#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
TTN	7273	broad.mit.edu	37	2	179444088	179444088	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179444088C>T	ENST00000591111.1	-	270	62970	c.62746G>A	c.(62746-62748)Gat>Aat	p.D20916N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13684N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22557N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13617N|TTN_ENST00000460472.2_Missense_Mutation_p.D13492N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19989N|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20916	Ig-like 112.				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)			TAGCACAAATCAGGTAGACCC	0.413																																						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.(67669-67671)Gat>Aat		titin							47.0	45.0	46.0					2																	179444088		1856	4091	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444088C>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.62746G>A	2.37:g.179444088C>T	ENSP00000465570:p.Asp20916Asn					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20916N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13492N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13684N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13617N|TTN_ENST00000342992.6_Missense_Mutation_p.D19989N	p.D22557N	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)		320	67893	-			20916			Fibronectin type-III 63.		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.67669G>A		.	.	.	.	.	.	.	.	.	.	C	16.23	3.065225	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	0.0;0.2;0.19;0.16	5.47	5.47	0.80525	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55545	0.1927	N	0.04203	-0.255	0.58432	D	0.999997	D;D;D;D	0.59767	0.986;0.986;0.986;0.986	P;P;P;P	0.53266	0.722;0.722;0.722;0.722	T	0.67604	-0.5628	9	0.87932	D	0	.	19.6736	0.95921	0.0:1.0:0.0:0.0	.	13492;13617;13684;20916	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19989;13492;13684;13617;13490	ENSP00000343764:D19989N;ENSP00000434586:D13492N;ENSP00000340554:D13684N;ENSP00000352154:D13617N	ENSP00000340554:D13684N	D	-	1	0	TTN	179152334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.786000	0.62425	2.723000	0.93209	0.655000	0.94253	GAT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	57	0	0	0	1	0	5	57				
PARP8	79668	broad.mit.edu	37	5	50091226	50091226	+	Missense_Mutation	SNP	C	C	G	rs570195240	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:50091226C>G	ENST00000281631.5	+	12	1561	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	PARP8_ENST00000505554.1_Missense_Mutation_p.S447C|PARP8_ENST00000514067.2_Missense_Mutation_p.S468C|PARP8_ENST00000514342.2_Missense_Mutation_p.S221C|PARP8_ENST00000505697.2_Missense_Mutation_p.S468C|PARP8_ENST00000503750.2_Missense_Mutation_p.S468C|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	468	Poly-Ser.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTAACACCATCTTCATCTTCA	0.408																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1402-1404)tCt>tGt		poly (ADP-ribose) polymerase family, member 8							59.0	61.0	60.0					5																	50091226		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091226C>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1403C>G	5.37:g.50091226C>G	ENSP00000281631:p.Ser468Cys					PARP8_ENST00000503750.2_Missense_Mutation_p.S468C|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.S447C|PARP8_ENST00000514342.2_Missense_Mutation_p.S221C|PARP8_ENST00000505697.2_Missense_Mutation_p.S468C|PARP8_ENST00000514067.2_Missense_Mutation_p.S468C	p.S468C	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1561	+		Lung NSC(810;0.0305)|Breast(144;0.222)	468			Poly-Ser.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1403C>G	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349287	0.61183	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	4.89	4.89	0.63831	.	0.392881	0.26251	N	0.025441	T	0.53367	0.1792	L	0.29908	0.895	0.45139	D	0.99815	P;P;P	0.45348	0.856;0.514;0.856	B;P;B	0.46144	0.319;0.505;0.319	T	0.50668	-0.8801	8	.	.	.	-5.4294	18.4021	0.90520	0.0:1.0:0.0:0.0	.	360;468;468	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	C	468;468;221;468;468;447;221;221	.	.	S	+	2	0	PARP8	50126983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.913000	0.69957	2.380000	0.81148	0.655000	0.94253	TCT		0.408	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		6	70	0	0	0	1	0	6	70				
TLK1	9874	broad.mit.edu	37	2	171902835	171902835	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:171902835C>T	ENST00000431350.2	-	11	1422	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TLK1_ENST00000521943.1_Missense_Mutation_p.E292K|TLK1_ENST00000434911.2_Missense_Mutation_p.E244K|TLK1_ENST00000442919.2_Missense_Mutation_p.E292K|TLK1_ENST00000360843.3_Missense_Mutation_p.E361K			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	340					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTTGCCTTTCAATATCTTCC	0.378																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(874-876)Gaa>Aaa		tousled-like kinase 1							193.0	174.0	181.0					2																	171902835		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171902835C>T	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1018G>A	2.37:g.171902835C>T	ENSP00000411099:p.Glu340Lys					TLK1_ENST00000360843.3_Missense_Mutation_p.E361K|TLK1_ENST00000521943.1_Missense_Mutation_p.E292K|TLK1_ENST00000434911.2_Missense_Mutation_p.E244K|TLK1_ENST00000431350.2_Missense_Mutation_p.E340K	p.E292K	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			11	1489	-			340					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.874G>A	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511171	0.96386	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.64618	-0.08;-0.11;-0.11;-0.08;-0.11	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.85197	2.74	0.80722	D	1	P;D;D	0.71674	0.944;0.967;0.998	P;D;D	0.81914	0.829;0.917;0.995	D	0.84590	0.0666	10	0.72032	D	0.01	-6.7518	19.3879	0.94565	0.0:1.0:0.0:0.0	.	244;361;340	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	K	292;340;361;292;244	ENSP00000402165:E292K;ENSP00000411099:E340K;ENSP00000354089:E361K;ENSP00000428113:E292K;ENSP00000409222:E244K	ENSP00000354089:E361K	E	-	1	0	TLK1	171611081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.652000	0.90054	0.591000	0.81541	GAA		0.378	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		7	115	0	0	0	1	0	7	115				
FRMD5	84978	broad.mit.edu	37	15	44181013	44181013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:44181013C>G	ENST00000417257.1	-	9	962	c.786G>C	c.(784-786)caG>caC	p.Q262H	FRMD5_ENST00000402883.1_Missense_Mutation_p.Q262H|FRMD5_ENST00000484674.1_Intron	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	262	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCACCTCTTTCTGACTTACGT	0.502																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(784-786)caG>caC		FERM domain containing 5							113.0	104.0	107.0					15																	44181013		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44181013C>G	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.786G>C	15.37:g.44181013C>G	ENSP00000403067:p.Gln262His					FRMD5_ENST00000402883.1_Missense_Mutation_p.Q262H|FRMD5_ENST00000484674.1_Intron	p.Q262H	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	9	962	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	262			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.786G>C	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494545	0.44352	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.82167	-1.58;-1.58;-1.58	5.17	5.17	0.71159	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.185117	0.48286	D	0.000181	T	0.75671	0.3881	N	0.22421	0.69	0.80722	D	1	B;B	0.18461	0.023;0.028	B;B	0.19666	0.015;0.026	T	0.72408	-0.4303	10	0.66056	D	0.02	.	17.4251	0.87525	0.0:1.0:0.0:0.0	.	247;262	Q7Z6J6-2;Q7Z6J6	.;FRMD5_HUMAN	H	262;262;228	ENSP00000403067:Q262H;ENSP00000384142:Q262H;ENSP00000399684:Q228H	ENSP00000384142:Q262H	Q	-	3	2	FRMD5	41968305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.524000	0.67105	2.693000	0.91896	0.650000	0.86243	CAG		0.502	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		17	105	0	0	0	1	0	17	105				
RFX7	64864	broad.mit.edu	37	15	56387730	56387730	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:56387730C>T	ENST00000559447.2	-	9	2176	c.1905G>A	c.(1903-1905)ttG>ttA	p.L635L	RFX7_ENST00000317318.6_Silent_p.L732L|RFX7_ENST00000423270.1_Silent_p.L732L|RFX7_ENST00000422057.1_Silent_p.L635L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	635					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAGGAATTCAAGGGTTGAT	0.413																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2194-2196)ttG>ttA		regulatory factor X, 7							103.0	95.0	97.0					15																	56387730		1933	4132	6065	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387730C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1905G>A	15.37:g.56387730C>T						RFX7_ENST00000317318.6_Silent_p.L732L|RFX7_ENST00000559447.2_Silent_p.L635L|RFX7_ENST00000422057.1_Silent_p.L635L	p.L732L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2195	-			635					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.2196G>A																																																																																					0.413	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		4	57	0	0	0	1	0	4	57				
TMC5	79838	broad.mit.edu	37	16	19501762	19501762	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:19501762C>T	ENST00000396229.2	+	18	3368	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Silent_p.L821L|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Silent_p.L873L|TMC5_ENST00000219821.5_Silent_p.L627L|TMC5_ENST00000561503.1_Silent_p.L514L|TMC5_ENST00000564959.1_Silent_p.L556L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	873					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTGCCTCTCTTCATTCACT	0.483																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2617-2619)ctC>ctT		transmembrane channel-like 5							255.0	216.0	229.0					16																	19501762		2197	4300	6497	SO:0001819	synonymous_variant	79838					integral to membrane		g.chr16:19501762C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2619C>T	16.37:g.19501762C>T						TMC5_ENST00000564959.1_Silent_p.L556L|TMC5_ENST00000561503.1_Silent_p.L514L|TMC5_ENST00000542583.2_Silent_p.L873L|TMC5_ENST00000541464.1_Silent_p.L821L|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Silent_p.L627L	p.L873L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			18	3368	+			873					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	c.2619C>T	CCDS45431.1																																																																																				0.483	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		4	195	0	0	0	1	0	4	195				
KIT	3815	broad.mit.edu	37	4	55603419	55603419	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:55603419G>A	ENST00000288135.5	+	20	2872	c.2775G>A	c.(2773-2775)gaG>gaA	p.E925E		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	925	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)	AGCTAATTGAGAAGCAGATTT	0.468		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.(2773-2775)gaG>gaA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						146.0	131.0	136.0					4																	55603419		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:55603419G>A	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.2775G>A	4.37:g.55603419G>A							p.E925E	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)	20	2872	+	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)		925			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.2775G>A	CCDS3496.1																																																																																				0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			4	105	0	0	0	1	0	4	105				
GAB4	128954	broad.mit.edu	37	22	17472947	17472947	+	Silent	SNP	G	G	A	rs556110776		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:17472947G>A	ENST00000400588.1	-	2	401	c.294C>T	c.(292-294)ctC>ctT	p.L98L	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGCTCACAGAGGTTCAGGT	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22394	0.0		0.0	False		,,,				2504	0.0					ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(292-294)ctC>ctT		GRB2-associated binding protein family, member 4							218.0	229.0	225.0					22																	17472947		2196	4299	6495	SO:0001819	synonymous_variant	128954							g.chr22:17472947G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.294C>T	22.37:g.17472947G>A						GAB4_ENST00000523144.1_5'UTR	p.L98L	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			2	401	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	98			PH.			Silent	SNP	ENST00000400588.1	37	c.294C>T	CCDS42976.1																																																																																				0.488	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		13	343	0	0	0	1	0	13	343				
COMTD1	118881	broad.mit.edu	37	10	76994481	76994481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:76994481C>T	ENST00000372538.3	-	6	605	c.523G>A	c.(523-525)Gag>Aag	p.E175K	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	175						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GTGCCGGCCTCGCCCGCCGCC	0.746																																					Colon(106;1192 2596 47278)	ENST00000372538.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(523-525)Gag>Aag		catechol-O-methyltransferase domain containing 1							7.0	7.0	7.0					10																	76994481		2111	4168	6279	SO:0001583	missense	118881					integral to membrane	O-methyltransferase activity	g.chr10:76994481C>T		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.523G>A	10.37:g.76994481C>T	ENSP00000361616:p.Glu175Lys					COMTD1_ENST00000460899.1_5'UTR	p.E175K	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN			6	605	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		175					Q8TE79	Missense_Mutation	SNP	ENST00000372538.3	37	c.523G>A	CCDS7349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.621147|4.621147	0.87460|0.87460	.|.	.|.	ENSG00000165644|ENSG00000165644	ENST00000372538|ENST00000536650	T|.	0.71579|.	-0.58|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.124707|.	0.53938|.	D|.	0.000044|.	T|T	0.62624|0.62624	0.2443|0.2443	L|L	0.56124|0.56124	1.755|1.755	0.53688|0.53688	D|D	0.999978|0.999978	P|.	0.39759|.	0.687|.	B|.	0.29663|.	0.105|.	T|T	0.58399|0.58399	-0.7643|-0.7643	10|6	0.38643|0.27082	T|T	0.18|0.32	-9.8242|-9.8242	13.8282|13.8282	0.63363|0.63363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	175|.	Q86VU5|.	CMTD1_HUMAN|.	K|Q	175|163	ENSP00000361616:E175K|.	ENSP00000361616:E175K|ENSP00000444168:R163Q	E|R	-|-	1|2	0|0	COMTD1|COMTD1	76664487|76664487	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	2.024000|2.024000	0.41049|0.41049	2.390000|2.390000	0.81377|0.81377	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.746	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1	NM_144589		5	12	0	0	0	1	0	5	12				
DNMT1	1786	broad.mit.edu	37	19	10257139	10257139	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:10257139C>G	ENST00000340748.4	-	27	2969	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.E912Q|DNMT1_ENST00000359526.4_Missense_Mutation_p.E928Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	912					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCGAGCTGCTCCAGGACCCTG	0.562																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2734-2736)Gag>Cag		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						67.0	62.0	64.0					19																	10257139		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10257139C>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2734G>C	19.37:g.10257139C>G	ENSP00000345739:p.Glu912Gln					DNMT1_ENST00000359526.4_Missense_Mutation_p.E928Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.E912Q	p.E912Q			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		27	2969	-			912					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2734G>C	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095278	0.76870	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.25085	1.82;1.82;1.82	5.73	5.73	0.89815	.	0.126503	0.56097	D	0.000036	T	0.47116	0.1428	M	0.70275	2.135	0.48901	D	0.999724	D;D;D	0.62365	0.991;0.991;0.984	P;P;P	0.62813	0.907;0.907;0.811	T	0.37407	-0.9707	10	0.51188	T	0.08	.	13.6154	0.62105	0.1552:0.8447:0.0:0.0	.	912;928;912	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	Q	928;912;912;780	ENSP00000352516:E928Q;ENSP00000440457:E912Q;ENSP00000345739:E912Q	ENSP00000345739:E912Q	E	-	1	0	DNMT1	10118139	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.653000	0.61462	2.700000	0.92200	0.655000	0.94253	GAG		0.562	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	101	0	0	0	1	0	5	101				
PIP4K2C	79837	broad.mit.edu	37	12	57985144	57985144	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:57985144C>G	ENST00000354947.5	+	1	88	c.72C>G	c.(70-72)ttC>ttG	p.F24L	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.F24L|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.F24L|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.F24L			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	24						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTTTCGGCTTCGCCTCCAAGA	0.652																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(70-72)ttC>ttG		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							75.0	82.0	79.0					12																	57985144		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57985144C>G	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.72C>G	12.37:g.57985144C>G	ENSP00000347032:p.Phe24Leu					PIP4K2C_ENST00000540759.2_Missense_Mutation_p.F24L|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.F24L|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.F24L	p.F24L			Q8TBX8	PI42C_HUMAN			1	88	+	Melanoma(17;0.122)		24					B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.72C>G	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363821	0.24684	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T;T	0.43294	1.9;1.9;0.95;1.9;1.9	3.95	2.04	0.26737	.	0.470474	0.22657	N	0.057249	T	0.21801	0.0525	N	0.08118	0	0.24550	N	0.99403	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.15694	-1.0428	10	0.45353	T	0.12	-13.2951	9.7871	0.40684	0.0:0.7666:0.1426:0.0908	.	24;24;24	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	L	24	ENSP00000412035:F24L;ENSP00000439878:F24L;ENSP00000450197:F24L;ENSP00000447390:F24L;ENSP00000347032:F24L	ENSP00000347032:F24L	F	+	3	2	PIP4K2C	56271411	0.990000	0.36364	0.998000	0.56505	0.251000	0.25915	1.046000	0.30354	0.093000	0.17368	-1.786000	0.00637	TTC		0.652	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		5	154	0	0	0	1	0	5	154				
CDC42BPG	55561	broad.mit.edu	37	11	64602888	64602888	+	Silent	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:64602888C>G	ENST00000342711.5	-	16	1883	c.1884G>C	c.(1882-1884)ccG>ccC	p.P628P	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCTTACCACTCGGCCTGGGGA	0.682																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1882-1884)ccG>ccC		CDC42 binding protein kinase gamma (DMPK-like)							149.0	159.0	156.0					11																	64602888		2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602888C>G	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1884G>C	11.37:g.64602888C>G							p.P628P	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			16	1883	-			628	P -> R (in Ref. 1; AAT67172).					Silent	SNP	ENST00000342711.5	37	c.1884G>C	CCDS31601.1																																																																																				0.682	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		19	225	0	0	0	1	0	19	225				
ZBTB40	9923	broad.mit.edu	37	1	22837748	22837748	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:22837748C>T	ENST00000375647.4	+	10	2117	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S525L|ZBTB40_ENST00000404138.1_Missense_Mutation_p.S637L	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	637					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATGGAAAAATCAGTCCCGGCC	0.502																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1909-1911)tCa>tTa		zinc finger and BTB domain containing 40							94.0	97.0	96.0					1																	22837748		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22837748C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1910C>T	1.37:g.22837748C>T	ENSP00000364798:p.Ser637Leu					ZBTB40_ENST00000374651.4_Missense_Mutation_p.S525L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S637L	p.S637L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	11	2421	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	637					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1910C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567734	0.28003	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	D;D;D	0.82081	-1.57;-1.57;-1.57	5.97	5.06	0.68205	.	0.127459	0.36034	N	0.002833	T	0.75517	0.3860	L	0.32530	0.975	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.12156	0.007;0.003	T	0.68530	-0.5384	10	0.87932	D	0	-1.8913	12.2417	0.54546	0.0:0.9211:0.0:0.0789	.	525;637	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	L	637;637;525	ENSP00000384527:S637L;ENSP00000364798:S637L;ENSP00000363782:S525L	ENSP00000363782:S525L	S	+	2	0	ZBTB40	22710335	0.966000	0.33281	0.002000	0.10522	0.025000	0.11179	3.143000	0.50608	1.537000	0.49254	0.655000	0.94253	TCA		0.502	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		5	111	0	0	0	1	0	5	111				
GBP5	115362	broad.mit.edu	37	1	89730405	89730405	+	Missense_Mutation	SNP	G	G	C	rs371973500		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:89730405G>C	ENST00000370459.3	-	7	1240	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.F371L|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	371						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTACATCCTTGAAAGAGTTTT	0.453																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1111-1113)ttC>ttG		guanylate binding protein 5		G	LEU/PHE,LEU/PHE	0,4406		0,0,2203	87.0	89.0	88.0		1113,1113	1.4	1.0	1		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GBP5	NM_001134486.2,NM_052942.3	22,22	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	371/587,371/587	89730405	1,13005	2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730405G>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1113C>G	1.37:g.89730405G>C	ENSP00000359488:p.Phe371Leu					GBP5_ENST00000370459.3_Missense_Mutation_p.F371L|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	p.F371L	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1649	-			371					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1113C>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073026	0.55646	0.0	1.16E-4	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.62232	0.04;0.04;0.04	4.96	1.43	0.22495	Guanylate-binding protein, C-terminal (3);	0.051826	0.85682	D	0.000000	T	0.71643	0.3364	M	0.91249	3.19	0.30897	N	0.729713	D	0.89917	1.0	D	0.97110	1.0	T	0.68269	-0.5453	10	0.87932	D	0	-18.0953	7.5417	0.27742	0.3595:0.0:0.6405:0.0	.	371	Q96PP8	GBP5_HUMAN	L	371	ENSP00000340396:F371L;ENSP00000359488:F371L;ENSP00000403010:F371L	ENSP00000340396:F371L	F	-	3	2	GBP5	89502993	1.000000	0.71417	0.995000	0.50966	0.208000	0.24298	1.178000	0.31981	0.173000	0.19788	0.556000	0.70494	TTC		0.453	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		4	88	0	0	0	1	0	4	88				
PI4KA	5297	broad.mit.edu	37	22	21104247	21104247	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:21104247C>T	ENST00000572273.1	-	28	3245	c.3015G>A	c.(3013-3015)atG>atA	p.M1005I	PI4KA_ENST00000255882.6_Missense_Mutation_p.M1063I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1005					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTGGAGGATCATCCCACAGC	0.527																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(3187-3189)atG>atA		phosphatidylinositol 4-kinase, catalytic, alpha							109.0	88.0	95.0					22																	21104247		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21104247C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3015G>A	22.37:g.21104247C>T	ENSP00000458238:p.Met1005Ile					PI4KA_ENST00000572273.1_Missense_Mutation_p.M1005I	p.M1063I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		28	3275	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1005					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3189G>A		.	.	.	.	.	.	.	.	.	.	C	15.71	2.915054	0.52546	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.98	4.98	0.66077	.	0.088102	0.85682	D	0.000000	T	0.57829	0.2080	L	0.36672	1.1	0.80722	D	1	B	0.20671	0.047	B	0.30179	0.112	T	0.54437	-0.8294	9	0.40728	T	0.16	-37.1379	18.4372	0.90650	0.0:1.0:0.0:0.0	.	1005	P42356	PI4KA_HUMAN	I	1005	.	ENSP00000255882:M1005I	M	-	3	0	PI4KA	19434247	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.755000	0.55197	2.600000	0.87896	0.655000	0.94253	ATG		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		3	30	0	0	0	1	0	3	30				
