43306471delGGCTTTCCTTATCCTGGTTA	ENST00000361428.2	-	10	5342_5361	c.5265_5284delTAACCAGGATAAGGAAAGCC	c.(5263-5286)gttaaccaggataaggaaagccaafs	p.NQDKESQ1756fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1756					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGGAGCTCTTGGCTTTCCTTATCCTGGTTAACAGATTCTC	0.436																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5263-5286)gtaafs		zinc finger protein 318																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306452_43306471delGGCTTTCCTTATCCTGGTTA	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5265_5284delTAACCAGGATAAGGAAAGCC	6.37:g.43306452_43306471delGGCTTTCCTTATCCTGGTTA	ENSP00000354964:p.Asn1756fs					ZNF318_ENST00000318149.3_Intron	p.VNQDKESQ1755fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5342_5361	-			1755					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.5265_5284delTAACCAGGATAAGGAAAGCC	CCDS4895.2																																																																																				0.436	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		12	81						12	81	---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160908670	160908671	+	RNA	INS	-	-	T	rs386409145|rs386409144|rs371280055|rs5881361|rs374428705|rs397816309	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr6:160908670_160908671insT	ENST00000335388.5	-	0	508					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GATTTTAACTGTTTTTTTTTTA	0.356													|||unknown(HR)	3972	0.793131	0.7905	0.7651	5008	,	,		20739	0.881		0.7356	False		,,,				2504	0.7853					ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														80350							g.chr6:160908670_160908671insT	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160908680_160908680dupT								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	508	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	INS	ENST00000335388.5	37																																																																																						0.356	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		4	2						4	2	---	---	---	---
AC073842.19	0	broad.mit.edu	37	7	99737172	99737172	+	RNA	DEL	T	T	-	rs56301545|rs151048213|rs199740105	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr7:99737172delT	ENST00000376482.3	+	0	74																											gcgcATGGACTTTTTTTTTTT	0.423													|||unknown(HR)	2882	0.575479	0.5113	0.4697	5008	,	,		15965	0.6508		0.6004	False		,,,				2504	0.6339					ENST00000376482.3																			0																																																			0							g.chr7:99737172delT																													7.37:g.99737172delT														0	74	+									RNA	DEL	ENST00000376482.3	37																																																																																						0.423	AC073842.19-001	KNOWN	basic	antisense	antisense	OTTHUMT00000337349.1			3	2						3	2	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39521390	39521391	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr8:39521390_39521391insT	ENST00000265707.5	+	13	1352_1353	c.1307_1308insT	c.(1306-1311)tgttgtfs	p.C437fs	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Frame_Shift_Ins_p.C413fs	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	437	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCTGGACCATGTTGTACATCAA	0.322																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1306-1308)ttgfs		ADAM metallopeptidase domain 18																																				SO:0001589	frameshift_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39521390_39521391insT	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1309dupT	8.37:g.39521392_39521392dupT	ENSP00000265707:p.Cys437fs					ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Frame_Shift_Ins_p.L412fs	p.L436fs	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		13	1352_1353	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	436			Disintegrin.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Frame_Shift_Ins	INS	ENST00000265707.5	37	c.1307_1308insT	CCDS6113.1																																																																																				0.322	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		15	38						15	38	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139402413	139402413	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr9:139402413delG	ENST00000277541.6	-	21	3579	c.3504delC	c.(3502-3504)tccfs	p.S1168fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1168	EGF-like 30. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCACCTTGCAGGAGTAGCCGC	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3502-3504)tcfs		notch 1							42.0	49.0	47.0					9																	139402413		2015	4158	6173	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402413delG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3504delC	9.37:g.139402413delG	ENSP00000277541:p.Ser1168fs	HNSCC(8;0.001)					p.S1168fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	21	3579	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1168			EGF-like 30.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.3504delC	CCDS43905.1																																																																																				0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		25	40						25	40	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17373447	17373448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:17373447_17373448insC	ENST00000377602.4	-	5	555_556	c.481_482insG	c.(481-483)gaafs	p.E161fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	161					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AATTGGGATTTCTTTTTTGCTT	0.366																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(481-483)aatfs		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6																																				SO:0001589	frameshift_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17373447_17373448insC		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.482dupG	10.37:g.17373448_17373448dupC	ENSP00000366827:p.Glu161fs						p.N161fs	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			5	555_556	-			161					B0YJ97|B9EH72|Q5VZH4	Frame_Shift_Ins	INS	ENST00000377602.4	37	c.481_482insG	CCDS31158.1																																																																																				0.366	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		32	87						32	87	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	116887418	116887418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr10:116887418delG	ENST00000355044.3	+	4	679	c.553delG	c.