GABRA5	2558	broad.mit.edu	37	15	27184489	27184489	+	Intron	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:27184489G>A	ENST00000335625.5	+	9	1612				GABRA5_ENST00000355395.5_Intron|GABRB3_ENST00000541819.2_Missense_Mutation_p.S32L|GABRA5_ENST00000400081.3_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CATCGCCAATGAAATGCCCCC	0.577																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(94-96)tCa>tTa		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						125.0	106.0	112.0					15																	27184489		876	1991	2867	SO:0001627	intron_variant	2562				synaptic transmission	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.chr15:27184489G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-583G>A	15.37:g.27184489G>A						GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron	p.S32L			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	1	197	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	0		G -> R (in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type).			A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.95C>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602156	0.28534	.	.	ENSG00000166206	ENST00000541819	D	0.82255	-1.59	4.89	3.02	0.34903	.	2.781760	0.01049	N	0.004438	T	0.77658	0.4163	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61262	-0.7098	9	0.87932	D	0	.	6.8119	0.23809	0.3703:0.0:0.6297:0.0	.	32	F5H7N0	.	L	32	ENSP00000442408:S32L	ENSP00000442408:S32L	S	-	2	0	GABRB3	24767235	0.189000	0.23263	0.000000	0.03702	0.004000	0.04260	1.324000	0.33712	0.491000	0.27793	-0.224000	0.12420	TCA		0.577	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			7	93	0	0	0	1	0	7	93				
SLC4A4	8671	broad.mit.edu	37	4	72215774	72215774	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:72215774C>T	ENST00000264485.5	+	5	652	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	SLC4A4_ENST00000351898.6_Missense_Mutation_p.L179F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.L135F|SLC4A4_ENST00000512686.1_Missense_Mutation_p.L135F|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L179F	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	179					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGCTTCTTCTCTCCCACAGTT	0.453																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(403-405)Ctc>Ttc		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							169.0	157.0	161.0					4																	72215774		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72215774C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.535C>T	4.37:g.72215774C>T	ENSP00000264485:p.Leu179Phe					SLC4A4_ENST00000264485.5_Missense_Mutation_p.L179F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L179F|SLC4A4_ENST00000512686.1_Missense_Mutation_p.L135F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L179F	p.L135F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		2	599	+			179					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.403C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542404	0.85917	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.64	5.64	0.86602	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	L	0.60904	1.88	0.80722	D	1	D;D;D;D;P;D	0.89917	0.999;0.957;1.0;0.999;0.576;0.999	D;P;D;D;P;D	0.91635	0.995;0.723;0.991;0.999;0.734;0.995	D	0.86558	0.1839	10	0.54805	T	0.06	.	19.7044	0.96067	0.0:1.0:0.0:0.0	.	179;179;135;135;159;179	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	F	179;179;179;135;135	ENSP00000264485:L179F;ENSP00000393557:L179F;ENSP00000307349:L179F;ENSP00000422400:L135F;ENSP00000344272:L135F	ENSP00000264485:L179F	L	+	1	0	SLC4A4	72434638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.644000	0.89710	0.557000	0.71058	CTC		0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		21	155	0	0	0	1	0	21	155				
ATM	472	broad.mit.edu	37	11	108235920	108235920	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:108235920G>A	ENST00000452508.2	+	63	9151	c.8962G>A	c.(8962-8964)Gac>Aac	p.D2988N	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.D2988N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2988					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAATGCAGATGACCAAGAATG	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8962-8964)Gac>Aac	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							132.0	124.0	127.0					11																	108235920		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108235920G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8962G>A	11.37:g.108235920G>A	ENSP00000388058:p.Asp2988Asn	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.D2988N	p.D2988N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	62	9347	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2988					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8962G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626567	0.46840	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01422	4.91;4.91	5.52	3.65	0.41850	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.285058	0.36591	N	0.002508	T	0.01976	0.0062	L	0.54323	1.7	0.80722	D	1	B	0.22146	0.065	B	0.17098	0.017	T	0.54146	-0.8337	10	0.27082	T	0.32	.	10.7915	0.46436	0.0696:0.2617:0.6687:0.0	.	2988	Q13315	ATM_HUMAN	N	2988	ENSP00000278616:D2988N;ENSP00000388058:D2988N	ENSP00000278616:D2988N	D	+	1	0	ATM	107741130	1.000000	0.71417	0.950000	0.38849	0.840000	0.47671	3.794000	0.55492	0.698000	0.31739	-0.142000	0.14014	GAC		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		8	113	0	0	0	1	0	8	113				
C18orf54	162681	broad.mit.edu	37	18	51887043	51887043	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:51887043C>T	ENST00000300091.5	+	2	433	c.101C>T	c.(100-102)tCt>tTt	p.S34F	C18orf54_ENST00000578138.1_Intron|STARD6_ENST00000577499.1_5'Flank|STARD6_ENST00000584040.1_5'Flank|C18orf54_ENST00000382911.4_Missense_Mutation_p.S34F|STARD6_ENST00000581310.1_5'Flank	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	34						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TCCTCTAATTCTGATGGCTCG	0.408																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(100-102)tCt>tTt		chromosome 18 open reading frame 54							132.0	121.0	124.0					18																	51887043		2203	4300	6503	SO:0001583	missense	162681					extracellular region		g.chr18:51887043C>T	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.101C>T	18.37:g.51887043C>T	ENSP00000300091:p.Ser34Phe					C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000382911.4_Missense_Mutation_p.S34F	p.S34F	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	2	433	+			34					I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	c.101C>T	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311717	0.60414	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	D;D	0.97642	-4.47;-4.47	5.63	5.63	0.86233	.	0.226724	0.38272	N	0.001759	D	0.98188	0.9401	M	0.74881	2.28	0.20873	N	0.999837	D;D	0.67145	0.993;0.996	D;D	0.65874	0.911;0.939	D	0.94371	0.7596	10	0.87932	D	0	-13.8636	18.4355	0.90645	0.0:1.0:0.0:0.0	.	34;34	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	F	34	ENSP00000300091:S34F;ENSP00000372368:S34F	ENSP00000300091:S34F	S	+	2	0	C18orf54	50141041	0.393000	0.25237	0.921000	0.36526	0.291000	0.27294	5.186000	0.65082	2.656000	0.90262	0.655000	0.94253	TCT		0.408	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		10	139	0	0	0	1	0	10	139				
MARK2	2011	broad.mit.edu	37	11	63671514	63671514	+	Missense_Mutation	SNP	C	C	T	rs373710920		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:63671514C>T	ENST00000509502.2	+	15	1932	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	MARK2_ENST00000513765.2_Missense_Mutation_p.A491V|MARK2_ENST00000377809.4_Missense_Mutation_p.A524V|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000502399.3_Missense_Mutation_p.A523V|MARK2_ENST00000402010.2_Missense_Mutation_p.A524V|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000315032.8_Missense_Mutation_p.A524V|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000350490.7_Intron	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGTCTCTGCGGCCCGGCCC	0.662																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1570-1572)gCg>gTg		MAP/microtubule affinity-regulating kinase 2			VAL/ALA,,,,VAL/ALA	0,3636		0,0,1818	16.0	20.0	19.0		1571,,,,1469	1.4	1.0	11		19	2,8124		0,2,4061	no	missense,intron,intron,intron,missense	MARK2	NM_001039469.2,NM_001163296.1,NM_001163297.1,NM_004954.4,NM_017490.3	64,,,,64	0,2,5879	TT,TC,CC		0.0246,0.0,0.017	benign,,,,benign	524/789,,,,490/746	63671514	2,11760	1818	4063	5881	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63671514C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1469C>T	11.37:g.63671514C>T	ENSP00000423974:p.Ala490Val					MARK2_ENST00000425897.2_Intron|MARK2_ENST00000377809.4_Missense_Mutation_p.A524V|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000513765.2_Missense_Mutation_p.A491V|MARK2_ENST00000509502.2_Missense_Mutation_p.A490V|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000502399.3_Missense_Mutation_p.A523V|MARK2_ENST00000315032.8_Missense_Mutation_p.A524V|MARK2_ENST00000413835.2_Intron	p.A524V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			15	2150	+			524						Missense_Mutation	SNP	ENST00000509502.2	37	c.1571C>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421723	0.43020	0.0	2.46E-4	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000502399;ENST00000509502;ENST00000513765	T;T;T;T;T	0.71579	-0.57;-0.54;-0.54;-0.58;-0.58	4.31	1.4	0.22301	.	0.532611	0.16509	N	0.211336	T	0.42063	0.1186	N	0.08118	0	0.80722	D	1	B;B	0.23249	0.02;0.082	B;B	0.14578	0.004;0.011	T	0.07809	-1.0753	10	0.23302	T	0.38	.	3.8122	0.08801	0.1689:0.5756:0.1633:0.0921	.	490;524	Q7KZI7-14;Q7KZI7	.;MARK2_HUMAN	V	524;524;524;523;490;491	ENSP00000385751:A524V;ENSP00000326632:A524V;ENSP00000367040:A524V;ENSP00000423974:A490V;ENSP00000421075:A491V	ENSP00000326632:A524V	A	+	2	0	MARK2	63428090	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	2.250000	0.43178	0.197000	0.20387	0.550000	0.68814	GCG		0.662	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		3	14	0	0	0	1	0	3	14				
ATP8A2	51761	broad.mit.edu	37	13	26127956	26127956	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:26127956C>T	ENST00000381655.2	+	12	1225	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	ATP8A2_ENST00000255283.8_Silent_p.Y321Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	321					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATTTTGGATACAACCTACTGA	0.383																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(1081-1083)taC>taT		ATPase, aminophospholipid transporter, class I, type 8A, member 2							179.0	169.0	172.0					13																	26127956		1885	4109	5994	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26127956C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1083C>T	13.37:g.26127956C>T						ATP8A2_ENST00000255283.8_Silent_p.Y321Y	p.Y361Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	12	1225	+		Breast(139;0.0201)|Lung SC(185;0.0225)	321					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.1083C>T	CCDS41873.1																																																																																				0.383	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		9	168	0	0	0	1	0	9	168				
GPC5	2262	broad.mit.edu	37	13	92380913	92380913	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:92380913G>A	ENST00000377067.3	+	4	1520	c.1148G>A	c.(1147-1149)aGa>aAa	p.R383K	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	383					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTTGCCAACAGAAGAAAGTAA	0.363																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1147-1149)aGa>aAa		glypican 5							102.0	107.0	105.0					13																	92380913		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380913G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1148G>A	13.37:g.92380913G>A	ENSP00000366267:p.Arg383Lys					GPC5_ENST00000483422.1_3'UTR	p.R383K	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			4	1520	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	383					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1148G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181490	0.57800	.	.	ENSG00000179399	ENST00000377067	T	0.50813	0.73	5.88	5.88	0.94601	.	0.265230	0.42294	D	0.000723	T	0.47801	0.1465	L	0.59436	1.845	0.41360	D	0.987427	B	0.18310	0.027	B	0.22152	0.038	T	0.33369	-0.9871	10	0.29301	T	0.29	1.1582	17.3925	0.87436	0.0:0.0:1.0:0.0	.	383	P78333	GPC5_HUMAN	K	383	ENSP00000366267:R383K	ENSP00000366267:R383K	R	+	2	0	GPC5	91178914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.748000	0.68697	2.792000	0.96026	0.557000	0.71058	AGA		0.363	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		7	84	0	0	0	1	0	7	84				
RNF213	57674	broad.mit.edu	37	17	78363062	78363062	+	Silent	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:78363062C>G	ENST00000582970.1	+	65	15233	c.15090C>G	c.(15088-15090)gtC>gtG	p.V5030V	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.V5079V|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.V3103V|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5030					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCGTAGAAGTCACTCTGGGGT	0.522																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(15088-15090)gtC>gtG		ring finger protein 213							130.0	115.0	120.0					17																	78363062		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78363062C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15090C>G	17.37:g.78363062C>G						RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Silent_p.V5079V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.V3103V	p.V5030V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		65	15233	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.15090C>G	CCDS58606.1																																																																																				0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	99	0	0	0	1	0	6	99				
OTUD7B	56957	broad.mit.edu	37	1	149916876	149916876	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:149916876G>C	ENST00000369135.4	-	12	1706	c.1412C>G	c.(1411-1413)tCa>tGa	p.S471*		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	471					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)			GCTGCCAACTGACTCCTTGTC	0.602																																						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.(1411-1413)tCa>tGa		OTU domain containing 7B							108.0	110.0	109.0					1																	149916876		2089	4213	6302	SO:0001587	stop_gained	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.chr1:149916876G>C	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.1412C>G	1.37:g.149916876G>C	ENSP00000358131:p.Ser471*						p.S471*	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1706	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		471					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Nonsense_Mutation	SNP	ENST00000369135.4	37	c.1412C>G	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	G	38	7.222153	0.98146	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.3071	17.451	0.87592	0.0:0.0:1.0:0.0	.	.	.	.	X	471	.	.	S	-	2	0	OTUD7B	148183500	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.218000	0.95166	2.600000	0.87896	0.557000	0.71058	TCA		0.602	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		6	103	0	0	0	1	0	6	103				
C14orf39	317761	broad.mit.edu	37	14	60935201	60935201	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:60935201C>G	ENST00000321731.3	-	9	888	c.729G>C	c.(727-729)aaG>aaC	p.K243N		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	243					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TATTTTTGTTCTTTTCTTCCA	0.289																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(727-729)aaG>aaC		chromosome 14 open reading frame 39							77.0	79.0	78.0					14																	60935201		2199	4283	6482	SO:0001583	missense	317761							g.chr14:60935201C>G	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.729G>C	14.37:g.60935201C>G	ENSP00000324920:p.Lys243Asn						p.K243N	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	9	888	-			243					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.729G>C	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339414	0.24339	.	.	ENSG00000179008	ENST00000321731	T	0.29397	1.57	5.1	-1.96	0.07525	.	0.474021	0.21195	N	0.078570	T	0.22742	0.0549	M	0.67953	2.075	0.22001	N	0.999421	B	0.13594	0.008	B	0.14578	0.011	T	0.27773	-1.0064	10	0.66056	D	0.02	-1.069	0.4133	0.00444	0.2978:0.1835:0.2952:0.2234	.	243	Q8N1H7	S6OS1_HUMAN	N	243	ENSP00000324920:K243N	ENSP00000324920:K243N	K	-	3	2	C14orf39	60004954	0.684000	0.27642	0.170000	0.22879	0.876000	0.50452	0.097000	0.15168	-0.209000	0.10156	0.655000	0.94253	AAG		0.289	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		4	159	0	0	0	1	0	4	159				
NINL	22981	broad.mit.edu	37	20	25472104	25472104	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:25472104C>T	ENST00000278886.6	-	11	1441	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A	NINL_ENST00000422516.1_Silent_p.A456A	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	456					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTCTCGCTCCGCCTCCACCT	0.652																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1366-1368)gcG>gcA		ninein-like							81.0	78.0	79.0					20																	25472104		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25472104C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1368G>A	20.37:g.25472104C>T						NINL_ENST00000422516.1_Silent_p.A456A	p.A456A	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			11	1441	-			456					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.1368G>A	CCDS33452.1																																																																																				0.652	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		6	61	0	0	0	1	0	6	61				
EIF2AK3	9451	broad.mit.edu	37	2	88885506	88885506	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:88885506G>A	ENST00000303236.3	-	9	1804	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	EIF2AK3_ENST00000419748.1_Silent_p.L350L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	501					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GTGGGTTGTCGAGGAATCTGA	0.353																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(1501-1503)ctC>ctT		eukaryotic translation initiation factor 2-alpha kinase 3							275.0	257.0	263.0					2																	88885506		2203	4300	6503	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88885506G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1503C>T	2.37:g.88885506G>A						EIF2AK3_ENST00000419748.1_Silent_p.L350L	p.L501L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			9	1804	-			501					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.1503C>T	CCDS33241.1																																																																																				0.353	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		13	149	0	0	0	1	0	13	149				
ZNF382	84911	broad.mit.edu	37	19	37117312	37117312	+	Silent	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:37117312C>G	ENST00000292928.2	+	5	626	c.513C>G	c.(511-513)ctC>ctG	p.L171L	ZNF382_ENST00000435416.1_Silent_p.L170L|ZNF382_ENST00000423582.1_Silent_p.L122L|ZNF382_ENST00000439428.1_Silent_p.L170L|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	171	Represses transcription. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAATCACTCCTCAATACCA	0.373																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(508-510)ctC>ctG		zinc finger protein 382							104.0	112.0	109.0					19																	37117312		2201	4300	6501	SO:0001819	synonymous_variant	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117312C>G	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.513C>G	19.37:g.37117312C>G						ZNF382_ENST00000292928.2_Silent_p.L171L|ZNF382_ENST00000439428.1_Silent_p.L170L|ZNF382_ENST00000423582.1_Silent_p.L122L	p.L170L			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2005	+	Esophageal squamous(110;0.198)		171			Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	c.510C>G	CCDS33004.1																																																																																				0.373	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		12	200	0	0	0	1	0	12	200				
NMD3	51068	broad.mit.edu	37	3	160960409	160960409	+	Missense_Mutation	SNP	C	C	G	rs377761509	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:160960409C>G	ENST00000460469.1	+	10	1440	c.985C>G	c.(985-987)Cgt>Ggt	p.R329G	NMD3_ENST00000472947.1_Missense_Mutation_p.R329G|NMD3_ENST00000351193.2_Missense_Mutation_p.R329G			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	329					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGATATAAAACGTGCTGCAGG	0.408																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(985-987)Cgt>Ggt		NMD3 ribosome export adaptor							91.0	87.0	88.0					3																	160960409		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160960409C>G	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.985C>G	3.37:g.160960409C>G	ENSP00000419004:p.Arg329Gly					NMD3_ENST00000351193.2_Missense_Mutation_p.R329G|NMD3_ENST00000472947.1_Missense_Mutation_p.R329G	p.R329G			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		10	1440	+			329					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.985C>G	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	2.725	-0.265670	0.05754	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.46451	0.88;0.87;0.88	4.47	3.59	0.41128	.	0.195798	0.45361	D	0.000376	T	0.38719	0.1051	L	0.52905	1.665	0.23712	N	0.997041	B;B;B	0.20164	0.0;0.042;0.0	B;B;B	0.22386	0.001;0.039;0.001	T	0.33317	-0.9873	10	0.44086	T	0.13	-39.9901	12.3307	0.55038	0.3212:0.6788:0.0:0.0	.	329;329;329	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	G	329;329;329;209	ENSP00000307525:R329G;ENSP00000417559:R329G;ENSP00000419004:R329G	ENSP00000307525:R329G	R	+	1	0	NMD3	162443103	0.978000	0.34361	0.032000	0.17829	0.004000	0.04260	2.303000	0.43646	1.170000	0.42753	-0.158000	0.13435	CGT		0.408	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		14	146	0	0	0	1	0	14	146				
ZNF217	7764	broad.mit.edu	37	20	52199008	52199008	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:52199008C>T	ENST00000371471.2	-	2	783	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	ZNF217_ENST00000302342.3_Missense_Mutation_p.E120K|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	120					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAATTCTTTTCCTTGGGAGGT	0.453																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(358-360)Gaa>Aaa		zinc finger protein 217							139.0	122.0	127.0					20																	52199008		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199008C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.358G>A	20.37:g.52199008C>T	ENSP00000360526:p.Glu120Lys					ZNF217_ENST00000302342.3_Missense_Mutation_p.E120K	p.E120K			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	783	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		120					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.358G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	7.786	0.710448	0.15239	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08896	3.04;3.04	5.79	5.79	0.91817	.	0.797210	0.11599	N	0.547974	T	0.05731	0.0150	N	0.19112	0.55	0.33818	D	0.628676	B	0.10296	0.003	B	0.04013	0.001	T	0.13710	-1.0499	10	0.06891	T	0.86	-31.9285	10.8857	0.46965	0.0:0.9154:0.0:0.0846	.	120	O75362	ZN217_HUMAN	K	120	ENSP00000360526:E120K;ENSP00000304308:E120K	ENSP00000304308:E120K	E	-	1	0	ZNF217	51632415	0.162000	0.22906	0.998000	0.56505	0.430000	0.31655	1.167000	0.31847	2.733000	0.93635	0.655000	0.94253	GAA		0.453	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		9	233	0	0	0	1	0	9	233				
SCN2A	6326	broad.mit.edu	37	2	166210926	166210926	+	Silent	SNP	A	A	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:166210926A>G	ENST00000375437.2	+	17	3434	c.3144A>G	c.(3142-3144)aaA>aaG	p.K1048K	SCN2A_ENST00000375427.2_Silent_p.K1048K|SCN2A_ENST00000283256.6_Silent_p.K1048K|SCN2A_ENST00000357398.3_Silent_p.K1048K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1048					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAATAATAAAAAAGACAGCT	0.343																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3142-3144)aaA>aaG		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						60.0	65.0	64.0					2																	166210926		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166210926A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3144A>G	2.37:g.166210926A>G						SCN2A_ENST00000375427.2_Silent_p.K1048K|SCN2A_ENST00000357398.3_Silent_p.K1048K|SCN2A_ENST00000283256.6_Silent_p.K1048K	p.K1048K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			17	3434	+			1048					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.3144A>G	CCDS33314.1																																																																																				0.343	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		7	77	0	0	0	1	0	7	77				
CCDC150	284992	broad.mit.edu	37	2	197534573	197534573	+	Silent	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:197534573C>G	ENST00000389175.4	+	8	1044	c.909C>G	c.(907-909)ctC>ctG	p.L303L	CCDC150_ENST00000472405.2_Nonsense_Mutation_p.S118*|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	303										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGATGACCTCATTTCCAAGT	0.333																																						ENST00000472405.2																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(352-354)tCa>tGa		coiled-coil domain containing 150							201.0	193.0	195.0					2																	197534573		1814	4083	5897	SO:0001819	synonymous_variant	284992							g.chr2:197534573C>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.909C>G	2.37:g.197534573C>G						CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000389175.4_Silent_p.L303L	p.S118*			Q8NCX0	CC150_HUMAN			5	563	+			221					Q6P5U6|Q6P663|Q8N8V5	Nonsense_Mutation	SNP	ENST00000389175.4	37	c.353C>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775122	0.90108	.	.	ENSG00000144395	ENST00000472405	.	.	.	4.53	0.204	0.15199	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.4048	0.07336	0.3002:0.467:0.1461:0.0867	.	.	.	.	X	118	.	ENSP00000441149:S118X	S	+	2	0	CCDC150	197242818	0.983000	0.35010	0.996000	0.52242	0.949000	0.60115	0.296000	0.19083	0.117000	0.18138	0.460000	0.39030	TCA		0.333	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		8	129	0	0	0	1	0	8	129				
MASTL	84930	broad.mit.edu	37	10	27459503	27459503	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:27459503G>A	ENST00000375940.4	+	8	1672	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	MASTL_ENST00000375946.4_Missense_Mutation_p.D539N|MASTL_ENST00000342386.6_Missense_Mutation_p.D539N|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	539	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGATGAAGACTGTGAAAA	0.313																																						ENST00000375946.4																			0				breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1615-1617)Gac>Aac		microtubule associated serine/threonine kinase-like							85.0	88.0	87.0					10																	27459503		2203	4300	6503	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459503G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1615G>A	10.37:g.27459503G>A	ENSP00000365107:p.Asp539Asn					MASTL_ENST00000375940.4_Missense_Mutation_p.D539N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D539N	p.D539N	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN			8	2218	+			539			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1615G>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083659	0.36758	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.26518	1.73;1.73;1.73	5.58	5.58	0.84498	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.248780	0.47093	D	0.000241	T	0.44030	0.1274	L	0.49640	1.575	0.41479	D	0.988152	P;P;D	0.89917	0.886;0.818;1.0	P;B;D	0.91635	0.517;0.339;0.999	T	0.19516	-1.0303	10	0.46703	T	0.11	-28.5327	12.8651	0.57936	0.0744:0.0:0.9256:0.0	.	539;539;539	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	N	539	ENSP00000365113:D539N;ENSP00000343446:D539N;ENSP00000365107:D539N	ENSP00000343446:D539N	D	+	1	0	MASTL	27499509	1.000000	0.71417	0.990000	0.47175	0.488000	0.33401	2.706000	0.47135	2.617000	0.88574	0.591000	0.81541	GAC		0.313	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		6	107	0	0	0	1	0	6	107				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	25	1	0	0.014758	1	0.0148404	4	25				
RIMS2	9699	broad.mit.edu	37	8	105260960	105260960	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:105260960G>A	ENST00000436393.2	+	25	3803	c.3562G>A	c.(3562-3564)Gat>Aat	p.D1188N	RIMS2_ENST00000339750.2_Missense_Mutation_p.D106N|RIMS2_ENST00000507740.1_Missense_Mutation_p.D984N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1009N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1170N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1232					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGCCTCTGATAGCCAGTT	0.463										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2950-2952)Gat>Aat		regulating synaptic membrane exocytosis 2							113.0	112.0	112.0					8																	105260960		2133	4270	6403	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105260960G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3562G>A	8.37:g.105260960G>A	ENSP00000390665:p.Asp1188Asn	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.D1170N|RIMS2_ENST00000436393.2_Missense_Mutation_p.D1188N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1009N|RIMS2_ENST00000339750.2_Missense_Mutation_p.D106N	p.D984N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		19	3186	+			1232					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2950G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.470890	0.96274	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.24723	2.57;2.27;2.32;1.84;2.52;2.13;2.11	5.34	5.34	0.76211	.	.	.	.	.	T	0.47857	0.1468	L	0.56199	1.76	0.80722	D	1	D;P;P;P;P	0.61697	0.99;0.877;0.954;0.557;0.557	P;B;D;B;B	0.67900	0.903;0.411;0.954;0.295;0.295	T	0.38929	-0.9638	9	0.59425	D	0.04	.	19.4079	0.94655	0.0:0.0:1.0:0.0	.	1232;1188;1009;984;1170	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	N	1207;1170;1232;1009;984;1177;1188;106;106	ENSP00000384892:D1170N;ENSP00000262231:D1009N;ENSP00000423559:D984N;ENSP00000386228:D1177N;ENSP00000390665:D1188N;ENSP00000428478:D106N;ENSP00000342051:D106N	ENSP00000262231:D1009N	D	+	1	0	RIMS2	105330136	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.664000	0.90586	0.650000	0.86243	GAT		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	123	0	0	0	1	0	6	123				
ZBTB9	221504	broad.mit.edu	37	6	33424102	33424102	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:33424102C>T	ENST00000395064.2	+	2	1493	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	409					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)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTTCAGCCTTCGGCCTTTTGG	0.567																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1225-1227)Cgg>Tgg		zinc finger and BTB domain containing 9							79.0	62.0	68.0					6																	33424102		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33424102C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1225C>T	6.37:g.33424102C>T	ENSP00000378503:p.Arg409Trp						p.R409W	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1493	+			409					A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.1225C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045066	0.55110	.	.	ENSG00000213588	ENST00000395064	T	0.49139	0.79	5.1	2.0	0.26442	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.209202	0.27415	U	0.019461	T	0.68714	0.3031	H	0.95079	3.62	0.42644	D	0.993426	D	0.89917	1.0	D	0.91635	0.999	T	0.77230	-0.2664	10	0.87932	D	0	.	11.4439	0.50112	0.6118:0.3882:0.0:0.0	.	409	Q96C00	ZBTB9_HUMAN	W	409	ENSP00000378503:R409W	ENSP00000378503:R409W	R	+	1	2	ZBTB9	33532080	0.988000	0.35896	0.973000	0.42090	0.999000	0.98932	1.612000	0.36889	0.692000	0.31613	0.655000	0.94253	CGG		0.567	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		7	41	0	0	0	1	0	7	41				
ZNF429	353088	broad.mit.edu	37	19	21719223	21719223	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:21719223G>A	ENST00000358491.4	+	4	576	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	123					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(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GTAGGTGATTGTAAGCTATAC	0.328																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(367-369)tGt>tAt		zinc finger protein 429							72.0	76.0	75.0					19																	21719223		2136	4267	6403	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719223G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.368G>A	19.37:g.21719223G>A	ENSP00000351280:p.Cys123Tyr					ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron	p.C123Y	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	576	+			123					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.368G>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.466	-0.886640	0.02511	.	.	ENSG00000197013	ENST00000358491	T	0.06608	3.28	1.17	1.17	0.20885	.	.	.	.	.	T	0.05364	0.0142	L	0.58969	1.84	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.48570	-0.9024	9	0.02654	T	1	.	4.467	0.11694	0.0:0.0:0.6198:0.3802	.	123	Q86V71	ZN429_HUMAN	Y	123	ENSP00000351280:C123Y	ENSP00000351280:C123Y	C	+	2	0	ZNF429	21511063	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.314000	0.19432	0.581000	0.29539	0.298000	0.19748	TGT		0.328	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		7	92	0	0	0	1	0	7	92				
MTBP	27085	broad.mit.edu	37	8	121500404	121500404	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:121500404G>A	ENST00000305949.1	+	12	1216	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	391					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTAGTTCCAGATGTTGAAGT	0.328																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1171-1173)Gat>Aat		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							103.0	96.0	98.0					8																	121500404		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121500404G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1171G>A	8.37:g.121500404G>A	ENSP00000303398:p.Asp391Asn						p.D391N	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		12	1216	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		391					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1171G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122687	0.77436	.	.	ENSG00000172167	ENST00000305949	.	.	.	6.17	6.17	0.99709	.	0.121353	0.64402	D	0.000012	T	0.61776	0.2374	M	0.66939	2.045	0.43095	D	0.994779	B	0.27351	0.176	B	0.26202	0.067	T	0.58814	-0.7570	9	0.42905	T	0.14	-21.7341	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	391	Q96DY7	MTBP_HUMAN	N	391	.	ENSP00000303398:D391N	D	+	1	0	MTBP	121569585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.755000	0.68750	2.941000	0.99782	0.655000	0.94253	GAT		0.328	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		9	77	0	0	0	1	0	9	77				
MLH3	27030	broad.mit.edu	37	14	75513215	75513215	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:75513215G>A	ENST00000556740.1	-	1	3179	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	MLH3_ENST00000238662.7_Silent_p.F1048F|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Silent_p.F1048F|MLH3_ENST00000544985.1_Silent_p.F43F|MLH3_ENST00000556257.1_Silent_p.F1048F|MLH3_ENST00000555671.1_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1048					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGGCTACATCGAAATGCCGCT	0.433								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3142-3144)ttC>ttT	Mismatch excision repair (MMR)	mutL homolog 3							129.0	116.0	121.0					14																	75513215		2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75513215G>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3144C>T	14.37:g.75513215G>A						MLH3_ENST00000556740.1_Silent_p.F1048F|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Silent_p.F1048F|MLH3_ENST00000544985.1_Silent_p.F43F|MLH3_ENST00000238662.7_Silent_p.F1048F|MLH3_ENST00000380968.2_5'UTR	p.F1048F	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	3359	-			1048					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.3144C>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	2.915	-0.224571	0.06061	.	.	ENSG00000119684	ENST00000553713	.	.	.	5.4	2.65	0.31530	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52026	-0.8630	4	.	.	.	-17.3221	9.5901	0.39541	0.8455:0.0:0.1545:0.0	.	.	.	.	L	105	.	.	S	-	2	0	MLH3	74582968	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	2.659000	0.46741	0.401000	0.25424	-0.438000	0.05819	TCG		0.433	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		11	127	0	0	0	1	0	11	127				
CYP4Z1	199974	broad.mit.edu	37	1	47571830	47571830	+	Silent	SNP	G	G	A	rs151236717	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:47571830G>A	ENST00000334194.3	+	9	1101	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	366						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.T366T(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTTACACCACGATGTGCATCA	0.522													G|||	12	0.00239617	0.0083	0.0	5008	,	,		18430	0.0		0.001	False		,,,				2504	0.0					ENST00000334194.3																			1	Substitution - coding silent(1)	p.T366T(1)	cervix(1)	cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1096-1098)acG>acA		cytochrome P450, family 4, subfamily Z, polypeptide 1		G		22,4384	28.1+/-56.4	0,22,2181	140.0	119.0	126.0		1098	-6.5	0.9	1	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	CYP4Z1	NM_178134.2		0,22,6481	AA,AG,GG		0.0,0.4993,0.1692		366/506	47571830	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47571830G>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1098G>A	1.37:g.47571830G>A						CYP4A22-AS1_ENST00000444042.2_lincRNA	p.T366T	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			9	1101	+			366					Q5VVE4	Silent	SNP	ENST00000334194.3	37	c.1098G>A	CCDS545.1																																																																																				0.522	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		6	150	0	0	0	1	0	6	150				
HOXB3	3213	broad.mit.edu	37	17	46629701	46629701	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:46629701C>T	ENST00000470495.1	-	1	1583	c.136G>A	c.(136-138)Gac>Aac	p.D46N	HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.D46N|HOXB3_ENST00000472863.1_5'UTR|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.D46N|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.D46N|HOXB3_ENST00000489475.1_5'UTR|HOXB3_ENST00000490677.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000435312.1_RNA			P14651	HXB3_HUMAN	homeobox B3	46					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CGCTGGTAGTCGCCCTCCAGG	0.647																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(136-138)Gac>Aac		homeobox B3							28.0	34.0	32.0					17																	46629701		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629701C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.136G>A	17.37:g.46629701C>T	ENSP00000417207:p.Asp46Asn					HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.D46N|HOXB3_ENST00000472863.1_5'UTR|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.D46N|HOXB3_ENST00000489475.1_5'UTR|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.D46N	p.D46N			P14651	HXB3_HUMAN			1	1583	-			46					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.136G>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369486	0.42003	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	4.05	4.05	0.47172	.	0.464899	0.21782	N	0.069183	D	0.92169	0.7517	M	0.63428	1.95	0.80722	D	1	D	0.58268	0.982	P	0.47102	0.537	D	0.93586	0.6917	10	0.87932	D	0	.	16.7499	0.85482	0.0:1.0:0.0:0.0	.	46	P14651	HXB3_HUMAN	N	46	ENSP00000417207:D46N;ENSP00000308252:D46N;ENSP00000420595:D46N;ENSP00000418892:D46N	ENSP00000308252:D46N	D	-	1	0	HOXB3	43984700	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	7.185000	0.77714	2.251000	0.74343	0.561000	0.74099	GAC		0.647	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			4	51	0	0	0	1	0	4	51				
MUC3A	4584	broad.mit.edu	37	7	100551290	100551290	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:100551290C>T	ENST00000319509.7	+	1	41	c.41C>T	c.(40-42)tCa>tTa	p.S14L				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1679					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCCATCACCTCACATTTTACT	0.517																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(40-42)tCa>tTa		mucin 3A, cell surface associated							185.0	173.0	176.0					7																	100551290		876	1991	2867	SO:0001583	missense	4584							g.chr7:100551290C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.41C>T	7.37:g.100551290C>T	ENSP00000324834:p.Ser14Leu						p.S14L							1	41	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.41C>T		.	.	.	.	.	.	.	.	.	.	C	9.693	1.152528	0.21371	.	.	ENSG00000169894	ENST00000319509	T	0.14144	2.53	1.99	-0.11	0.13580	.	.	.	.	.	T	0.06508	0.0167	N	0.08118	0	0.31099	N	0.710612	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.39692	T	0.17	.	4.7632	0.13118	0.0:0.6261:0.2225:0.1514	.	.	.	.	L	14	ENSP00000324834:S14L	ENSP00000324834:S14L	S	+	2	0	MUC3A	100389226	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.423000	0.21313	-0.035000	0.13691	-0.680000	0.03767	TCA		0.517	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		12	122	0	0	0	1	0	12	122				
RPAP3	79657	broad.mit.edu	37	12	48075550	48075550	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:48075550G>A	ENST00000005386.3	-	10	1158	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	RPAP3_ENST00000380650.4_Missense_Mutation_p.S348L|RPAP3_ENST00000432584.3_Missense_Mutation_p.S189L	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	348										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TTTAGAATATGAGCCATCTAA	0.363																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1042-1044)tCa>tTa		RNA polymerase II associated protein 3							108.0	96.0	100.0					12																	48075550		2202	4300	6502	SO:0001583	missense	79657						binding	g.chr12:48075550G>A	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1043C>T	12.37:g.48075550G>A	ENSP00000005386:p.Ser348Leu					RPAP3_ENST00000380650.4_Missense_Mutation_p.S348L|RPAP3_ENST00000432584.3_Missense_Mutation_p.S189L	p.S348L	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			10	1158	-	Lung SC(27;0.192)		348					B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	c.1043C>T	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474066	0.84640	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.15603	2.82;2.41;2.83	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.339000	0.30930	N	0.008600	T	0.39064	0.1064	L	0.60845	1.875	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.75484	0.968;0.986	T	0.01566	-1.1323	10	0.31617	T	0.26	.	18.4725	0.90779	0.0:0.0:1.0:0.0	.	348;348	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	L	348;189;348	ENSP00000005386:S348L;ENSP00000401823:S189L;ENSP00000370024:S348L	ENSP00000005386:S348L	S	-	2	0	RPAP3	46361817	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.155000	0.94700	2.689000	0.91719	0.460000	0.39030	TCA		0.363	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		4	91	0	0	0	1	0	4	91				
STK32A	202374	broad.mit.edu	37	5	146730662	146730662	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:146730662G>A	ENST00000397936.3	+	7	840	c.507G>A	c.(505-507)gcG>gcA	p.A169A	STK32A_ENST00000398523.3_Silent_p.A169A	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATTGCTGCGATGCTGCCCA	0.463																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(505-507)gcG>gcA		serine/threonine kinase 32A							99.0	88.0	91.0					5																	146730662		1568	3582	5150	SO:0001819	synonymous_variant	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146730662G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.507G>A	5.37:g.146730662G>A						STK32A_ENST00000398523.3_Silent_p.A169A	p.A169A	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	840	+			169			Protein kinase.		B3KSY0	Silent	SNP	ENST00000397936.3	37	c.507G>A	CCDS47299.1																																																																																				0.463	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		5	89	0	0	0	1	0	5	89				
TCF20	6942	broad.mit.edu	37	22	42607723	42607723	+	Missense_Mutation	SNP	G	G	C	rs144735319		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:42607723G>C	ENST00000359486.3	-	1	3725	c.3589C>G	c.(3589-3591)Cca>Gca	p.P1197A	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.P1197A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTTGGCTGGAGAAGTTTGC	0.498																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(3589-3591)Cca>Gca		transcription factor 20 (AR1)							73.0	71.0	72.0					22																	42607723		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607723G>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3589C>G	22.37:g.42607723G>C	ENSP00000352463:p.Pro1197Ala					TCF20_ENST00000335626.4_Missense_Mutation_p.P1197A	p.P1197A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	3725	-			1197					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3589C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369963	0.82573	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.78003	-1.14;-1.13	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	D	0.82458	0.5041	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.84520	0.0627	10	0.72032	D	0.01	-9.7324	19.7421	0.96237	0.0:0.0:1.0:0.0	.	1197;1197	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	A	1197	ENSP00000352463:P1197A;ENSP00000335561:P1197A	ENSP00000335561:P1197A	P	-	1	0	TCF20	40937667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.465000	0.66725	2.666000	0.90696	0.650000	0.86243	CCA		0.498	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		5	84	0	0	0	1	0	5	84				
ARHGAP18	93663	broad.mit.edu	37	6	129929118	129929118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:129929118C>T	ENST00000368149.2	-	9	1290	c.1202G>A	c.(1201-1203)aGc>aAc	p.S401N		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.S401N(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTTCAGCAGGCTGGCGGCATC	0.458																																						ENST00000368149.2																			1	Substitution - Missense(1)	p.S401N(1)	large_intestine(1)	NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1201-1203)aGc>aAc		Rho GTPase activating protein 18							95.0	93.0	94.0					6																	129929118		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129929118C>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1202G>A	6.37:g.129929118C>T	ENSP00000357131:p.Ser401Asn						p.S401N	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	9	1290	-			401			Rho-GAP.			Missense_Mutation	SNP	ENST00000368149.2	37	c.1202G>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102697	0.94245	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	6.03	6.03	0.97812	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79784	0.993;0.937	T	0.68405	-0.5417	8	.	.	.	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	401;401	A9UK01;Q8N392	.;RHG18_HUMAN	N	356;401	.	.	S	-	2	0	ARHGAP18	129970811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.985000	0.70556	2.861000	0.98227	0.655000	0.94253	AGC		0.458	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		6	94	0	0	0	1	0	6	94				
PCDHB15	56121	broad.mit.edu	37	5	140625549	140625549	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:140625549G>A	ENST00000231173.3	+	1	403	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	135					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGTTTCCTGAAAGAGAAAT	0.418																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(403-405)Gaa>Aaa									76.0	80.0	79.0					5																	140625549		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625549G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.403G>A	5.37:g.140625549G>A	ENSP00000231173:p.Glu135Lys						p.E135K	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	403	+			135					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.403G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	4.160	0.028161	0.08054	.	.	ENSG00000113248	ENST00000231173	T	0.19532	2.14	4.76	4.76	0.60689	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.17916	0.0430	L	0.31752	0.955	0.09310	N	1	B	0.15141	0.012	B	0.20955	0.032	T	0.09952	-1.0651	9	0.34782	T	0.22	.	13.4048	0.60906	0.0:0.2767:0.7233:0.0	.	135	Q9Y5E8	PCDBF_HUMAN	K	135	ENSP00000231173:E135K	ENSP00000231173:E135K	E	+	1	0	PCDHB15	140605733	0.000000	0.05858	1.000000	0.80357	0.456000	0.32438	-0.364000	0.07583	2.356000	0.79943	0.313000	0.20887	GAA		0.418	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		7	157	0	0	0	1	0	7	157				
KIAA1109	84162	broad.mit.edu	37	4	123267827	123267827	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:123267827C>T	ENST00000264501.4	+	75	13156	c.12783C>T	c.(12781-12783)ctC>ctT	p.L4261L	KIAA1109_ENST00000388738.3_Silent_p.L4261L			Q2LD37	K1109_HUMAN	KIAA1109	4261					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCGCCGACTCAGTGAAATTC	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(12781-12783)ctC>ctT		KIAA1109							169.0	156.0	160.0					4																	123267827		1858	4096	5954	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123267827C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12783C>T	4.37:g.123267827C>T						KIAA1109_ENST00000388738.3_Silent_p.L4261L	p.L4261L			Q2LD37	K1109_HUMAN			75	13156	+			4261					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.12783C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	9.282	1.048307	0.19827	.	.	ENSG00000138688	ENST00000306802	.	.	.	5.99	4.15	0.48705	.	.	.	.	.	T	0.63236	0.2494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62139	-0.6917	4	.	.	.	.	12.1389	0.53986	0.0:0.6081:0.3235:0.0684	.	.	.	.	L	637	.	.	S	+	2	0	KIAA1109	123487277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.254000	0.43214	1.500000	0.48636	0.655000	0.94253	TCA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	188	0	0	0	1	0	6	188				
GRIN2C	2905	broad.mit.edu	37	17	72842377	72842377	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:72842377G>A	ENST00000293190.5	-	11	2324	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	GRIN2C_ENST00000347612.4_Silent_p.F726F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	726					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATCATAGATGAAGGCATCCA	0.582																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2176-2178)ttC>ttT		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						124.0	93.0	103.0					17																	72842377		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72842377G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2178C>T	17.37:g.72842377G>A						GRIN2C_ENST00000347612.4_Silent_p.F726F	p.F726F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			11	2324	-	all_lung(278;0.172)|Lung NSC(278;0.207)		726					B2RTT1	Silent	SNP	ENST00000293190.5	37	c.2178C>T	CCDS32724.1																																																																																				0.582	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			5	79	0	0	0	1	0	5	79				