(553-555)ggcfs	p.G185fs	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Frame_Shift_Del_p.G185fs	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	185	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)		TACTACATCTGGCTATGCACT	0.313																																						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.(553-555)gcfs		attractin-like 1							146.0	130.0	136.0					10																	116887418		2203	4299	6502	SO:0001589	frameshift_variant	26033					integral to membrane	sugar binding	g.chr10:116887418delG	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.553delG	10.37:g.116887418delG	ENSP00000347152:p.Gly185fs					ATRNL1_ENST00000527407.1_Frame_Shift_Del_p.G185fs|ATRNL1_ENST00000529665.1_3'UTR	p.G185fs	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)	4	679	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	185			CUB.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	ENST00000355044.3	37	c.553delG	CCDS7592.1																																																																																				0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		20	49						20	49	---	---	---	---
KLRAP1	10748	broad.mit.edu	37	12	10750542	10750542	+	RNA	DEL	C	C	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:10750542delC	ENST00000510134.2	-	0	315									killer cell lectin-like receptor subfamily A pseudogene 1											breast(1)|large_intestine(1)|lung(1)	3						TTTCTTATCACCAGCCAAGAA	0.318																																						ENST00000510134.2																			0				breast(1)|large_intestine(1)|lung(1)	3																																														10748							g.chr12:10750542delC	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10750542delC														0	315	-									RNA	DEL	ENST00000510134.2	37																																																																																						0.318	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		16	29						16	29	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21205160	21205160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr12:21205160delG	ENST00000421593.2	+	9	1321	c.1321delG	c.(1321-1323)ggafs	p.G441fs	RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.G488fs|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Frame_Shift_Del_p.G488fs	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	441	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGTCTAGCAGGATGCAAATC	0.358																																						ENST00000381541.3																			0											c.(1462-1464)gafs									151.0	157.0	155.0					12																	21205160		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr12:21205160delG	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1321delG	12.37:g.21205160delG	ENSP00000394168:p.Gly441fs					SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.G488fs|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Frame_Shift_Del_p.G441fs|LST3_ENST00000540229.1_Intron	p.G488fs							10	1527	+								Q71QF0	Frame_Shift_Del	DEL	ENST00000421593.2	37	c.1462delG	CCDS44843.1																																																																																				0.358	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		33	98						33	98	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25468643	25468644	+	RNA	INS	-	-	TT			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:25468643_25468644insTT	ENST00000424208.1	+	0	6332				SNORD115-30_ENST00000364117.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-28_ENST00000363931.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGCTTGGTGTTTGCGCTCCT	0.614																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25468643_25468644insTT			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.25468644_25468645dupTT								NR_003343.1						0	885	+									RNA	INS	ENST00000424208.1	37																																																																																						0.614	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			15	9						15	9	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25490791	25490791	+	RNA	DEL	C	C	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:25490791delC	ENST00000453082.2	+	0	2719				SNORD115-42_ENST00000364273.1_RNA|SNORD115-40_ENST00000606510.1_RNA|SNORD115-41_ENST00000363608.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GACCTGGAGGCCCTGAAGGGC	0.582																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25490791delC			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.25490791delC								NR_003343.1						0	2719	+									RNA	DEL	ENST00000453082.2	37																																																																																						0.582	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			64	43						64	43	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100331893	100331894	+	RNA	INS	-	-	C			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr15:100331893_100331894insC	ENST00000341853.1	-	0	2297_2298				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TCCTCTGTGGTCCCTCCAAGAC	0.584																																						ENST00000341853.1																			0																																																			196968							g.chr15:100331893_100331894insC	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331896_100331896dupC								NR_003260.1						0	2297_2298	-								Q3ZCN3	RNA	INS	ENST00000341853.1	37																																																																																						0.584	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		15	24						15	24	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			100271836							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			2	4						2	4	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			653390							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			8	8						8	8	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)del		SR-related CTD-associated factor 1				45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del						p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645			Arg-rich.|Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																				0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		2	4						2	4	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36851953	36851953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr20:36851953delG	ENST00000279024.4	-	9	2526	c.2255delC	c.