CPAMD8	27151	broad.mit.edu	37	19	17057938	17057938	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:17057938C>G	ENST00000443236.1	-	21	2780	c.2749G>C	c.(2749-2751)Gag>Cag	p.E917Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	870						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGATGGGCTCAGCCTCCCCG	0.597																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2749-2751)Gag>Cag		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							124.0	124.0	124.0					19																	17057938		1995	4161	6156	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17057938C>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2749G>C	19.37:g.17057938C>G	ENSP00000402505:p.Glu917Gln						p.E917Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			21	2780	-			870					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2749G>C	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	3.342	-0.134435	0.06711	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.46	0.887	0.19200	.	0.437890	0.21121	U	0.079804	T	0.24198	0.0586	L	0.29908	0.895	0.21740	N	0.99957	B	0.16802	0.019	B	0.11329	0.006	T	0.12528	-1.0544	9	0.27785	T	0.31	.	4.3972	0.11369	0.0:0.177:0.1967:0.6263	.	870	Q8IZJ3	CPMD8_HUMAN	Q	917	.	ENSP00000291440:E917Q	E	-	1	0	CPAMD8	16918938	0.804000	0.28969	0.001000	0.08648	0.396000	0.30629	1.169000	0.31871	0.018000	0.15052	0.491000	0.48974	GAG		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		9	235	0	0	0	1	0	9	235				
ZBTB6	10773	broad.mit.edu	37	9	125673418	125673418	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:125673418G>A	ENST00000373659.3	-	2	1022	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TTTTCAACATGAAGAAAGCCT	0.418																																						ENST00000373659.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						c.(934-936)Cat>Tat		zinc finger and BTB domain containing 6							81.0	78.0	79.0					9																	125673418		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673418G>A	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.934C>T	9.37:g.125673418G>A	ENSP00000362763:p.His312Tyr						p.H312Y	NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN			2	1022	-			312					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.934C>T	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142648	0.77888	.	.	ENSG00000186130	ENST00000373659	T	0.14893	2.47	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.099726	0.64402	D	0.000001	T	0.24236	0.0587	N	0.14661	0.345	0.58432	D	0.999994	D	0.63046	0.992	P	0.62491	0.903	T	0.04017	-1.0984	10	0.23302	T	0.38	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	312	Q15916	ZBTB6_HUMAN	Y	312	ENSP00000362763:H312Y	ENSP00000362763:H312Y	H	-	1	0	ZBTB6	124713239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.872000	0.87187	2.941000	0.99782	0.655000	0.94253	CAT		0.418	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		9	134	0	0	0	1	0	9	134				
MYO1D	4642	broad.mit.edu	37	17	31082662	31082662	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:31082662G>C	ENST00000318217.5	-	11	1619	c.1315C>G	c.(1315-1317)Cag>Gag	p.Q439E	MYO1D_ENST00000394649.4_Missense_Mutation_p.Q351E|MYO1D_ENST00000579584.1_Missense_Mutation_p.Q439E|MYO1D_ENST00000584232.1_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	439	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAATGATCTGATTGTTGAAG	0.453																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1315-1317)Cag>Gag		myosin ID							100.0	72.0	81.0					17																	31082662		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31082662G>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1315C>G	17.37:g.31082662G>C	ENSP00000324527:p.Gln439Glu					MYO1D_ENST00000579584.1_Missense_Mutation_p.Q439E|MYO1D_ENST00000394649.4_Missense_Mutation_p.Q351E|MYO1D_ENST00000584232.1_5'UTR	p.Q439E	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		11	1619	-			439			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1315C>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601168	0.46423	.	.	ENSG00000176658	ENST00000318217	D	0.88431	-2.38	6.17	6.17	0.99709	Myosin head, motor domain (3);	0.000000	0.37530	U	0.002045	D	0.89849	0.6834	M	0.77406	2.37	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.23150	0.044;0.044	D	0.84739	0.0750	10	0.35671	T	0.21	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	350;439	Q7Z3N6;O94832	.;MYO1D_HUMAN	E	439	ENSP00000324527:Q439E	ENSP00000324527:Q439E	Q	-	1	0	MYO1D	28106775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.941000	0.99782	0.655000	0.94253	CAG		0.453	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			4	45	0	0	0	1	0	4	45				
DFFA	1676	broad.mit.edu	37	1	10523546	10523546	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:10523546G>A	ENST00000377038.3	-	4	640	c.573C>T	c.(571-573)ctC>ctT	p.L191L	DFFA_ENST00000377036.2_Silent_p.L191L	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	191					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		ACAGCTGCAGGAGCTGCTTGG	0.562																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(571-573)ctC>ctT		DNA fragmentation factor, 45kDa, alpha polypeptide							80.0	75.0	77.0					1																	10523546		2203	4300	6503	SO:0001819	synonymous_variant	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523546G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.573C>T	1.37:g.10523546G>A						DFFA_ENST00000377036.2_Silent_p.L191L	p.L191L	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	640	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	191					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Silent	SNP	ENST00000377038.3	37	c.573C>T	CCDS118.1																																																																																				0.562	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		7	162	0	0	0	1	0	7	162				
ZNF468	90333	broad.mit.edu	37	19	53344689	53344689	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:53344689G>A	ENST00000595646.1	-	4	978	c.858C>T	c.(856-858)ctC>ctT	p.L286L	ZNF468_ENST00000390651.4_Silent_p.L233L|ZNF468_ENST00000396409.4_Silent_p.L233L|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTGAATGAAGAGGGATGAAT	0.418																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(856-858)ctC>ctT		zinc finger protein 468							121.0	115.0	117.0					19																	53344689		2203	4300	6503	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344689G>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.858C>T	19.37:g.53344689G>A						ZNF468_ENST00000396409.4_Silent_p.L233L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L233L|ZNF28_ENST00000594602.1_Intron	p.L286L			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	978	-			286					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.858C>T	CCDS33094.1																																																																																				0.418	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		14	202	0	0	0	1	0	14	202				
DAXX	1616	broad.mit.edu	37	6	33286925	33286925	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:33286925G>A	ENST00000374542.5	-	7	2216	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S596F|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.S671F|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	671	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGCCAAGGGGGAAGGTGGGCT	0.542			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(2011-2013)tCc>tTc		death-domain associated protein							94.0	100.0	98.0					6																	33286925		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33286925G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.2012C>T	6.37:g.33286925G>A	ENSP00000363668:p.Ser671Phe					DAXX_ENST00000414083.2_Missense_Mutation_p.S596F|DAXX_ENST00000266000.6_Missense_Mutation_p.S671F	p.S671F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			7	2216	-			671			Interaction with SPOP.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.2012C>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661320	0.29515	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.71	4.71	0.59529	.	0.489526	0.18583	N	0.136978	T	0.57710	0.2072	L	0.57536	1.79	0.31300	N	0.688435	D;D	0.63046	0.992;0.992	D;D	0.66847	0.947;0.947	T	0.57734	-0.7760	9	0.66056	D	0.02	-5.8178	13.0233	0.58800	0.0:0.0:1.0:0.0	.	683;671	B4E1C1;Q9UER7	.;DAXX_HUMAN	F	671;671;596	.	ENSP00000266000:S671F	S	-	2	0	DAXX	33394903	0.984000	0.35163	0.449000	0.26957	0.071000	0.16799	2.123000	0.41996	2.451000	0.82905	0.643000	0.83706	TCC		0.542	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			7	108	0	0	0	1	0	7	108				
CENPV	201161	broad.mit.edu	37	17	16247996	16247996	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:16247996G>A	ENST00000299736.4	-	4	671	c.609C>T	c.(607-609)ttC>ttT	p.F203F	PIGL_ENST00000581006.1_Intron|CENPV_ENST00000476243.1_Silent_p.F49F	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	206					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						TGTGAGTATTGAACGTGTAAG	0.388																																						ENST00000476243.1																			0				endometrium(1)|large_intestine(2)	3						c.(145-147)ttC>ttT		centromere protein V							127.0	118.0	121.0					17																	16247996		2203	4300	6503	SO:0001819	synonymous_variant	201161				cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity	g.chr17:16247996G>A	AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"""proline rich 6"""	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.609C>T	17.37:g.16247996G>A						PIGL_ENST00000581006.1_Intron|CENPV_ENST00000299736.4_Silent_p.F203F	p.F49F			Q7Z7K6	CENPV_HUMAN			4	1276	-			206					B2RPK2|Q3L8N5|Q8NFH6	Silent	SNP	ENST00000299736.4	37	c.147C>T	CCDS32575.1																																																																																				0.388	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131877.1	NM_181716		5	144	0	0	0	1	0	5	144				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	66	0	0	0	1	0	5	66				
ZNF366	167465	broad.mit.edu	37	5	71756606	71756606	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:71756606C>G	ENST00000318442.5	-	2	1208	c.718G>C	c.(718-720)Gac>Cac	p.D240H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	240					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TAGTAGCTGTCATCGATCTGC	0.632																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(718-720)Gac>Cac		zinc finger protein 366							143.0	138.0	139.0					5																	71756606		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756606C>G	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.718G>C	5.37:g.71756606C>G	ENSP00000313158:p.Asp240His						p.D240H	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1208	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	240					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.718G>C	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699609	0.88830	.	.	ENSG00000178175	ENST00000318442	T	0.10005	2.92	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	T	0.33089	0.0851	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00353	-1.1795	10	0.72032	D	0.01	-60.7604	20.3633	0.98874	0.0:1.0:0.0:0.0	.	240	Q8N895	ZN366_HUMAN	H	240	ENSP00000313158:D240H	ENSP00000313158:D240H	D	-	1	0	ZNF366	71792362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.790000	0.85794	2.826000	0.97356	0.561000	0.74099	GAC		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			7	185	0	0	0	1	0	7	185				
DHX16	8449	broad.mit.edu	37	6	30640519	30640519	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:30640519C>T	ENST00000376442.3	-	1	295	c.100G>A	c.(100-102)Gca>Aca	p.A34T		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	34					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CAGCGCTGTGCGGTACCGATC	0.662																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(100-102)Gca>Aca		DEAH (Asp-Glu-Ala-His) box polypeptide 16							50.0	50.0	50.0					6																	30640519		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30640519C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.100G>A	6.37:g.30640519C>T	ENSP00000365625:p.Ala34Thr						p.A34T	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			1	295	-			34					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.100G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254284	0.80135	.	.	ENSG00000204560	ENST00000376442	T	0.03889	3.77	4.67	4.67	0.58626	.	0.057678	0.64402	D	0.000002	T	0.03564	0.0102	M	0.72894	2.215	0.80722	D	1	P	0.50943	0.94	B	0.35182	0.197	T	0.47195	-0.9136	10	0.44086	T	0.13	.	16.5074	0.84276	0.0:1.0:0.0:0.0	.	34	O60231	DHX16_HUMAN	T	34	ENSP00000365625:A34T	ENSP00000365625:A34T	A	-	1	0	DHX16	30748498	1.000000	0.71417	0.985000	0.45067	0.088000	0.18126	6.018000	0.70811	2.430000	0.82344	0.455000	0.32223	GCA		0.662	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		4	63	0	0	0	1	0	4	63				
EPG5	57724	broad.mit.edu	37	18	43467785	43467785	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:43467785G>A	ENST00000282041.5	-	29	5074	c.5040C>T	c.(5038-5040)gtC>gtT	p.V1680V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1680					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTCATCGCTGACGTAATCCA	0.458																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(5038-5040)gtC>gtT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							160.0	149.0	153.0					18																	43467785		1963	4173	6136	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43467785G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5040C>T	18.37:g.43467785G>A						EPG5_ENST00000585906.1_5'UTR	p.V1680V	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			29	5074	-			1680					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.5040C>T	CCDS11926.2																																																																																				0.458	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		11	149	0	0	0	1	0	11	149				
BAI2	576	broad.mit.edu	37	1	32210257	32210257	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:32210257G>A	ENST00000373658.3	-	5	1255	c.914C>T	c.(913-915)gCg>gTg	p.A305V	BAI2_ENST00000398547.1_Missense_Mutation_p.A293V|BAI2_ENST00000527361.1_Missense_Mutation_p.A305V|BAI2_ENST00000398538.1_Missense_Mutation_p.A293V|BAI2_ENST00000440175.2_Missense_Mutation_p.A2V|BAI2_ENST00000373655.2_Missense_Mutation_p.A305V|BAI2_ENST00000257070.4_Missense_Mutation_p.A305V|BAI2_ENST00000398542.1_Missense_Mutation_p.A293V|BAI2_ENST00000398556.3_Missense_Mutation_p.A308V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	305					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCTGTCTGCGCCATGTATAG	0.632																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(913-915)gCg>gTg		brain-specific angiogenesis inhibitor 2							91.0	77.0	82.0					1																	32210257		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32210257G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.914C>T	1.37:g.32210257G>A	ENSP00000362762:p.Ala305Val					BAI2_ENST00000527361.1_Missense_Mutation_p.A305V|BAI2_ENST00000440175.2_Missense_Mutation_p.A2V|BAI2_ENST00000398538.1_Missense_Mutation_p.A293V|BAI2_ENST00000398542.1_Missense_Mutation_p.A293V|BAI2_ENST00000398547.1_Missense_Mutation_p.A293V|BAI2_ENST00000398556.3_Missense_Mutation_p.A308V|BAI2_ENST00000257070.4_Missense_Mutation_p.A305V|BAI2_ENST00000373655.2_Missense_Mutation_p.A305V	p.A305V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	5	1255	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	305					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.914C>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164548	0.78339	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.47177	1.43;1.63;0.89;0.89;1.81;0.85;0.85;1.57;0.91;1.43;1.31	4.4	4.4	0.53042	.	0.000000	0.33916	N	0.004428	T	0.54240	0.1846	N	0.24115	0.695	0.23030	N	0.998403	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.991;0.995;0.999;0.995	D;D;P;P;P;D;P	0.85130	0.997;0.98;0.894;0.599;0.787;0.968;0.787	T	0.50110	-0.8866	10	0.62326	D	0.03	.	14.2951	0.66308	0.0:0.0:1.0:0.0	.	293;305;293;2;293;305;305	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	308;293;305;305;293;305;305;2;293;298;339	ENSP00000381564:A308V;ENSP00000381555:A293V;ENSP00000362762:A305V;ENSP00000362759:A305V;ENSP00000381550:A293V;ENSP00000257070:A305V;ENSP00000435397:A305V;ENSP00000391071:A2V;ENSP00000381548:A293V;ENSP00000410921:A298V;ENSP00000437219:A339V	ENSP00000257070:A305V	A	-	2	0	BAI2	31982844	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	5.460000	0.66691	2.172000	0.68678	0.313000	0.20887	GCG		0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		4	26	0	0	0	1	0	4	26				
KIAA1407	57577	broad.mit.edu	37	3	113697717	113697717	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:113697717C>T	ENST00000295878.3	-	15	2594	c.2448G>A	c.(2446-2448)caG>caA	p.Q816Q	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	816										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTAGCCAGCTCTGGATGACTC	0.428																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2446-2448)caG>caA		KIAA1407							195.0	192.0	193.0					3																	113697717		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113697717C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2448G>A	3.37:g.113697717C>T						KIAA1407_ENST00000545063.1_3'UTR	p.Q816Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			15	2594	-			816					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2448G>A	CCDS2977.1																																																																																				0.428	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		14	202	0	0	0	1	0	14	202				
KCNH5	27133	broad.mit.edu	37	14	63174643	63174643	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:63174643C>T	ENST00000322893.7	-	11	2818	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	850					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCACACTGTTCTCTGAATCAC	0.453																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2548-2550)gaG>gaA		potassium voltage-gated channel, subfamily H (eag-related), member 5							165.0	151.0	156.0					14																	63174643		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174643C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2550G>A	14.37:g.63174643C>T						KCNH5_ENST00000420622.2_3'UTR	p.E850E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2818	-			850					C9JP98	Silent	SNP	ENST00000322893.7	37	c.2550G>A	CCDS9756.1																																																																																				0.453	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		5	217	0	0	0	1	0	5	217				
SDPR	8436	broad.mit.edu	37	2	192701254	192701254	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:192701254C>T	ENST00000304141.4	-	2	1002	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCCCTACTTTCTTCCACCTTT	0.488																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(673-675)Gaa>Aaa		serum deprivation response	Phosphatidylserine(DB00144)						129.0	135.0	133.0					2																	192701254		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701254C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.673G>A	2.37:g.192701254C>T	ENSP00000305675:p.Glu225Lys						p.E225K	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1002	-			225						Missense_Mutation	SNP	ENST00000304141.4	37	c.673G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424264	0.43020	.	.	ENSG00000168497	ENST00000304141	T	0.61859	0.07	5.01	5.01	0.66863	.	0.174150	0.50627	D	0.000118	T	0.47746	0.1462	L	0.48362	1.52	0.43317	D	0.995335	P	0.37731	0.607	B	0.30782	0.12	T	0.51348	-0.8717	10	0.42905	T	0.14	-22.9652	14.1681	0.65490	0.0:0.8504:0.1496:0.0	.	225	O95810	SDPR_HUMAN	K	225	ENSP00000305675:E225K	ENSP00000305675:E225K	E	-	1	0	SDPR	192409499	0.998000	0.40836	0.995000	0.50966	0.043000	0.13939	1.989000	0.40707	2.628000	0.89032	0.563000	0.77884	GAA		0.488	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		10	201	0	0	0	1	0	10	201				
ADM	133	broad.mit.edu	37	11	10327878	10327878	+	Splice_Site	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:10327878G>A	ENST00000528655.1	+	3	865		c.e3-1		ADM_ENST00000526492.1_Silent_p.Q93Q|ADM_ENST00000530439.1_Missense_Mutation_p.S15N|ADM_ENST00000525063.1_Splice_Site|ADM_ENST00000278175.5_Splice_Site|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000534464.1_Splice_Site			P35318	ADML_HUMAN	adrenomedullin						aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CCCGCCCGCAGCAGTCCGGAT	0.647																																						ENST00000530439.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(43-45)aGc>aAc		adrenomedullin							18.0	21.0	20.0					11																	10327878		2199	4292	6491	SO:0001630	splice_region_variant	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327878G>A	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.249-1G>A	11.37:g.10327878G>A						ADM_ENST00000526492.1_Silent_p.Q93Q|ADM_ENST00000528655.1_Splice_Site|ADM_ENST00000534464.1_Splice_Site|ADM_ENST00000525063.1_Splice_Site|ADM_ENST00000278175.5_Splice_Site	p.S15N	NM_001124.1	NP_001115.1	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	2	808	+			83					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.44G>A	CCDS7801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.37|13.37	2.218081|2.218081	0.39201|0.39201	.|.	.|.	ENSG00000148926|ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000528655;ENST00000525063|ENST00000530439	.|T	.|0.24538	.|1.85	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42086	.|0.1187	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.03335	.|-1.1047	.|6	.|0.32370	.|T	.|0.25	.|.	17.745|17.745	0.88418|0.88418	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|15	.|ENSP00000436837:S15N	.|ENSP00000436837:S15N	.|S	+|+	.|2	.|0	ADM|ADM	10284454|10284454	1.000000|1.000000	0.71417|0.71417	0.394000|0.394000	0.26270|0.26270	0.147000|0.147000	0.21601|0.21601	4.710000|4.710000	0.61873|0.61873	2.633000|2.633000	0.89246|0.89246	0.561000|0.561000	0.74099|0.74099	.|AGC		0.647	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124	Intron	7	35	0	0	0	1	0	7	35				
TGM3	7053	broad.mit.edu	37	20	2321172	2321172	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:2321172C>T	ENST00000381458.5	+	13	2090	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	676					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCCGACTTCTCCTGCAACAAG	0.602																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(2026-2028)tCc>tTc		transglutaminase 3	L-Glutamine(DB00130)						140.0	106.0	117.0					20																	2321172		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2321172C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.2027C>T	20.37:g.2321172C>T	ENSP00000370867:p.Ser676Phe						p.S676F	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			13	2090	+			676					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.2027C>T	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789740	0.70337	.	.	ENSG00000125780	ENST00000381458	T	0.70516	-0.49	4.68	4.68	0.58851	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.187189	0.47852	D	0.000202	D	0.82495	0.5049	M	0.73962	2.25	0.52501	D	0.999956	D	0.89917	1.0	D	0.97110	1.0	D	0.84029	0.0358	10	0.62326	D	0.03	-9.6458	12.9733	0.58525	0.0:1.0:0.0:0.0	.	676	Q08188	TGM3_HUMAN	F	676	ENSP00000370867:S676F	ENSP00000370867:S676F	S	+	2	0	TGM3	2269172	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.153000	0.58118	2.427000	0.82271	0.655000	0.94253	TCC		0.602	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		6	93	0	0	0	1	0	6	93				
PRRG1	5638	broad.mit.edu	37	X	37285197	37285197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:37285197G>A	ENST00000542554.1	+	4	387	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PRRG1_ENST00000463135.1_Missense_Mutation_p.E39K|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.E39K|PRRG1_ENST00000543642.1_Missense_Mutation_p.E39K|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E39K|PRRG1_ENST00000378628.4_Missense_Mutation_p.E39K	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	39	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAGTGCAAAGAAGAATTCTG	0.368																																						ENST00000542554.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(115-117)Gaa>Aaa		proline rich Gla (G-carboxyglutamic acid) 1							57.0	55.0	56.0					X																	37285197		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37285197G>A	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.115G>A	X.37:g.37285197G>A	ENSP00000444278:p.Glu39Lys					PRRG1_ENST00000463135.1_Missense_Mutation_p.E39K|PRRG1_ENST00000543642.1_Missense_Mutation_p.E39K|PRRG1_ENST00000449135.2_Missense_Mutation_p.E39K|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E39K|PRRG1_ENST00000378628.4_Missense_Mutation_p.E39K|PRRG1_ENST00000491253.1_Intron	p.E39K	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			4	387	+			39			Gla.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.115G>A	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.264832	0.80358	.	.	ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000250349	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135;ENST00000463135;ENST00000465127	D;D;D;D;D;D;D;D	0.99586	-6.23;-6.23;-6.23;-6.23;-6.23;-6.23;-6.23;-6.23	4.94	3.14	0.36123	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.101323	0.64402	N	0.000003	D	0.99539	0.9835	M	0.91717	3.235	0.46499	D	0.999072	P	0.51791	0.948	D	0.66196	0.942	D	0.99612	1.0981	10	0.87932	D	0	-12.5454	6.9398	0.24486	0.0963:0.0:0.7308:0.1729	.	39	O14668	TMG1_HUMAN	K	39	ENSP00000367894:E39K;ENSP00000418384:E39K;ENSP00000444278:E39K;ENSP00000443271:E39K;ENSP00000420353:E39K;ENSP00000390332:E39K;ENSP00000419999:E39K;ENSP00000417050:E39K	ENSP00000367894:E39K	E	+	1	0	RP5-972B16.2;PRRG1	37170118	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	8.178000	0.89690	0.321000	0.23259	0.544000	0.68410	GAA		0.368	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		7	40	0	0	0	1	0	7	40				
UBA2	10054	broad.mit.edu	37	19	34929559	34929559	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:34929559G>A	ENST00000246548.4	+	6	539	c.469G>A	c.(469-471)Gag>Aag	p.E157K	UBA2_ENST00000439527.2_Missense_Mutation_p.E61K	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	157					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGGTGTGACCGAGTGTTATGA	0.398																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(181-183)Gag>Aag		ubiquitin-like modifier activating enzyme 2							214.0	188.0	197.0					19																	34929559		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34929559G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.469G>A	19.37:g.34929559G>A	ENSP00000246548:p.Glu157Lys					UBA2_ENST00000246548.4_Missense_Mutation_p.E157K	p.E61K			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	679	+	Esophageal squamous(110;0.162)		157					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.181G>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350654	0.95830	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.32023	1.47;1.47	5.39	5.39	0.77823	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.89214	3.015	0.80722	D	1	D	0.62365	0.991	P	0.59012	0.85	T	0.68217	-0.5467	10	0.72032	D	0.01	-23.8137	17.929	0.88992	0.0:0.0:1.0:0.0	.	157	Q9UBT2	SAE2_HUMAN	K	30;157;61	ENSP00000246548:E157K;ENSP00000437484:E61K	ENSP00000246548:E157K	E	+	1	0	UBA2	39621399	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	9.261000	0.95576	2.520000	0.84964	0.555000	0.69702	GAG		0.398	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		15	206	0	0	0	1	0	15	206				
GAPDH	2597	broad.mit.edu	37	12	6646520	6646520	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:6646520C>T	ENST00000229239.5	+	7	1155	c.489C>T	c.(487-489)gtC>gtT	p.V163V	GAPDH_ENST00000396861.1_Silent_p.V163V|GAPDH_ENST00000396858.1_Silent_p.V121V|GAPDH_ENST00000396856.1_Silent_p.V88V|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396859.1_Silent_p.V163V	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	163					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						TGGCCAAGGTCATCCATGACA	0.577																																						ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(487-489)gtC>gtT		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						60.0	56.0	58.0					12																	6646520		2203	4300	6503	SO:0001819	synonymous_variant	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646520C>T	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.489C>T	12.37:g.6646520C>T						GAPDH_ENST00000396858.1_Silent_p.V121V|GAPDH_ENST00000396861.1_Silent_p.V163V|GAPDH_ENST00000396856.1_Silent_p.V88V|GAPDH_ENST00000396859.1_Silent_p.V163V	p.V163V	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			7	1155	+			163					E7EUT4|P00354|Q53X65	Silent	SNP	ENST00000229239.5	37	c.489C>T	CCDS8549.1																																																																																				0.577	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		5	56	0	0	0	1	0	5	56				
TMEM2	23670	broad.mit.edu	37	9	74360248	74360248	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:74360248C>G	ENST00000377044.4	-	4	1259	c.720G>C	c.(718-720)tgG>tgC	p.W240C	TMEM2_ENST00000377066.5_Missense_Mutation_p.W240C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	240	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCAACAACGTCCACGATGCCT	0.507																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(718-720)tgG>tgC		transmembrane protein 2							106.0	93.0	98.0					9																	74360248		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360248C>G		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.720G>C	9.37:g.74360248C>G	ENSP00000366243:p.Trp240Cys					TMEM2_ENST00000377066.5_Missense_Mutation_p.W240C	p.W240C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1259	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	240			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.720G>C	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861400	0.51482	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.91843	-2.92;-2.92	6.03	6.03	0.97812	G8 domain (2);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97554	1.0094	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	240;240	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	C	240	ENSP00000366243:W240C;ENSP00000366266:W240C	ENSP00000366243:W240C	W	-	3	0	TMEM2	73550068	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	7.238000	0.78173	2.861000	0.98227	0.655000	0.94253	TGG		0.507	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		7	151	0	0	0	1	0	7	151				
CDKL5	6792	broad.mit.edu	37	X	18626935	18626935	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:18626935G>A	ENST00000379989.3	+	14	2234	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	CDKL5_ENST00000379996.3_Missense_Mutation_p.G650E|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	650					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCCAGCCTGGAGAACAGCTC	0.463																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1948-1950)gGa>gAa		cyclin-dependent kinase-like 5							62.0	55.0	57.0					X																	18626935		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18626935G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1949G>A	X.37:g.18626935G>A	ENSP00000369325:p.Gly650Glu					CDKL5_ENST00000379996.3_Missense_Mutation_p.G650E|CDKL5_ENST00000463994.1_3'UTR	p.G650E	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			14	2234	+	Hepatocellular(33;0.183)		650					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1949G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	g	15.84	2.951837	0.53293	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.68903	-0.36;-0.36	5.45	5.45	0.79879	.	0.141060	0.64402	D	0.000005	T	0.61110	0.2321	N	0.24115	0.695	0.25958	N	0.982664	D	0.53619	0.961	P	0.47206	0.541	T	0.61417	-0.7067	10	0.72032	D	0.01	-18.2224	16.8682	0.86034	0.0:0.0:1.0:0.0	.	650	O76039	CDKL5_HUMAN	E	650	ENSP00000369332:G650E;ENSP00000369325:G650E	ENSP00000369325:G650E	G	+	2	0	CDKL5	18536856	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.684000	0.68197	2.295000	0.77249	0.525000	0.51046	GGA		0.463	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		5	35	0	0	0	1	0	5	35				
DEPDC1B	55789	broad.mit.edu	37	5	59982922	59982922	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:59982922G>C	ENST00000265036.5	-	2	248	c.181C>G	c.(181-183)Caa>Gaa	p.Q61E	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q61E|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q34E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	61	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q61K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CCGAAGTTTTGACTGCACCTC	0.488																																						ENST00000265036.5																			1	Substitution - Missense(1)	p.Q61K(1)	ovary(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(181-183)Caa>Gaa		DEP domain containing 1B							103.0	93.0	97.0					5																	59982922		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59982922G>C	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.181C>G	5.37:g.59982922G>C	ENSP00000265036:p.Gln61Glu					DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q34E|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q61E	p.Q61E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			2	248	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	61			DEP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.181C>G	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910337	0.33721	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.20200	2.09;2.09;2.09	5.64	4.77	0.60923	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.422883	0.28448	N	0.015317	T	0.25680	0.0625	L	0.57536	1.79	0.39210	D	0.963309	B;B	0.23806	0.091;0.073	B;B	0.29663	0.105;0.105	T	0.06285	-1.0835	9	.	.	.	-21.1787	16.3686	0.83344	0.0:0.0:0.8671:0.1329	.	61;61	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	E	61;61;34	ENSP00000265036:Q61E;ENSP00000389101:Q61E;ENSP00000438320:Q34E	.	Q	-	1	0	DEPDC1B	60018679	1.000000	0.71417	0.964000	0.40570	0.928000	0.56348	2.351000	0.44071	1.507000	0.48752	0.561000	0.74099	CAA		0.488	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		4	153	0	0	0	1	0	4	153				
UNC45A	55898	broad.mit.edu	37	15	91478818	91478818	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:91478818C>G	ENST00000418476.2	+	2	136	c.96C>G	c.(94-96)ttC>ttG	p.F32L	UNC45A_ENST00000553671.2_3'UTR|AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Missense_Mutation_p.F17L|AC068831.3_ENST00000438890.1_RNA	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	32					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ATGAGCTGTTCAAATGTGGAG	0.682																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(49-51)ttC>ttG		unc-45 homolog A (C. elegans)							54.0	66.0	62.0					15																	91478818		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91478818C>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.96C>G	15.37:g.91478818C>G	ENSP00000407487:p.Phe32Leu					UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Missense_Mutation_p.F32L	p.F17L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		5	886	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		32					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.51C>G	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699886	0.96802	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.60797	0.16;0.16	5.17	5.17	0.71159	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.520172	0.23908	N	0.043365	T	0.75997	0.3926	M	0.75085	2.285	0.80722	D	1	D;D;P;D	0.71674	0.96;0.998;0.922;0.995	P;D;P;D	0.79784	0.695;0.993;0.463;0.985	T	0.78846	-0.2043	10	0.72032	D	0.01	-23.5762	16.5408	0.84384	0.0:1.0:0.0:0.0	.	32;17;32;17	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	L	17;32	ENSP00000377816:F17L;ENSP00000407487:F32L	ENSP00000377816:F17L	F	+	3	2	UNC45A	89279822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.323000	0.52014	2.418000	0.82041	0.555000	0.69702	TTC		0.682	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		7	104	0	0	0	1	0	7	104				
TUBB6	84617	broad.mit.edu	37	18	12325401	12325401	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:12325401G>A	ENST00000317702.5	+	4	847	c.613G>A	c.(613-615)Gag>Aag	p.E205K	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	205					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CATCGACAACGAGGCGCTCTA	0.602																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(613-615)Gag>Aag		tubulin, beta 6 class V							183.0	151.0	162.0					18																	12325401		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325401G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.613G>A	18.37:g.12325401G>A	ENSP00000318697:p.Glu205Lys					TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron	p.E205K			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	847	+			205					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.613G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349596	0.61183	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	T	0.70631	-0.5	5.17	5.17	0.71159	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.85617	0.5738	H	0.94423	3.535	0.80722	D	1	P;P	0.43542	0.672;0.81	P;P	0.50378	0.487;0.639	D	0.89494	0.3759	10	0.87932	D	0	.	19.1108	0.93315	0.0:0.0:1.0:0.0	.	177;205	B4DP54;Q9BUF5	.;TBB6_HUMAN	K	205;133;177	ENSP00000318697:E205K	ENSP00000318697:E205K	E	+	1	0	TUBB6	12315401	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	9.626000	0.98410	2.600000	0.87896	0.449000	0.29647	GAG		0.602	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		4	163	0	0	0	1	0	4	163				
MAPKBP1	23005	broad.mit.edu	37	15	42113896	42113896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:42113896G>A	ENST00000456763.2	+	25	3047	c.2851G>A	c.(2851-2853)Gaa>Aaa	p.E951K	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E945K|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E945K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E784K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E828K	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	951										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGCACCCATTGAAGATGGTAT	0.562																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2833-2835)Gaa>Aaa		mitogen-activated protein kinase binding protein 1							104.0	96.0	98.0					15																	42113896		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42113896G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2851G>A	15.37:g.42113896G>A	ENSP00000393099:p.Glu951Lys					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E945K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E784K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E828K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E951K	p.E945K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	24	3119	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	951					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2833G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.859258	0.51376	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.49720	1.0;1.11;0.77;1.05;1.17	5.58	5.58	0.84498	.	0.232883	0.43919	D	0.000513	T	0.47002	0.1422	N	0.17082	0.46	0.37275	D	0.907585	P;P;P;B;P;D	0.76494	0.724;0.748;0.799;0.319;0.677;0.999	B;B;B;B;B;D	0.85130	0.41;0.319;0.413;0.069;0.16;0.997	T	0.38394	-0.9663	10	0.06625	T	0.88	-14.1002	12.5308	0.56113	0.077:0.0:0.923:0.0	.	784;828;784;945;951;945	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	K	945;828;784;951;945	ENSP00000397570:E945K;ENSP00000221214:E828K;ENSP00000260357:E784K;ENSP00000393099:E951K;ENSP00000426154:E945K	ENSP00000221214:E828K	E	+	1	0	MAPKBP1	39901188	1.000000	0.71417	0.994000	0.49952	0.241000	0.25554	4.843000	0.62838	2.636000	0.89361	0.457000	0.33378	GAA		0.562	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		8	78	0	0	0	1	0	8	78				
TNFAIP8L3	388121	broad.mit.edu	37	15	51350317	51350317	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:51350317C>G	ENST00000327536.5	-	3	739	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	214										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAGGTGTATTCCACCTCATAG	0.547																																						ENST00000327536.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11						c.(640-642)Gaa>Caa		tumor necrosis factor, alpha-induced protein 8-like 3							111.0	93.0	99.0					15																	51350317		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51350317C>G	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.640G>C	15.37:g.51350317C>G	ENSP00000328016:p.Glu214Gln					RP11-108K3.1_ENST00000559909.1_lincRNA	p.E214Q	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	3	739	-			214					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.640G>C	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298757	0.81025	.	.	ENSG00000183578	ENST00000327536	T	0.35421	1.31	5.55	5.55	0.83447	.	0.089058	0.85682	D	0.000000	T	0.61578	0.2358	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.64101	-0.6486	10	0.66056	D	0.02	-1.2595	18.4856	0.90828	0.0:1.0:0.0:0.0	.	214	Q5GJ75	TP8L3_HUMAN	Q	214	ENSP00000328016:E214Q	ENSP00000328016:E214Q	E	-	1	0	TNFAIP8L3	49137609	1.000000	0.71417	0.877000	0.34402	0.787000	0.44495	7.747000	0.85070	2.603000	0.88011	0.557000	0.71058	GAA		0.547	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		8	112	0	0	0	1	0	8	112				
ANKRD12	23253	broad.mit.edu	37	18	9254483	9254483	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:9254483C>T	ENST00000262126.4	+	9	1458	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	ANKRD12_ENST00000400020.3_Silent_p.F383F|ANKRD12_ENST00000383440.2_Silent_p.F383F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	406						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAAAGCCTTCTATCCTAAAT	0.308																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(1147-1149)ttC>ttT		ankyrin repeat domain 12							69.0	78.0	75.0					18																	9254483		2202	4297	6499	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9254483C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1218C>T	18.37:g.9254483C>T						ANKRD12_ENST00000400020.3_Silent_p.F383F|ANKRD12_ENST00000262126.3_Silent_p.F406F	p.F383F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	1406	+			406					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.1149C>T	CCDS11843.1																																																																																				0.308	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		8	129	0	0	0	1	0	8	129				
ARHGEF28	64283	broad.mit.edu	37	5	73091192	73091192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:73091192G>T	ENST00000426542.2	+	8	1020	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000545377.1_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.E334*			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	334					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAATGAACATGAAGACCAGCA	0.388																																						ENST00000545377.1																			0											c.(1000-1002)Gaa>Taa		Rho guanine nucleotide exchange factor (GEF) 28							154.0	152.0	152.0					5																	73091192		1855	4115	5970	SO:0001587	stop_gained	64283							g.chr5:73091192G>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1000G>T	5.37:g.73091192G>T	ENSP00000412175:p.Glu334*					ARHGEF28_ENST00000426542.2_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.E334*	p.E334*	NM_001080479.2	NP_001073948.2					9	1176	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Nonsense_Mutation	SNP	ENST00000426542.2	37	c.1000G>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726422	0.89298	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542	.	.	.	5.01	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	9.5706	0.39425	0.0985:0.0:0.9015:0.0	.	.	.	.	X	334	.	ENSP00000287898:E334X	E	+	1	0	RP11-428C6.1	73126948	0.992000	0.36948	0.483000	0.27378	0.144000	0.21451	3.198000	0.51035	1.229000	0.43630	0.655000	0.94253	GAA		0.388	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			10	131	1	0	3.07112e-06	1	3.13498e-06	10	131				
ELP3	55140	broad.mit.edu	37	8	27987062	27987062	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:27987062G>C	ENST00000256398.8	+	8	1038	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	ELP3_ENST00000521015.1_Missense_Mutation_p.E207Q|ELP3_ENST00000542181.1_Missense_Mutation_p.E92Q|ELP3_ENST00000524103.1_Missense_Mutation_p.E149Q|ELP3_ENST00000537665.1_Missense_Mutation_p.E102Q|ELP3_ENST00000380353.4_Missense_Mutation_p.E129Q	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	221					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AATTACTATTGAAACCAGACC	0.398																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(661-663)Gaa>Caa		elongator acetyltransferase complex subunit 3							172.0	166.0	168.0					8																	27987062		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27987062G>C		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.661G>C	8.37:g.27987062G>C	ENSP00000256398:p.Glu221Gln					ELP3_ENST00000380353.4_Missense_Mutation_p.E129Q|ELP3_ENST00000521015.1_Missense_Mutation_p.E207Q|ELP3_ENST00000537665.1_Missense_Mutation_p.E102Q|ELP3_ENST00000542181.1_Missense_Mutation_p.E92Q|ELP3_ENST00000524103.1_Missense_Mutation_p.E149Q	p.E221Q	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	8	1038	+		Ovarian(32;0.0218)	221					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.661G>C	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767771	0.90020	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000524024;ENST00000537665;ENST00000380353	T;T;T;T;T;T	0.80653	-1.4;-1.4;1.43;-1.4;1.43;-1.4	4.53	4.53	0.55603	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	M	0.93978	3.48	0.80722	D	1	D;P	0.89917	1.0;0.767	D;P	0.87578	0.998;0.733	D	0.93577	0.6909	10	0.66056	D	0.02	-22.0282	15.1555	0.72739	0.0:0.0:1.0:0.0	.	102;221	B4DE19;Q9H9T3	.;ELP3_HUMAN	Q	207;221;92;149;164;102;129	ENSP00000428449:E207Q;ENSP00000256398:E221Q;ENSP00000439242:E92Q;ENSP00000429180:E149Q;ENSP00000445558:E102Q;ENSP00000369711:E129Q	ENSP00000256398:E221Q	E	+	1	0	ELP3	28042981	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.278000	0.95766	2.505000	0.84491	0.655000	0.94253	GAA		0.398	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		4	160	0	0	0	1	0	4	160				
BAI3	577	broad.mit.edu	37	6	70048882	70048882	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:70048882C>T	ENST00000370598.1	+	25	4084	c.3263C>T	c.(3262-3264)tCa>tTa	p.S1088L	BAI3_ENST00000238918.8_Missense_Mutation_p.S294L|BAI3_ENST00000546190.1_Missense_Mutation_p.S52L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1088					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGCTTTGTCAGCCACCACC	0.418																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3262-3264)tCa>tTa		brain-specific angiogenesis inhibitor 3							136.0	136.0	136.0					6																	70048882		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70048882C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3263C>T	6.37:g.70048882C>T	ENSP00000359630:p.Ser1088Leu					BAI3_ENST00000546190.1_Missense_Mutation_p.S52L|BAI3_ENST00000238918.8_Missense_Mutation_p.S294L	p.S1088L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			25	4084	+		all_lung(197;0.212)	1088					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3263C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053880	0.93793	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.49432	1.97;2.6;0.78	5.98	5.98	0.97165	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	L	0.40543	1.245	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.99	D;D;P	0.78314	0.991;0.991;0.903	T	0.55872	-0.8072	10	0.59425	D	0.04	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	294;1088;1088	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	L	1088;294;52	ENSP00000359630:S1088L;ENSP00000238918:S294L;ENSP00000441821:S52L	ENSP00000238918:S294L	S	+	2	0	BAI3	70105603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	TCA		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			8	200	0	0	0	1	0	8	200				
SENP5	205564	broad.mit.edu	37	3	196650379	196650379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:196650379C>G	ENST00000323460.5	+	7	2228	c.1979C>G	c.(1978-1980)tCa>tGa	p.S660*	SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*|SENP5_ENST00000445299.2_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	660	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CGAATTATTTCATTTTATGAT	0.333																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(1978-1980)tCa>tGa		SUMO1/sentrin specific peptidase 5							144.0	139.0	141.0					3																	196650379		2202	4300	6502	SO:0001587	stop_gained	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196650379C>G	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1979C>G	3.37:g.196650379C>G	ENSP00000327197:p.Ser660*					SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*	p.S660*	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	7	2228	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		660			Protease.		B4DY82|Q96SA5	Nonsense_Mutation	SNP	ENST00000323460.5	37	c.1979C>G	CCDS3322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.021719|9.021719	0.99038|0.99038	.|.	.|.	ENSG00000119231|ENSG00000119231	ENST00000448068|ENST00000323460;ENST00000419026	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.261958	.|0.38436	.|N	.|0.001690	T|.	0.67822|.	0.2934|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73694|.	-0.3902|.	3|.	.|0.45353	.|T	.|0.12	-0.7848|-0.7848	15.4162|15.4162	0.74970|0.74970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	31|660;150	.|.	.|ENSP00000327197:S660X	H|S	+|+	1|2	0|0	SENP5|SENP5	198134776|198134776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.856000|2.856000	0.48341|0.48341	2.305000|2.305000	0.77605|0.77605	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.333	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		7	156	0	0	0	1	0	7	156				
IMP4	92856	broad.mit.edu	37	2	131102966	131102966	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:131102966G>C	ENST00000259239.3	+	4	922	c.214G>C	c.(214-216)Gat>Cat	p.D72H	IMP4_ENST00000409935.1_Missense_Mutation_p.D72H	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	72					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CAGCCACGTGGATGATGAATA	0.547																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(214-216)Gat>Cat		IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)							84.0	72.0	76.0					2																	131102966		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131102966G>C	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.214G>C	2.37:g.131102966G>C	ENSP00000259239:p.Asp72His					IMP4_ENST00000409935.1_Missense_Mutation_p.D72H	p.D72H	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			4	922	+	Colorectal(110;0.1)		72					Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.214G>C	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.411506|4.411506	0.83340|0.83340	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000428740|ENST00000452955	T;T;T|.	0.60171|.	0.68;0.7;0.21|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86636|0.86636	0.5980|0.5980	H|H	0.94734|0.94734	3.575|3.575	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.90351|0.90351	0.4366|0.4366	10|5	0.87932|.	D|.	0|.	-30.8549|-30.8549	16.1934|16.1934	0.82006|0.82006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72|.	Q96G21|.	IMP4_HUMAN|.	H|C	72;72;17|60	ENSP00000259239:D72H;ENSP00000386411:D72H;ENSP00000389701:D17H|.	ENSP00000259239:D72H|.	D|W	+|+	1|3	0|0	IMP4|IMP4	130819436|130819436	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.959000|0.959000	0.62525|0.62525	8.345000|8.345000	0.90057|0.90057	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.547	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		6	36	0	0	0	1	0	6	36				