(2254-2256)cctfs	p.P752fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	752										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CATCCCCCCAGGGGGGTCGGC	0.617																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2254-2256)ctfs		KIAA1755							38.0	36.0	37.0					20																	36851953		2203	4300	6503	SO:0001589	frameshift_variant	85449							g.chr20:36851953delG	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2255delC	20.37:g.36851953delG	ENSP00000279024:p.Pro752fs						p.P752fs	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			9	2526	-		Myeloproliferative disorder(115;0.00874)	752					Q9C0A8	Frame_Shift_Del	DEL	ENST00000279024.4	37	c.2255delC	CCDS33467.1																																																																																				0.617	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		17	30						17	30	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19184057	19184057	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:19184057delC	ENST00000263200.10	-	25	4056	c.3984delG	c.(3982-3984)aagfs	p.K1328fs	CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.K1328fs|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.K1328fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1328	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTTCTGTGGCTTGAATTTGG	0.572			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3982-3984)aafs		clathrin, heavy chain-like 1							42.0	46.0	45.0					22																	19184057		2057	4208	6265	SO:0001589	frameshift_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19184057delC		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3984delG	22.37:g.19184057delC	ENSP00000445677:p.Lys1328fs					CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.K1328fs|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.K1328fs	p.K1328fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			25	4056	-	Colorectal(54;0.0993)		1328			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Frame_Shift_Del	DEL	ENST00000263200.10	37	c.3984delG	CCDS46662.1																																																																																				0.572	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		11	24						11	24	---	---	---	---
TMEM211	255349	broad.mit.edu	37	22	25331445	25331445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:25331445delC	ENST00000423535.1	-	3	457	c.458delG	c.(457-459)ggtfs	p.G153fs	TMEM211_ENST00000407886.1_Frame_Shift_Del_p.G82fs|TMEM211_ENST00000382744.1_Frame_Shift_Del_p.G82fs			Q6ICI0	TM211_HUMAN	transmembrane protein 211	153						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGTCATGTAACCCCAACCCAG	0.562																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(244-246)gtfs		transmembrane protein 211							92.0	79.0	84.0					22																	25331445		2203	4300	6503	SO:0001589	frameshift_variant	255349					integral to membrane		g.chr22:25331445delC		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.458delG	22.37:g.25331445delC	ENSP00000387813:p.Gly153fs					TMEM211_ENST00000423535.1_Frame_Shift_Del_p.G153fs|TMEM211_ENST00000382744.1_Frame_Shift_Del_p.G82fs	p.G82fs			Q6ICI0	TM211_HUMAN			4	497	-			153						Frame_Shift_Del	DEL	ENST00000423535.1	37	c.245delG																																																																																					0.562	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		14	50						14	50	---	---	---	---
EWSR1	2130	broad.mit.edu	37	22	29674145	29674146	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chr22:29674145_29674146insT	ENST00000397938.2	+	5	672_673	c.353_354insT	c.(352-357)tatggcfs	p.G119fs	EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.G119fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.G119fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.G119fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.G125fs|EWSR1_ENST00000333395.6_Frame_Shift_Ins_p.G119fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.G119fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	119	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGTCTGCATATGGCACTCAGC	0.554			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(352-354)tggfs		EWS RNA-binding protein 1																																				SO:0001589	frameshift_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29674145_29674146insT		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.354dupT	22.37:g.29674146_29674146dupT	ENSP00000381031:p.Gly119fs					EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000333395.6_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.W124fs	p.W118fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			5	672_673	+			118			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Ins	INS	ENST00000397938.2	37	c.353_354insT	CCDS13851.1																																																																																				0.554	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		9	33						9	33	---	---	---	---
ARAF	369	broad.mit.edu	37	X	47426094	47426094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A8Z8-01A-11D-A391-08	TCGA-QK-A8Z8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dac53b2-6d3e-4740-bd93-5248f93a0643	1e058e03-3c90-4fa7-b8d3-57358d37e736	g.chrX:47426094delC	ENST00000377045.4	+	7	808	c.614delC	c.(613-615)gccfs	p.A205fs	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	205					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.L207fs*85(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCAGCCAATGCCCCCCTACAG	0.632																																						ENST00000377045.4																			1	Deletion - Frameshift(1)	p.L207fs*85(1)	large_intestine(1)	biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(613-615)gcfs		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						49.0	39.0	43.0					X																	47426094		2203	4300	6503	SO:0001589	frameshift_variant	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47426094delC	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.614delC	X.37:g.47426094delC	ENSP00000366244:p.Ala205fs					ARAF_ENST00000290277.6_Intron	p.A205fs	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			7	808	+			205					P07557|Q5H9B2|Q5H9B3	Frame_Shift_Del	DEL	ENST00000377045.4	37	c.614delC	CCDS35232.1																																																																																				0.632	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			8	20						8	20	---	---	---	---