MAP3K10	4294	broad.mit.edu	37	19	40715015	40715015	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:40715015G>C	ENST00000253055.3	+	6	1729	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	481					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCAGGCTTTGAGCATAAGAT	0.502																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1441-1443)Gag>Cag		mitogen-activated protein kinase kinase kinase 10							107.0	119.0	115.0					19																	40715015		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40715015G>C	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1441G>C	19.37:g.40715015G>C	ENSP00000253055:p.Glu481Gln						p.E481Q	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			6	1729	+			481					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1441G>C	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764065	0.15914	.	.	ENSG00000130758	ENST00000253055	T	0.72505	-0.66	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	N	0.11892	0.195	0.58432	D	0.999993	B	0.10296	0.003	B	0.12156	0.007	T	0.49283	-0.8956	10	0.02654	T	1	.	16.2993	0.82801	0.0:0.0:1.0:0.0	.	481	Q02779	M3K10_HUMAN	Q	481	ENSP00000253055:E481Q	ENSP00000253055:E481Q	E	+	1	0	MAP3K10	45406855	0.996000	0.38824	0.994000	0.49952	0.926000	0.56050	2.288000	0.43514	2.529000	0.85273	0.555000	0.69702	GAG		0.502	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		11	143	0	0	0	1	0	11	143				
WDR5B	54554	broad.mit.edu	37	3	122134192	122134192	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:122134192C>T	ENST00000330689.4	-	1	690	c.184G>A	c.(184-186)Gat>Aat	p.D62N	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	62										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		ATTAGCCTATCAGCAGAAGAA	0.403																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(184-186)Gat>Aat		WD repeat domain 5B							165.0	165.0	165.0					3																	122134192		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134192C>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.184G>A	3.37:g.122134192C>T	ENSP00000330381:p.Asp62Asn						p.D62N	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	690	-			62					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.184G>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749613	0.89753	.	.	ENSG00000196981	ENST00000330689	D	0.88975	-2.45	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93253	0.6636	10	0.87932	D	0	.	15.4181	0.74987	0.0:1.0:0.0:0.0	.	62	Q86VZ2	WDR5B_HUMAN	N	62	ENSP00000330381:D62N	ENSP00000330381:D62N	D	-	1	0	WDR5B	123616882	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.043000	0.57354	2.575000	0.86900	0.462000	0.41574	GAT		0.403	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		19	312	0	0	0	1	0	19	312				
DNAH3	55567	broad.mit.edu	37	16	21147730	21147730	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:21147730C>T	ENST00000261383.3	-	6	800	c.801G>A	c.(799-801)ctG>ctA	p.L267L	DNAH3_ENST00000415178.1_Silent_p.L267L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	267	Stem. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGACTCGTCAGCAGCGTGT	0.498																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(799-801)ctG>ctA		dynein, axonemal, heavy chain 3							167.0	153.0	158.0					16																	21147730		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21147730C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.801G>A	16.37:g.21147730C>T						DNAH3_ENST00000415178.1_Silent_p.L267L	p.L267L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	6	800	-			267			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.801G>A	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	156	0	0	0	1	0	7	156				
ARHGEF17	9828	broad.mit.edu	37	11	73071382	73071382	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:73071382G>A	ENST00000263674.3	+	11	4574	c.4224G>A	c.(4222-4224)ctG>ctA	p.L1408L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1408					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACGATGCACTGCGGGACCTCT	0.652																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4222-4224)ctG>ctA		Rho guanine nucleotide exchange factor (GEF) 17							76.0	85.0	82.0					11																	73071382		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071382G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4224G>A	11.37:g.73071382G>A							p.L1408L	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			11	4574	+			1408					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4224G>A	CCDS8221.1																																																																																				0.652	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		12	129	0	0	0	1	0	12	129				
NEK7	140609	broad.mit.edu	37	1	198233296	198233296	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:198233296C>T	ENST00000367385.4	+	5	645	c.303C>T	c.(301-303)ttC>ttT	p.F101F	NEK7_ENST00000538004.1_Silent_p.F101F	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						ATGCATCATTCATTGAAGATA	0.313																																						ENST00000367385.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(301-303)ttC>ttT		NIMA-related kinase 7							85.0	93.0	90.0					1																	198233296		2203	4293	6496	SO:0001819	synonymous_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198233296C>T	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.303C>T	1.37:g.198233296C>T						NEK7_ENST00000538004.1_Silent_p.F101F	p.F101F	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN			5	645	+			101			Protein kinase.		A6NGT8	Silent	SNP	ENST00000367385.4	37	c.303C>T	CCDS1394.1																																																																																				0.313	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		10	176	0	0	0	1	0	10	176				
DNAH7	56171	broad.mit.edu	37	2	196664127	196664127	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:196664127C>G	ENST00000312428.6	-	55	10346	c.10246G>C	c.(10246-10248)Gat>Cat	p.D3416H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3416	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.D3416N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCTAAATCAAAGGGGGGT	0.438																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.D3416N(1)	NS(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(10246-10248)Gat>Cat		dynein, axonemal, heavy chain 7							113.0	115.0	114.0					2																	196664127		1881	4112	5993	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196664127C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10246G>C	2.37:g.196664127C>G	ENSP00000311273:p.Asp3416His						p.D3416H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			55	10346	-			3416			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10246G>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114984	0.37339	.	.	ENSG00000118997	ENST00000312428	T	0.12147	2.71	5.2	4.33	0.51752	Dynein heavy chain (1);	0.100319	0.64402	D	0.000003	T	0.54127	0.1839	H	0.98901	4.365	0.80722	D	1	D	0.62365	0.991	D	0.70935	0.971	T	0.73483	-0.3968	10	0.87932	D	0	.	13.3775	0.60747	0.0:0.9238:0.0:0.0762	.	3416	Q8WXX0	DYH7_HUMAN	H	3416	ENSP00000311273:D3416H	ENSP00000311273:D3416H	D	-	1	0	DNAH7	196372372	1.000000	0.71417	0.442000	0.26870	0.081000	0.17604	2.291000	0.43540	1.416000	0.47057	0.650000	0.86243	GAT		0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	161	0	0	0	1	0	8	161				
TMPRSS11A	339967	broad.mit.edu	37	4	68810254	68810254	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:68810254C>T	ENST00000334830.7	-	3	981	c.235G>A	c.(235-237)Gag>Aag	p.E79K	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.E79K|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.E78K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	79	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCGGTCGTCTCTCGTAAGTCC	0.338																																					NSCLC(26;2 894 10941 14480 22546)	ENST00000508048.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(232-234)Gag>Aag		transmembrane protease, serine 11A							174.0	176.0	175.0					4																	68810254		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68810254C>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.235G>A	4.37:g.68810254C>T	ENSP00000334611:p.Glu79Lys					TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.E79K|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.E79K|RP11-453E17.1_ENST00000500538.2_RNA	p.E78K			Q6ZMR5	TM11A_HUMAN			3	267	-			79			SEA.		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.232G>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822702	0.16678	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.28	4.44	0.53790	SEA (1);	0.118924	0.37304	N	0.002154	T	0.29850	0.0746	L	0.57536	1.79	0.24623	N	0.993667	B;P	0.35192	0.31;0.489	B;B	0.34093	0.049;0.175	T	0.15065	-1.0450	10	0.12103	T	0.63	.	9.5024	0.39026	0.0:0.9061:0.0:0.0939	.	79;79	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	K	78;79;79;59	ENSP00000426911:E78K;ENSP00000334611:E79K;ENSP00000379491:E79K;ENSP00000427621:E59K	ENSP00000334611:E79K	E	-	1	0	TMPRSS11A	68492849	0.663000	0.27448	0.148000	0.22405	0.471000	0.32888	1.915000	0.39976	1.464000	0.47987	0.655000	0.94253	GAG		0.338	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		4	124	0	0	0	1	0	4	124				
CSRNP2	81566	broad.mit.edu	37	12	51467818	51467818	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51467818G>A	ENST00000228515.1	-	3	496	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	67					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TGGTCAAAGCGTACATTCTTC	0.493																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(199-201)Cgc>Tgc		cysteine-serine-rich nuclear protein 2							80.0	83.0	82.0					12																	51467818		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467818G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.199C>T	12.37:g.51467818G>A	ENSP00000228515:p.Arg67Cys						p.R67C	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	496	-			67						Missense_Mutation	SNP	ENST00000228515.1	37	c.199C>T	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054525	0.93793	.	.	ENSG00000110925	ENST00000228515;ENST00000548981;ENST00000552899	T;T	0.15718	2.4;2.4	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.46741	1.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01169	-1.1430	10	0.41790	T	0.15	-18.2207	17.5844	0.87977	0.0:0.0:1.0:0.0	.	67	Q9H175	CSRN2_HUMAN	C	67	ENSP00000228515:R67C;ENSP00000447657:R67C	ENSP00000228515:R67C	R	-	1	0	CSRNP2	49754085	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	9.539000	0.98076	2.755000	0.94549	0.655000	0.94253	CGC		0.493	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			12	113	0	0	0	1	0	12	113				
NFE2L1	4779	broad.mit.edu	37	17	46128846	46128846	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:46128846C>T	ENST00000362042.3	+	2	982	c.366C>T	c.(364-366)ctC>ctT	p.L122L	NFE2L1_ENST00000585291.1_Silent_p.L122L|NFE2L1_ENST00000361665.3_Silent_p.L122L|NFE2L1_ENST00000357480.5_Silent_p.L122L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	122					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTCAGGCCTCGCCCTCGAGA	0.592																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(364-366)ctC>ctT		nuclear factor, erythroid 2-like 1							59.0	64.0	62.0					17																	46128846		2203	4300	6503	SO:0001819	synonymous_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128846C>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.366C>T	17.37:g.46128846C>T						NFE2L1_ENST00000357480.5_Silent_p.L122L|NFE2L1_ENST00000585291.1_Silent_p.L122L|NFE2L1_ENST00000361665.3_Silent_p.L122L	p.L122L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			2	982	+			122					D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	c.366C>T	CCDS11524.1																																																																																				0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		4	87	0	0	0	1	0	4	87				
GALR1	2587	broad.mit.edu	37	18	74963085	74963085	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:74963085C>T	ENST00000299727.3	+	1	581	c.581C>T	c.(580-582)cCt>cTt	p.P194L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGCCCGACCCTCGCCACAAG	0.662																																						ENST00000299727.3																			2	Substitution - Missense(2)	p.P194N(2)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(580-582)cCt>cTt		galanin receptor 1							68.0	71.0	70.0					18																	74963085		2203	4298	6501	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74963085C>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.581C>T	18.37:g.74963085C>T	ENSP00000299727:p.Pro194Leu						p.P194L	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	581	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	194					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.581C>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	2.657	-0.280619	0.05642	.	.	ENSG00000166573	ENST00000299727	T	0.36520	1.25	4.59	-4.12	0.03916	GPCR, rhodopsin-like superfamily (1);	0.744776	0.13177	N	0.407834	T	0.29684	0.0741	L	0.48986	1.54	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25398	-1.0133	10	0.36615	T	0.2	.	14.4178	0.67163	0.1581:0.7462:0.0:0.0957	.	194	P47211	GALR1_HUMAN	L	194	ENSP00000299727:P194L	ENSP00000299727:P194L	P	+	2	0	GALR1	73092073	0.000000	0.05858	0.010000	0.14722	0.083000	0.17756	-0.073000	0.11468	-0.609000	0.05724	-0.293000	0.09583	CCT		0.662	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			6	131	0	0	0	1	0	6	131				
S1PR1	1901	broad.mit.edu	37	1	101704651	101704651	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:101704651C>T	ENST00000305352.6	+	2	486	c.111C>T	c.(109-111)atC>atT	p.I37I	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	37					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AGCTGAATATCAGCGCGGACA	0.502											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(109-111)atC>atT		sphingosine-1-phosphate receptor 1							115.0	109.0	111.0					1																	101704651		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704651C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.111C>T	1.37:g.101704651C>T			OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_ENST00000475821.1_3'UTR	p.I37I	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	486	+			37					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.111C>T	CCDS777.1																																																																																				0.502	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		4	79	0	0	0	1	0	4	79				
PAPD4	167153	broad.mit.edu	37	5	78936984	78936984	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:78936984G>A	ENST00000296783.3	+	7	936	c.637G>A	c.(637-639)Gat>Aat	p.D213N	PAPD4_ENST00000504233.1_Missense_Mutation_p.D213N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D213N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D213N|PAPD4_ENST00000453514.1_Missense_Mutation_p.D213N			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	213					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCGGAGCAGTGATGGTGATTT	0.323																																						ENST00000453514.1																			0				biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(637-639)Gat>Aat		PAP associated domain containing 4							214.0	222.0	219.0					5																	78936984		2203	4300	6503	SO:0001583	missense	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78936984G>A	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.637G>A	5.37:g.78936984G>A	ENSP00000296783:p.Asp213Asn					PAPD4_ENST00000504233.1_Missense_Mutation_p.D213N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D213N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D213N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D213N	p.D213N	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	6	1330	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	213					Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	c.637G>A	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609461	0.96637	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98356	1.0546	10	0.87932	D	0	-14.16	20.275	0.98485	0.0:0.0:1.0:0.0	.	213;213;213	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	N	213	ENSP00000397563:D213N;ENSP00000393412:D213N;ENSP00000421966:D213N;ENSP00000396861:D213N;ENSP00000296783:D213N	ENSP00000296783:D213N	D	+	1	0	PAPD4	78972740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.504000	0.97986	2.800000	0.96347	0.455000	0.32223	GAT		0.323	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		11	358	0	0	0	1	0	11	358				
FOXP1	27086	broad.mit.edu	37	3	71027029	71027029	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:71027029C>T	ENST00000318789.4	-	15	1823	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	FOXP1_ENST00000493089.1_Missense_Mutation_p.G433E|FOXP1_ENST00000498215.1_Missense_Mutation_p.G433E|FOXP1_ENST00000491238.1_Missense_Mutation_p.G435E|FOXP1_ENST00000484350.1_Missense_Mutation_p.G357E|FOXP1_ENST00000475937.1_Missense_Mutation_p.G433E|FOXP1_ENST00000468577.1_Missense_Mutation_p.G433E	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	433					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCGGATGGGTCCCACCGTGTG	0.552			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1297-1299)gGa>gAa		forkhead box P1							174.0	158.0	164.0					3																	71027029		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71027029C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1298G>A	3.37:g.71027029C>T	ENSP00000318902:p.Gly433Glu					FOXP1_ENST00000498215.1_Missense_Mutation_p.G433E|FOXP1_ENST00000491238.1_Missense_Mutation_p.G435E|FOXP1_ENST00000493089.1_Missense_Mutation_p.G433E|FOXP1_ENST00000468577.1_Missense_Mutation_p.G433E|FOXP1_ENST00000484350.1_Missense_Mutation_p.G357E|FOXP1_ENST00000475937.1_Missense_Mutation_p.G433E	p.G433E	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1823	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	433					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1298G>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599934	0.87055	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.992;0.997	D;D;D;D;D	0.78314	0.991;0.951;0.951;0.922;0.946	T	0.64326	-0.6434	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	433;432;433;357;433	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	E	433;245;433;433;329;435;433;433;357;433	ENSP00000318902:G433E;ENSP00000419393:G433E;ENSP00000418225:G329E;ENSP00000420736:G435E;ENSP00000418524:G433E;ENSP00000418102:G433E;ENSP00000417857:G357E;ENSP00000418883:G433E	ENSP00000318902:G433E	G	-	2	0	FOXP1	71109719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.770000	0.68873	2.854000	0.98071	0.655000	0.94253	GGA		0.552	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		12	195	0	0	0	1	0	12	195				
FGL1	2267	broad.mit.edu	37	8	17722252	17722252	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:17722252G>C	ENST00000398056.2	-	10	1603	c.788C>G	c.(787-789)tCt>tGt	p.S263C	FGL1_ENST00000518650.1_Missense_Mutation_p.S263C|FGL1_ENST00000381840.2_Missense_Mutation_p.S263C|FGL1_ENST00000522444.1_Missense_Mutation_p.S263C|FGL1_ENST00000427924.1_Missense_Mutation_p.S263C|FGL1_ENST00000398054.1_Missense_Mutation_p.S263C|FGL1_ENST00000381841.2_Missense_Mutation_p.S263C			Q08830	FGL1_HUMAN	fibrinogen-like 1	263	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAGGTTTGCAGAGTGACACCT	0.408																																						ENST00000398056.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(787-789)tCt>tGt		fibrinogen-like 1							60.0	61.0	60.0					8																	17722252		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17722252G>C	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.788C>G	8.37:g.17722252G>C	ENSP00000381133:p.Ser263Cys					FGL1_ENST00000381840.2_Missense_Mutation_p.S263C|FGL1_ENST00000522444.1_Missense_Mutation_p.S263C|FGL1_ENST00000381841.2_Missense_Mutation_p.S263C|FGL1_ENST00000518650.1_Missense_Mutation_p.S263C|FGL1_ENST00000427924.1_Missense_Mutation_p.S263C|FGL1_ENST00000398054.1_Missense_Mutation_p.S263C	p.S263C			Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	10	1603	-			263			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.788C>G	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506056	0.85282	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.58	5.58	0.84498	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.156943	0.64402	D	0.000016	D	0.90988	0.7166	M	0.90922	3.16	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77557	0.974;0.99;0.924	D	0.91889	0.5522	10	0.62326	D	0.03	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	233;263;263	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	C	263;263;233;263;263;263;263;263;263	ENSP00000381133:S263C;ENSP00000429757:S263C;ENSP00000371263:S263C;ENSP00000401952:S263C;ENSP00000381131:S263C;ENSP00000371262:S263C;ENSP00000428430:S263C	ENSP00000221204:S263C	S	-	2	0	FGL1	17766532	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.437000	0.97535	2.793000	0.96121	0.655000	0.94253	TCT		0.408	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		8	38	0	0	0	1	0	8	38				
APOA4	337	broad.mit.edu	37	11	116692523	116692523	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:116692523G>A	ENST00000357780.3	-	3	365	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	84	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		cagctcggtggcaaagggcac	0.602																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(250-252)gCc>gTc		apolipoprotein A-IV							88.0	78.0	82.0					11																	116692523		2201	4294	6495	SO:0001583	missense	337							g.chr11:116692523G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.251C>T	11.37:g.116692523G>A	ENSP00000350425:p.Ala84Val						p.A84V	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	365	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.251C>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261268	0.39995	.	.	ENSG00000110244	ENST00000357780	T	0.78707	-1.2	5.17	3.3	0.37823	Apolipoprotein/apolipophorin (1);	0.675478	0.14162	N	0.337326	T	0.76212	0.3956	M	0.69463	2.115	0.34353	D	0.690042	B	0.29835	0.258	B	0.36244	0.22	T	0.74241	-0.3729	10	0.25751	T	0.34	-2.5887	10.7256	0.46066	0.1554:0.0:0.8446:0.0	.	84	P06727	APOA4_HUMAN	V	84	ENSP00000350425:A84V	ENSP00000350425:A84V	A	-	2	0	APOA4	116197733	0.899000	0.30636	0.084000	0.20598	0.869000	0.49853	2.473000	0.45145	0.581000	0.29539	0.462000	0.41574	GCC		0.602	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		10	130	0	0	0	1	0	10	130				
CSMD2	114784	broad.mit.edu	37	1	34066517	34066517	+	Silent	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:34066517G>C	ENST00000373380.1	-	23	3643	c.3423C>G	c.(3421-3423)ctC>ctG	p.L1141L	CSMD2_ENST00000373388.2_Silent_p.L367L|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373381.4_Silent_p.L2268L|CSMD2_ENST00000373377.1_Silent_p.L367L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2270	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)				GGTGGAACTTGAGCAGGACCT	0.582																																						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.(6802-6804)ctC>ctG		CUB and Sushi multiple domains 2							226.0	194.0	205.0					1																	34066517		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34066517G>C	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.3423C>G	1.37:g.34066517G>C						CSMD2_ENST00000373377.1_Silent_p.L367L|CSMD2_ENST00000373380.1_Silent_p.L1141L|CSMD2_ENST00000373388.2_Silent_p.L367L|CSMD2_ENST00000489419.1_5'UTR	p.L2268L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			44	6980	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2270			CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.6804C>G																																																																																					0.582	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		9	172	0	0	0	1	0	9	172				
NEK1	4750	broad.mit.edu	37	4	170400599	170400599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:170400599C>T	ENST00000439128.2	-	22	2650	c.2010G>A	c.(2008-2010)atG>atA	p.M670I	NEK1_ENST00000512193.1_Missense_Mutation_p.M601I|NEK1_ENST00000511633.1_Missense_Mutation_p.M654I|NEK1_ENST00000507142.1_Missense_Mutation_p.M698I|NEK1_ENST00000510533.1_Missense_Mutation_p.M626I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	670					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TAACAGATCTCATCTGTTGCT	0.378																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(2008-2010)atG>atA		NIMA-related kinase 1							68.0	67.0	67.0					4																	170400599		1853	4087	5940	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170400599C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2010G>A	4.37:g.170400599C>T	ENSP00000408020:p.Met670Ile					NEK1_ENST00000511633.1_Missense_Mutation_p.M654I|NEK1_ENST00000512193.1_Missense_Mutation_p.M601I|NEK1_ENST00000510533.1_Missense_Mutation_p.M626I|NEK1_ENST00000507142.1_Missense_Mutation_p.M698I	p.M670I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	22	2650	-		Prostate(90;0.00601)|Renal(120;0.0183)	670					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.2010G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	1.562	-0.536359	0.04082	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.66815	-0.22;-0.22;-0.22;-0.23;-0.22	4.83	-0.0479	0.13841	.	0.965735	0.08567	N	0.926644	T	0.42245	0.1194	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.001	T	0.21143	-1.0254	10	0.13108	T	0.6	.	3.561	0.07882	0.1247:0.5585:0.123:0.1938	.	601;654;698;626;670	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	I	670;654;626;698;601	ENSP00000408020:M670I;ENSP00000423332:M654I;ENSP00000427653:M626I;ENSP00000424757:M698I;ENSP00000424938:M601I	ENSP00000408020:M670I	M	-	3	0	NEK1	170637174	0.000000	0.05858	0.012000	0.15200	0.520000	0.34377	-0.665000	0.05286	0.161000	0.19458	0.484000	0.47621	ATG		0.378	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			9	110	0	0	0	1	0	9	110				
DZIP1	22873	broad.mit.edu	37	13	96238340	96238340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:96238340G>A	ENST00000376829.2	-	21	3120	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	DZIP1_ENST00000361156.3_Missense_Mutation_p.R738C|DZIP1_ENST00000361396.2_Missense_Mutation_p.R738C|DZIP1_ENST00000347108.3_Missense_Mutation_p.R757C	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	757					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ACATTTTTGCGATGTGGAAAC	0.318																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2269-2271)Cgc>Tgc		DAZ interacting zinc finger protein 1							157.0	149.0	151.0					13																	96238340		2202	4300	6502	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96238340G>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2269C>T	13.37:g.96238340G>A	ENSP00000366025:p.Arg757Cys					DZIP1_ENST00000361396.2_Missense_Mutation_p.R738C|DZIP1_ENST00000361156.3_Missense_Mutation_p.R738C|DZIP1_ENST00000376829.2_Missense_Mutation_p.R757C	p.R757C			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		19	2701	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		757					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2269C>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797606	0.31777	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.67	4.8	0.61643	.	0.764872	0.12806	N	0.437632	T	0.33381	0.0861	L	0.29908	0.895	0.09310	N	1	D;D	0.59767	0.986;0.976	P;B	0.49502	0.613;0.409	T	0.16247	-1.0409	10	0.72032	D	0.01	-0.5738	14.0627	0.64810	0.0:0.0:0.8492:0.1508	.	738;757	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	C	757;738;738;757	ENSP00000257312:R757C;ENSP00000355018:R738C;ENSP00000355175:R738C;ENSP00000366025:R757C	ENSP00000257312:R757C	R	-	1	0	DZIP1	95036341	0.929000	0.31497	0.003000	0.11579	0.004000	0.04260	1.740000	0.38228	1.346000	0.45694	0.655000	0.94253	CGC		0.318	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		5	78	0	0	0	1	0	5	78				
TTN	7273	broad.mit.edu	37	2	179414070	179414070	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179414070C>G	ENST00000591111.1	-	289	87584	c.87360G>C	c.(87358-87360)aaG>aaC	p.K29120N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21888N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K30761N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21821N|TTN_ENST00000460472.2_Missense_Mutation_p.K21696N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K28193N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29120	Fibronectin type-III 112. {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)			TTGTGCTTTTCTTTTCTCTTC	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.(92281-92283)aaG>aaC		titin							146.0	141.0	143.0					2																	179414070		1935	4136	6071	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414070C>G	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.87360G>C	2.37:g.179414070C>G	ENSP00000465570:p.Lys29120Asn					TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K29120N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K21696N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21888N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21821N|TTN_ENST00000342992.6_Missense_Mutation_p.K28193N	p.K30761N	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)		339	92507	-			29120			Fibronectin type-III 124.		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.92283G>C		.	.	.	.	.	.	.	.	.	.	C	18.96	3.734618	0.69189	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75700	0.3885	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.77696	-0.2491	9	0.87932	D	0	.	13.5017	0.61459	0.0:0.9286:0.0:0.0714	.	21696;21821;21888;29120	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28193;21696;21888;21821;21693	ENSP00000343764:K28193N;ENSP00000434586:K21696N;ENSP00000340554:K21888N;ENSP00000352154:K21821N	ENSP00000340554:K21888N	K	-	3	2	TTN	179122316	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.296000	0.51802	2.873000	0.98535	0.563000	0.77884	AAG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	103	0	0	0	1	0	8	103				
CD209	30835	broad.mit.edu	37	19	7812249	7812249	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:7812249C>T	ENST00000315599.7	-	2	71	c.49G>A	c.(49-51)Gag>Aag	p.E17K	CD209_ENST00000601951.1_Missense_Mutation_p.E17K|CD209_ENST00000601256.1_Missense_Mutation_p.E17K|CD209_ENST00000593821.1_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.E17K|CD209_ENST00000394161.5_Missense_Mutation_p.E17K|CD209_ENST00000354397.6_Missense_Mutation_p.E17K|CD209_ENST00000593660.1_Missense_Mutation_p.E17K|CD209_ENST00000602261.1_Missense_Mutation_p.E17K|CD209_ENST00000315591.8_Missense_Mutation_p.E17K|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	17					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTGTTCCTCCTCTGAATGG	0.572																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(49-51)Gag>Aag		CD209 molecule							287.0	293.0	291.0					19																	7812249		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812249C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.49G>A	19.37:g.7812249C>T	ENSP00000315477:p.Glu17Lys					CD209_ENST00000315591.8_Missense_Mutation_p.E17K|CD209_ENST00000601256.1_Missense_Mutation_p.E17K|CD209_ENST00000354397.6_Missense_Mutation_p.E17K|CD209_ENST00000394161.5_Missense_Mutation_p.E17K|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.E17K|CD209_ENST00000394173.4_Missense_Mutation_p.E17K|CD209_ENST00000204801.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.E17K|CD209_ENST00000593660.1_Missense_Mutation_p.E17K	p.E17K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			2	71	-			17					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.49G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152138	0.57259	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000394173;ENST00000394161;ENST00000538585	T;T;T;T;T	0.13196	3.62;4.01;3.34;3.75;2.61	3.41	3.41	0.39046	.	.	.	.	.	T	0.29620	0.0739	L	0.55481	1.735	0.22666	N	0.998875	D;D;D;D;B;P;D;B;D;D	0.71674	0.998;0.998;0.996;0.99;0.4;0.644;0.994;0.009;0.994;0.994	D;D;D;D;B;B;D;B;P;D	0.78314	0.991;0.953;0.99;0.979;0.121;0.192;0.977;0.013;0.84;0.909	T	0.03443	-1.1036	9	0.38643	T	0.18	.	11.0264	0.47746	0.0:1.0:0.0:0.0	.	17;17;17;17;17;17;17;17;17;17	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-12;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	K	17	ENSP00000315477:E17K;ENSP00000346373:E17K;ENSP00000315407:E17K;ENSP00000377728:E17K;ENSP00000377716:E17K	ENSP00000315407:E17K	E	-	1	0	CD209	7718249	0.004000	0.15560	0.433000	0.26760	0.167000	0.22549	0.591000	0.23969	1.850000	0.53721	0.563000	0.77884	GAG		0.572	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		22	366	0	0	0	1	0	22	366				
SIGLEC8	27181	broad.mit.edu	37	19	51955714	51955714	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:51955714G>C	ENST00000321424.3	-	7	1485	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.I364M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.I380M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	473					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGGATCTTGATCTCCGAGT	0.517																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1417-1419)atC>atG		sialic acid binding Ig-like lectin 8							127.0	115.0	119.0					19																	51955714		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955714G>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1419C>G	19.37:g.51955714G>C	ENSP00000321077:p.Ile473Met					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.I364M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.I380M	p.I473M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1485	-		all_neural(266;0.0199)	473					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1419C>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	14.68	2.607703	0.46527	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.06608	3.28;3.28;3.28	3.09	0.67	0.17923	.	.	.	.	.	T	0.21841	0.0526	M	0.85630	2.765	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.997;0.922	T	0.06320	-1.0833	9	0.87932	D	0	.	3.8359	0.08894	0.1418:0.0:0.6233:0.235	.	364;380;473	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	M	364;473;380	ENSP00000389142:I364M;ENSP00000321077:I473M;ENSP00000339448:I380M	ENSP00000321077:I473M	I	-	3	3	SIGLEC8	56647526	0.111000	0.22076	0.113000	0.21522	0.453000	0.32348	1.256000	0.32921	0.459000	0.27016	0.502000	0.49764	ATC		0.517	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		9	131	0	0	0	1	0	9	131				
GTF2H5	404672	broad.mit.edu	37	6	158613079	158613079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:158613079C>G	ENST00000607778.1	+	3	184	c.106C>G	c.(106-108)Caa>Gaa	p.Q36E		NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5	36					cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		GTTCATCATTCAAGACATTGA	0.423								Nucleotide excision repair (NER)																														ENST00000607778.1																			0											c.(106-108)Caa>Gaa	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 5							149.0	126.0	134.0					6																	158613079		2203	4300	6503	SO:0001583	missense	404672				nucleotide-excision repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:158613079C>G	AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	21157	protein-coding gene	gene with protein product	"""DNA repair syndrome trichothiodystrophy group A"""	608780	"""chromosome 6 open reading frame 175"", ""trichothiodystrophy"""	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.106C>G	6.37:g.158613079C>G	ENSP00000476100:p.Gln36Glu						p.Q36E	NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)	3	184	+		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	36					Q0P5V8	Missense_Mutation	SNP	ENST00000607778.1	37	c.106C>G	CCDS5256.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254294	0.22965	.	.	ENSG00000185068	ENST00000438073	T	0.79554	-1.28	6.06	5.19	0.71726	.	0.163679	0.53938	D	0.000041	T	0.43122	0.1233	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.45833	-0.9234	9	0.02654	T	1	-10.9128	13.7105	0.62665	0.0:0.9292:0.0:0.0708	.	36	Q6ZYL4	TF2H5_HUMAN	E	36	ENSP00000415032:Q36E	ENSP00000415032:Q36E	Q	+	1	0	GTF2H5	158533067	1.000000	0.71417	0.980000	0.43619	0.287000	0.27160	5.724000	0.68500	1.580000	0.49851	-0.145000	0.13849	CAA		0.423	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042865.2	NM_207118		11	111	0	0	0	1	0	11	111				
ANLN	54443	broad.mit.edu	37	7	36455439	36455439	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:36455439G>C	ENST00000265748.2	+	8	1689	c.1468G>C	c.(1468-1470)Gaa>Caa	p.E490Q	ANLN_ENST00000396068.2_Missense_Mutation_p.E490Q|ANLN_ENST00000495714.1_Intron	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	490	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCCAGTAACAGAAAAGGTGAC	0.383																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1468-1470)Gaa>Caa		anillin, actin binding protein							118.0	122.0	120.0					7																	36455439		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36455439G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1468G>C	7.37:g.36455439G>C	ENSP00000265748:p.Glu490Gln					ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Missense_Mutation_p.E490Q	p.E490Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			8	1689	+			490			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1468G>C	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960041	0.74016	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.12569	2.67;2.69	4.52	4.52	0.55395	.	0.703382	0.14231	N	0.332753	T	0.16981	0.0408	L	0.56769	1.78	0.29214	N	0.874359	P;P;P;P	0.40398	0.561;0.536;0.666;0.716	B;B;B;B	0.38683	0.189;0.203;0.279;0.265	T	0.04294	-1.0962	10	0.44086	T	0.13	-8.0061	13.4779	0.61318	0.0:0.0:1.0:0.0	.	367;490;490;490	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	Q	490	ENSP00000265748:E490Q;ENSP00000379380:E490Q	ENSP00000265748:E490Q	E	+	1	0	ANLN	36421964	0.993000	0.37304	0.922000	0.36590	0.951000	0.60555	2.637000	0.46553	2.459000	0.83118	0.591000	0.81541	GAA		0.383	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		4	172	0	0	0	1	0	4	172				
ATF1	466	broad.mit.edu	37	12	51203320	51203320	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51203320C>T	ENST00000262053.3	+	4	298	c.276C>T	c.(274-276)gtC>gtT	p.V92V	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	92					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	CTGCTGCTGTCACTTCTATGT	0.393			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	"""EWSR1, FUS"""		"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(274-276)gtC>gtT		activating transcription factor 1							83.0	86.0	85.0					12																	51203320		2203	4300	6503	SO:0001819	synonymous_variant	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51203320C>T	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.276C>T	12.37:g.51203320C>T						ATF1_ENST00000539132.1_Intron	p.V92V	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			4	298	+			92					B4DRF9|P25168|Q9H4A8	Silent	SNP	ENST00000262053.3	37	c.276C>T	CCDS8803.1																																																																																				0.393	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		10	114	0	0	0	1	0	10	114				
FIGN	55137	broad.mit.edu	37	2	164467396	164467396	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:164467396G>A	ENST00000333129.3	-	3	1260	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	316					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTCCTTTTGAGAGAACTTGCT	0.502																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(946-948)Ctc>Ttc		fidgetin							86.0	86.0	86.0					2																	164467396		1949	4144	6093	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467396G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.946C>T	2.37:g.164467396G>A	ENSP00000333836:p.Leu316Phe					FIGN_ENST00000409634.1_Intron	p.L316F	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1260	-			316					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.946C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365242	0.41902	.	.	ENSG00000182263	ENST00000333129	D	0.94417	-3.42	5.94	5.94	0.96194	.	0.144126	0.44688	D	0.000437	D	0.96386	0.8821	M	0.63843	1.955	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	D	0.93370	0.6734	10	0.09843	T	0.71	-19.8675	20.3666	0.98879	0.0:0.0:1.0:0.0	.	316	Q5HY92	FIGN_HUMAN	F	316	ENSP00000333836:L316F	ENSP00000333836:L316F	L	-	1	0	FIGN	164175642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.742000	0.85008	2.814000	0.96858	0.563000	0.77884	CTC		0.502	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		5	104	0	0	0	1	0	5	104				
PRX	57716	broad.mit.edu	37	19	40902682	40902682	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:40902682G>A	ENST00000324001.7	-	7	1847	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	526	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S526L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTCATCTCCGACACTTTCAG	0.567																																						ENST00000324001.7																			1	Substitution - Missense(1)	p.S526L(1)	cervix(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1576-1578)tCg>tTg		periaxin							83.0	96.0	92.0					19																	40902682		2202	4300	6502	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902682G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1577C>T	19.37:g.40902682G>A	ENSP00000326018:p.Ser526Leu					PRX_ENST00000291825.7_3'UTR	p.S526L	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1847	-			526			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1577C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698995	0.30142	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02103	4.45	3.9	3.9	0.45041	.	0.465981	0.18231	N	0.147576	T	0.01800	0.0057	N	0.22421	0.69	0.26274	N	0.978372	P	0.39624	0.681	B	0.30495	0.116	T	0.52472	-0.8571	10	0.33940	T	0.23	.	13.4146	0.60961	0.0:0.0:1.0:0.0	.	526	Q9BXM0	PRAX_HUMAN	L	526	ENSP00000326018:S526L	ENSP00000326018:S526L	S	-	2	0	PRX	45594522	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	0.389000	0.20751	2.011000	0.59026	0.561000	0.74099	TCG		0.567	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	200	0	0	0	1	0	9	200				
HNRNPA1	3178	broad.mit.edu	37	12	54678090	54678090	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:54678090G>C	ENST00000340913.6	+	10	1165	c.1112G>C	c.(1111-1113)aGa>aCa	p.R371T	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R266T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R306T|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.R319T	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	371	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTGGCAGAAGATTTTAATTA	0.378																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(955-957)aGa>aCa		heterogeneous nuclear ribonucleoprotein A1							72.0	70.0	70.0					12																	54678090		1847	4098	5945	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54678090G>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.1112G>C	12.37:g.54678090G>C	ENSP00000341826:p.Arg371Thr					HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R266T|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R371T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R306T|RP11-968A15.8_ENST00000553061.1_RNA	p.R319T			P09651	ROA1_HUMAN			9	1571	+			371			Gly-rich.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.956G>C	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037185	0.54896	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000340913;ENST00000330752;ENST00000551133;ENST00000547276;ENST00000550482	T;D;T;T	0.85773	-0.42;-2.03;-0.34;1.05	4.1	3.22	0.36961	.	0.379541	0.21297	N	0.076866	D	0.90896	0.7139	M	0.74881	2.28	0.25482	N	0.98773	P;B;B;D;B;P	0.76494	0.608;0.275;0.403;0.999;0.403;0.608	B;B;B;D;B;B	0.83275	0.143;0.056;0.075;0.996;0.056;0.143	T	0.83281	-0.0038	10	0.87932	D	0	.	11.701	0.51571	0.0:0.0:0.8216:0.1784	.	297;306;319;266;319;371	Q9BSM5;F8VRQ1;F8W6I7;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	T	319;303;371;319;306;266;190	ENSP00000448617:R319T;ENSP00000341826:R371T;ENSP00000447260:R266T;ENSP00000446486:R190T	ENSP00000333504:R319T	R	+	2	0	HNRNPA1	52964357	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.657000	0.74402	1.347000	0.45714	-0.218000	0.12543	AGA		0.378	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		5	69	0	0	0	1	0	5	69				
FAT4	79633	broad.mit.edu	37	4	126408688	126408688	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:126408688C>T	ENST00000394329.3	+	16	13018	c.13005C>T	c.(13003-13005)ttC>ttT	p.F4335F	FAT4_ENST00000335110.5_Silent_p.F2576F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4335	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						CTCAGGACTTCGGTGGCCTTG	0.418																																						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.(13003-13005)ttC>ttT		FAT atypical cadherin 4							74.0	73.0	74.0					4																	126408688		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408688C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13005C>T	4.37:g.126408688C>T						FAT4_ENST00000335110.5_Silent_p.F2576F	p.F4335F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			16	13018	+			4335			Laminin G-like 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13005C>T	CCDS3732.3																																																																																				0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	106	0	0	0	1	0	8	106				
MBD6	114785	broad.mit.edu	37	12	57921393	57921393	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:57921393C>T	ENST00000355673.3	+	8	2542	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	MBD6_ENST00000431731.2_Missense_Mutation_p.S729L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	729	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCTCCAACTCAGGGAGACCC	0.617																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2185-2187)tCa>tTa		methyl-CpG binding domain protein 6							74.0	84.0	81.0					12																	57921393		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921393C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2186C>T	12.37:g.57921393C>T	ENSP00000347896:p.Ser729Leu					MBD6_ENST00000431731.2_Missense_Mutation_p.S729L	p.S729L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			8	2542	+			729			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.2186C>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790836	0.50102	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.68	4.68	0.58851	.	1.042900	0.07653	N	0.932248	T	0.55847	0.1946	N	0.08118	0	0.36539	D	0.8712	D;D	0.57899	0.981;0.981	D;D	0.66351	0.943;0.943	T	0.60535	-0.7244	9	0.62326	D	0.03	-5.126	14.9971	0.71439	0.0:1.0:0.0:0.0	.	729;729	Q6P0P0;Q96DN6	.;MBD6_HUMAN	L	729;729;193	.	ENSP00000300263:S193L	S	+	2	0	MBD6	56207660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.704000	0.54815	2.608000	0.88229	0.561000	0.74099	TCA		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			7	176	0	0	0	1	0	7	176				
HECW1	23072	broad.mit.edu	37	7	43447198	43447198	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:43447198C>G	ENST00000395891.2	+	8	1274	c.669C>G	c.(667-669)ttC>ttG	p.F223L	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.F223L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	223	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGATGTTTTTCAACCCAGACC	0.428																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(667-669)ttC>ttG		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							48.0	46.0	46.0					7																	43447198		1864	4104	5968	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43447198C>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.669C>G	7.37:g.43447198C>G	ENSP00000379228:p.Phe223Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.F223L|HECW1_ENST00000471043.1_3'UTR	p.F223L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			8	1274	+			223			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.669C>G	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271852	0.80469	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.41065	1.01;1.01	5.35	4.35	0.52113	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.096306	0.64402	D	0.000001	T	0.62221	0.2410	M	0.75447	2.3	0.53688	D	0.999976	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.80764	0.992;0.987;0.994	T	0.65001	-0.6274	10	0.59425	D	0.04	.	12.5553	0.56250	0.0:0.8876:0.0:0.1124	.	223;255;223	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	L	223;223;222	ENSP00000379228:F223L;ENSP00000407774:F223L	ENSP00000265522:F222L	F	+	3	2	HECW1	43413723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.909000	0.39917	2.488000	0.83962	0.563000	0.77884	TTC		0.428	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		3	50	0	0	0	1	0	3	50				
IFNGR2	3460	broad.mit.edu	37	21	34799249	34799249	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr21:34799249C>G	ENST00000290219.6	+	4	1119	c.471C>G	c.(469-471)atC>atG	p.I157M	IFNGR2_ENST00000381995.1_Missense_Mutation_p.I176M|IFNGR2_ENST00000405436.1_Missense_Mutation_p.I78M	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	157	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCCTCATCATCAGGTTCTCCT	0.453																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(469-471)atC>atG		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						233.0	229.0	230.0					21																	34799249		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799249C>G		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.471C>G	21.37:g.34799249C>G	ENSP00000290219:p.Ile157Met					IFNGR2_ENST00000381995.1_Missense_Mutation_p.I176M|IFNGR2_ENST00000405436.1_Missense_Mutation_p.I78M	p.I157M	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1119	+			157			Fibronectin type-III 2.		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.471C>G	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408524	0.62399	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.54675	0.56;0.56;0.56	5.38	2.3	0.28687	Fibronectin, type III (3);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.760525	0.12343	N	0.477273	T	0.55449	0.1921	L	0.39245	1.2	0.09310	N	1	D;D	0.62365	0.984;0.991	P;D	0.64687	0.837;0.928	T	0.39396	-0.9616	10	0.49607	T	0.09	-12.0047	3.485	0.07617	0.1804:0.5646:0.1623:0.0928	.	176;157	E7EUY1;P38484	.;INGR2_HUMAN	M	157;176;78	ENSP00000290219:I157M;ENSP00000371425:I176M;ENSP00000385044:I78M	ENSP00000290219:I157M	I	+	3	3	IFNGR2	33721119	0.005000	0.15991	0.064000	0.19789	0.316000	0.28119	0.416000	0.21198	0.705000	0.31890	0.563000	0.77884	ATC		0.453	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			15	278	0	0	0	1	0	15	278				
SUFU	51684	broad.mit.edu	37	10	104359284	104359284	+	Silent	SNP	C	C	T	rs575246362		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:104359284C>T	ENST00000369902.3	+	8	1171	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	SUFU_ENST00000423559.2_Silent_p.L335L|SUFU_ENST00000369899.2_Silent_p.L335L|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	335					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGAATGGCCTCGCCCACGACC	0.577			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(1003-1005)ctC>ctT		suppressor of fused homolog (Drosophila)							80.0	75.0	77.0					10																	104359284		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104359284C>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1005C>T	10.37:g.104359284C>T						SUFU_ENST00000423559.2_Silent_p.L335L|SUFU_ENST00000369899.2_Silent_p.L335L|SUFU_ENST00000471000.1_3'UTR	p.L335L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	8	1171	+		Colorectal(252;0.207)	335					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.1005C>T	CCDS7537.1																																																																																				0.577	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		4	66	0	0	0	1	0	4	66				
NLRP12	91662	broad.mit.edu	37	19	54327417	54327417	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:54327417G>A	ENST00000324134.6	-	1	180	c.12C>T	c.(10-12)acC>acT	p.T4T	NLRP12_ENST00000345770.5_Silent_p.T4T|NLRP12_ENST00000391772.1_Silent_p.T4T|NLRP12_ENST00000354278.3_Silent_p.T4T|NLRP12_ENST00000391775.3_Silent_p.T4T|NLRP12_ENST00000535162.1_Silent_p.T4T|NLRP12_ENST00000351894.4_Silent_p.T4T|NLRP12_ENST00000391773.1_Silent_p.T4T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	4	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCTGCCTGCGGTTCGTAGCA	0.602																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(10-12)acC>acT		NLR family, pyrin domain containing 12							39.0	38.0	39.0					19																	54327417		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327417G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.12C>T	19.37:g.54327417G>A						NLRP12_ENST00000351894.4_Silent_p.T4T|NLRP12_ENST00000391775.3_Silent_p.T4T|NLRP12_ENST00000354278.3_Silent_p.T4T|NLRP12_ENST00000391772.1_Silent_p.T4T|NLRP12_ENST00000345770.5_Silent_p.T4T|NLRP12_ENST00000391773.1_Silent_p.T4T|NLRP12_ENST00000535162.1_Silent_p.T4T	p.T4T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	180	-	Ovarian(34;0.19)		4			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.12C>T	CCDS12864.1																																																																																				0.602	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		5	46	0	0	0	1	0	5	46				
SMAD2	4087	broad.mit.edu	37	18	45368239	45368239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:45368239G>A	ENST00000402690.2	-	11	1757	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	SMAD2_ENST00000262160.6_Nonsense_Mutation_p.Q455*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.Q425*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.Q425*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	455	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GATCCCATCTGAGTTAATACT	0.413																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1363-1365)Cag>Tag		SMAD family member 2							161.0	135.0	144.0					18																	45368239		2203	4300	6503	SO:0001587	stop_gained	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368239G>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1363C>T	18.37:g.45368239G>A	ENSP00000384449:p.Gln455*					SMAD2_ENST00000262160.6_Nonsense_Mutation_p.Q455*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.Q425*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.Q425*	p.Q455*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			11	1757	-			455			MH2.			Nonsense_Mutation	SNP	ENST00000402690.2	37	c.1363C>T	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	41	8.691215	0.98916	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	455;425;455	.	ENSP00000262160:Q455X	Q	-	1	0	SMAD2	43622237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	CAG		0.413	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		6	72	0	0	0	1	0	6	72				
FANCD2	2177	broad.mit.edu	37	3	10094157	10094157	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:10094157G>C	ENST00000419585.1	+	18	1793	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	FANCD2_ENST00000383806.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000287647.3_Missense_Mutation_p.Q544H			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	544					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTAGCAAACAGAATGAAGCCA	0.408			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1630-1632)caG>caC	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							54.0	54.0	54.0					3																	10094157		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10094157G>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1632G>C	3.37:g.10094157G>C	ENSP00000398754:p.Gln544His					FANCD2_ENST00000383807.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000419585.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q544H	p.Q544H	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	18	1725	+			544					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1632G>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892833	0.33442	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.69306	0.65;0.66;-0.39;0.66	5.35	-1.69	0.08186	.	0.894606	0.09846	N	0.748162	T	0.59878	0.2226	L	0.44542	1.39	0.27842	N	0.941064	P;P	0.50710	0.938;0.938	P;P	0.50860	0.652;0.652	T	0.53982	-0.8361	10	0.45353	T	0.12	.	3.3523	0.07156	0.2771:0.0:0.2706:0.4523	.	544;544	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	H	544	ENSP00000287647:Q544H;ENSP00000373318:Q544H;ENSP00000373317:Q544H;ENSP00000398754:Q544H	ENSP00000287647:Q544H	Q	+	3	2	FANCD2	10069157	0.999000	0.42202	0.017000	0.16124	0.438000	0.31896	0.352000	0.20113	-0.007000	0.14345	-0.187000	0.12897	CAG		0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			5	77	0	0	0	1	0	5	77				
TCHH	7062	broad.mit.edu	37	1	152080837	152080837	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152080837C>G	ENST00000368804.1	-	2	4855	c.4856G>C	c.(4855-4857)aGa>aCa	p.R1619T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1619	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGAATTTTCTGTCGCGCTC	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4855-4857)aGa>aCa		trichohyalin							70.0	70.0	70.0					1																	152080837		1931	4141	6072	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080837C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4856G>C	1.37:g.152080837C>G	ENSP00000357794:p.Arg1619Thr						p.R1619T	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4855	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1619			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4856G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454660	0.43634	.	.	ENSG00000159450	ENST00000368804	T	0.05925	3.37	4.27	4.27	0.50696	.	.	.	.	.	T	0.11153	0.0272	M	0.75615	2.305	0.30253	N	0.793907	D	0.69078	0.997	D	0.66196	0.942	T	0.11567	-1.0582	9	0.16420	T	0.52	-2.1866	14.2433	0.65971	0.0:1.0:0.0:0.0	.	1619	Q07283	TRHY_HUMAN	T	1619	ENSP00000357794:R1619T	ENSP00000357794:R1619T	R	-	2	0	TCHH	150347461	0.002000	0.14202	0.902000	0.35471	0.125000	0.20455	1.689000	0.37700	2.220000	0.72140	0.467000	0.42956	AGA		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		15	171	0	0	0	1	0	15	171				
IGKV1-5	28299	broad.mit.edu	37	2	89246896	89246896	+	RNA	SNP	C	C	T	rs567581632	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:89246896C>T	ENST00000496168.1	-	0	454							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AGAGTGAATTCTGTCCCAGAT	0.478																																						ENST00000496168.1																			0																																																			28299							g.chr2:89246896C>T	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89246896C>T														0	454	-									RNA	SNP	ENST00000496168.1	37																																																																																						0.478	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		7	190	0	0	0	1	0	7	190				
FRMPD1	22844	broad.mit.edu	37	9	37745714	37745714	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:37745714G>C	ENST00000539465.1	+	16	4278	c.3685G>C	c.(3685-3687)Gag>Cag	p.E1229Q	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1229Q			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1229						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATCAAGGCAGAGGCACCTAA	0.502																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3685-3687)Gag>Cag		FERM and PDZ domain containing 1							82.0	85.0	84.0					9																	37745714		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745714G>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3685G>C	9.37:g.37745714G>C	ENSP00000444411:p.Glu1229Gln					FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1229Q|RP11-613M10.9_ENST00000540557.1_Intron	p.E1229Q			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4278	+			1229					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3685G>C	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	9.158	1.017877	0.19355	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.11495	2.77;2.77	5.06	4.12	0.48240	.	0.624874	0.15443	N	0.262105	T	0.08268	0.0206	L	0.27053	0.805	0.58432	D	0.999996	B	0.26445	0.149	B	0.24541	0.054	T	0.27191	-1.0081	10	0.26408	T	0.33	-10.9804	11.6524	0.51297	0.0:0.1776:0.8224:0.0	.	1229	Q5SYB0	FRPD1_HUMAN	Q	1229	ENSP00000366995:E1229Q;ENSP00000444411:E1229Q	ENSP00000366995:E1229Q	E	+	1	0	FRMPD1	37735714	0.000000	0.05858	0.995000	0.50966	0.086000	0.17979	0.665000	0.25083	2.355000	0.79922	0.561000	0.74099	GAG		0.502	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		5	103	0	0	0	1	0	5	103				
NPM3	10360	broad.mit.edu	37	10	103542342	103542342	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:103542342C>T	ENST00000370110.5	-	3	239	c.217G>A	c.(217-219)Gag>Aag	p.E73K	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	73					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTGGCTCCCTCGGTGAGGCAG	0.577																																						ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(217-219)Gag>Aag		nucleophosmin/nucleoplasmin 3							140.0	113.0	122.0					10																	103542342		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542342C>T	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.217G>A	10.37:g.103542342C>T	ENSP00000359128:p.Glu73Lys					NPM3_ENST00000474993.1_5'UTR	p.E73K	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	3	239	-		Colorectal(252;0.122)	73					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.217G>A	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316152	0.81469	.	.	ENSG00000107833	ENST00000370110	T	0.44881	0.91	5.13	5.13	0.70059	Nucleoplasmin core (2);	0.146428	0.64402	D	0.000010	T	0.35998	0.0951	L	0.60455	1.87	0.48975	D	0.999733	P	0.35944	0.529	B	0.26202	0.067	T	0.21381	-1.0247	10	0.15499	T	0.54	-23.1267	16.7852	0.85572	0.0:1.0:0.0:0.0	.	73	O75607	NPM3_HUMAN	K	73	ENSP00000359128:E73K	ENSP00000359128:E73K	E	-	1	0	NPM3	103532332	0.991000	0.36638	1.000000	0.80357	0.966000	0.64601	4.978000	0.63799	2.382000	0.81193	0.650000	0.86243	GAG		0.577	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		5	54	0	0	0	1	0	5	54				
RNF43	54894	broad.mit.edu	37	17	56492888	56492888	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:56492888C>T	ENST00000584437.1	-	1	2006	c.51G>A	c.(49-51)ctG>ctA	p.L17L	RNF43_ENST00000577716.1_Silent_p.L17L|RNF43_ENST00000407977.2_Silent_p.L17L|RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Silent_p.L17L|RNF43_ENST00000583753.1_Silent_p.L17L			Q68DV7	RNF43_HUMAN	ring finger protein 43	17					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTAGCCATCAGCAGCCAGG	0.562																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(49-51)ctG>ctA		ring finger protein 43							37.0	35.0	36.0					17																	56492888		2202	4298	6500	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492888C>T		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.51G>A	17.37:g.56492888C>T						RNF43_ENST00000583753.1_Silent_p.L17L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Silent_p.L17L|RNF43_ENST00000500597.2_Silent_p.L17L|RNF43_ENST00000407977.2_Silent_p.L17L	p.L17L			Q68DV7	RNF43_HUMAN			1	2006	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		17					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.51G>A	CCDS11607.1																																																																																				0.562	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		10	73	0	0	0	1	0	10	73				
CSMD3	114788	broad.mit.edu	37	8	113395847	113395847	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:113395847C>T	ENST00000297405.5	-	37	6224	c.5980G>A	c.(5980-5982)Gac>Aac	p.D1994N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1954N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1924N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1890N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1994	CUB 11. {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						TCATAAAAGTCCAGAGAATCC	0.343										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.(5980-5982)Gac>Aac		CUB and Sushi multiple domains 3							84.0	82.0	83.0					8																	113395847		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113395847C>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.5980G>A	8.37:g.113395847C>T	ENSP00000297405:p.Asp1994Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.D1890N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1924N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1954N	p.D1994N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			37	6224	-			1994			CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5980G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060415	0.93846	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.42	4.42	0.53409	CUB (5);	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	N	0.17345	0.48	0.58432	D	0.999996	D;P;D	0.62365	0.991;0.888;0.983	D;P;P	0.63793	0.918;0.777;0.888	T	0.08166	-1.0735	10	0.44086	T	0.13	.	17.5729	0.87940	0.0:1.0:0.0:0.0	.	1890;1994;1954	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1954;1994;1264;1890;1924	ENSP00000345799:D1954N;ENSP00000297405:D1994N;ENSP00000341558:D1264N;ENSP00000412263:D1890N;ENSP00000343124:D1924N	ENSP00000297405:D1994N	D	-	1	0	CSMD3	113465023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.440000	0.82611	0.467000	0.42956	GAC		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	91	0	0	0	1	0	5	91				
NUMA1	4926	broad.mit.edu	37	11	71724989	71724989	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:71724989G>C	ENST00000393695.3	-	15	3891	c.3560C>G	c.(3559-3561)tCg>tGg	p.S1187W	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.S1187W	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCGTTGGGCCGAGGCTAAGGC	0.652			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3559-3561)tCg>tGg		nuclear mitotic apparatus protein 1							70.0	61.0	64.0					11																	71724989		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724989G>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3560C>G	11.37:g.71724989G>C	ENSP00000377298:p.Ser1187Trp					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.S1187W	p.S1187W	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3891	-			1187						Missense_Mutation	SNP	ENST00000393695.3	37	c.3560C>G	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.442|6.442	0.449709|0.449709	0.12223|0.12223	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T	.|0.13307	.|2.6;2.6	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.204889	.|0.24786	.|N	.|0.035614	T|T	0.17916|0.17916	0.0430|0.0430	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D;D;D	.|0.55605	.|0.972;0.972;0.969;0.972	.|P;P;P;P	.|0.51355	.|0.662;0.667;0.57;0.662	T|T	0.03651|0.03651	-1.1016|-1.1016	5|10	.|0.87932	.|D	.|0	.|.	9.0872|9.0872	0.36587|0.36587	0.0:0.0:0.7817:0.2183|0.0:0.0:0.7817:0.2183	.|.	.|1193;671;1187;1187	.|Q4LE64;Q59HB8;Q14980-2;Q14980	.|.;.;.;NUMA1_HUMAN	G|W	32|1187;1187;750;156	.|ENSP00000351851:S1187W;ENSP00000377298:S1187W	.|ENSP00000351851:S1187W	R|S	-|-	1|2	2|0	NUMA1|NUMA1	71402637|71402637	0.022000|0.022000	0.18835|0.18835	0.034000|0.034000	0.17996|0.17996	0.071000|0.071000	0.16799|0.16799	2.174000|2.174000	0.42482|0.42482	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.652	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	66	0	0	0	1	0	4	66				
MUC16	94025	broad.mit.edu	37	19	9011002	9011002	+	Silent	SNP	G	G	A	rs374640134		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:9011002G>A	ENST00000397910.4	-	37	39119	c.38916C>T	c.(38914-38916)ttC>ttT	p.F12972F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12974					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						TCCGATGGGTGAAACCTGCAT	0.542													N|||	1	0.000199681	0.0008	0.0	5008	,	,		18718	0.0		0.0	False		,,,				2504	0.0					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.(38914-38916)ttC>ttT		mucin 16, cell surface associated		G		1,3841		0,1,1920	142.0	127.0	132.0		38916	1.8	0.8	19		132	0,8228		0,0,4114	no	coding-synonymous	MUC16	NM_024690.2		0,1,6034	AA,AG,GG		0.0,0.026,0.0083		12972/14508	9011002	1,12069	1921	4114	6035	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011002G>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.38916C>T	19.37:g.9011002G>A							p.F12972F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			37	39119	-			12974					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38916C>T	CCDS54212.1																																																																																				0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	164	0	0	0	1	0	10	164				
TCHH	7062	broad.mit.edu	37	1	152083910	152083910	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152083910C>T	ENST00000368804.1	-	2	1782	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	595	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCTCTCTTCCTGCTCGCGC	0.682																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1783-1785)Gaa>Aaa		trichohyalin							43.0	48.0	47.0					1																	152083910		1959	4134	6093	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083910C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1783G>A	1.37:g.152083910C>T	ENSP00000357794:p.Glu595Lys						p.E595K	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1782	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		595			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1783G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	9.031	0.987363	0.18889	.	.	ENSG00000159450	ENST00000368804	T	0.05649	3.41	2.39	1.42	0.22433	.	.	.	.	.	T	0.01156	0.0038	N	0.24115	0.695	0.09310	N	1	P	0.46656	0.882	P	0.44811	0.461	T	0.22312	-1.0220	9	0.07175	T	0.84	.	3.5019	0.07676	0.0:0.5649:0.2726:0.1624	.	595	Q07283	TRHY_HUMAN	K	595	ENSP00000357794:E595K	ENSP00000357794:E595K	E	-	1	0	TCHH	150350534	0.044000	0.20184	0.005000	0.12908	0.055000	0.15305	1.711000	0.37930	0.205000	0.20568	0.187000	0.17357	GAA		0.682	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	99	0	0	0	1	0	6	99				
SYNE2	23224	broad.mit.edu	37	14	64691258	64691258	+	Missense_Mutation	SNP	G	G	A	rs148791608		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:64691258G>A	ENST00000344113.4	+	113	20605	c.20393G>A	c.(20392-20394)cGa>cAa	p.R6798Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.R3183Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.R3183Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R676Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3455Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.R581Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R469Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6821Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6714Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R343Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6798					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGCTCCCCGAGCAAAGGTA	0.542																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9547-9549)cGa>cAa		spectrin repeat containing, nuclear envelope 2		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	62.0	62.0		20393,1028,1406,20462	-2.6	0.0	14	dbSNP_134	62	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	SYNE2	NM_015180.4,NM_182910.2,NM_182913.2,NM_182914.2	43,43,43,43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign,benign,benign	6798/6886,343/430,469/557,6821/6908	64691258	4,13002	2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64691258G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20393G>A	14.37:g.64691258G>A	ENSP00000341781:p.Arg6798Gln					SYNE2_ENST00000458046.2_Missense_Mutation_p.R469Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3455Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6714Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R676Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R581Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3183Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6821Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R343Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6798Q	p.R3183Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	114	20692	+			6798					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9548G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202578	0.22121	2.27E-4	3.49E-4	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.56611	0.76;4.0;0.72;0.45;4.1;4.0;3.66;3.18;2.86;2.68	4.27	-2.58	0.06228	.	1.038060	0.07642	N	0.930500	T	0.17450	0.0419	N	0.00926	-1.1	0.09310	N	0.999999	B;B;B;B;B;B;B;B	0.12630	0.005;0.006;0.0;0.0;0.001;0.001;0.006;0.006	B;B;B;B;B;B;B;B	0.09377	0.001;0.004;0.0;0.003;0.001;0.001;0.002;0.002	T	0.20605	-1.0270	10	0.12103	T	0.63	.	5.1855	0.15182	0.538:0.2818:0.1801:0.0	.	455;3183;343;469;1200;6714;6798;6821	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	Q	6821;3183;6798;6714;6720;3455;3183;676;581;469;343	ENSP00000350719:R6821Q;ENSP00000349969:R3183Q;ENSP00000341781:R6798Q;ENSP00000452570:R6714Q;ENSP00000450831:R3455Q;ENSP00000378249:R3183Q;ENSP00000451009:R676Q;ENSP00000450605:R581Q;ENSP00000391937:R469Q;ENSP00000396794:R343Q	ENSP00000261678:R6720Q	R	+	2	0	SYNE2	63761011	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.072000	0.14617	-0.457000	0.07033	-1.223000	0.01593	CGA		0.542	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	74	0	0	0	1	0	6	74				
OR2A2	442361	broad.mit.edu	37	7	143806930	143806930	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:143806930G>A	ENST00000408979.2	+	1	324	c.255G>A	c.(253-255)atG>atA	p.M85I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CAAACCTAATGAACCAGAAAA	0.428																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(253-255)atG>atA		olfactory receptor, family 2, subfamily A, member 2							244.0	228.0	233.0					7																	143806930		2047	4222	6269	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806930G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.255G>A	7.37:g.143806930G>A	ENSP00000386209:p.Met85Ile						p.M85I	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	324	+	Melanoma(164;0.0783)		85					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.255G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	1.439	-0.568229	0.03910	.	.	ENSG00000221989	ENST00000408979	T	0.00382	7.61	3.61	-0.561	0.11785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.01679	-0.765	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17715	-1.0360	9	0.44086	T	0.13	0.236	4.3041	0.10938	0.4281:0.1687:0.4032:0.0	.	85	Q6IF42	OR2A2_HUMAN	I	85	ENSP00000386209:M85I	ENSP00000386209:M85I	M	+	3	0	OR2A2	143437863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.311000	0.02723	-0.252000	0.09528	-0.192000	0.12808	ATG		0.428	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			7	220	0	0	0	1	0	7	220				
KIAA2026	158358	broad.mit.edu	37	9	5922222	5922222	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:5922222C>T	ENST00000399933.3	-	8	3773	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	KIAA2026_ENST00000381461.2_Silent_p.Q1228Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1258										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AATCAGCAGTCTGTTGTGCAA	0.448																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(3772-3774)caG>caA		KIAA2026							124.0	112.0	116.0					9																	5922222		1926	4143	6069	SO:0001819	synonymous_variant	158358							g.chr9:5922222C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3774G>A	9.37:g.5922222C>T						KIAA2026_ENST00000381461.2_Silent_p.Q1228Q	p.Q1258Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3773	-		Acute lymphoblastic leukemia(23;0.158)	1258					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.3774G>A																																																																																					0.448	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		8	82	0	0	0	1	0	8	82				
MED16	10025	broad.mit.edu	37	19	880111	880111	+	Silent	SNP	G	G	A	rs200919426	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:880111G>A	ENST00000589119.1	-	7	1178	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	MED16_ENST00000325464.1_Silent_p.I393I|MED16_ENST00000312090.6_Silent_p.I393I|MED16_ENST00000395808.3_Silent_p.I393I|MED16_ENST00000269814.4_Silent_p.I393I|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	393					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGTGCACGATGTGGACGC	0.721													G|||	2	0.000399361	0.0	0.0	5008	,	,		13446	0.0		0.002	False		,,,				2504	0.0					ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1177-1179)atC>atT		mediator complex subunit 16		G		0,4338		0,0,2169	19.0	20.0	20.0		1179	0.4	1.0	19		20	3,8553		0,3,4275	no	coding-synonymous	MED16	NM_005481.2		0,3,6444	AA,AG,GG		0.0351,0.0,0.0233		393/878	880111	3,12891	2169	4278	6447	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:880111G>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1179C>T	19.37:g.880111G>A						MED16_ENST00000589119.1_Silent_p.I393I|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.I393I|MED16_ENST00000269814.4_Silent_p.I393I|MED16_ENST00000325464.1_Silent_p.I393I	p.I393I			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1329	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	393					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1179C>T	CCDS12047.1																																																																																				0.721	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		3	22	0	0	0	1	0	3	22				
BZW1	9689	broad.mit.edu	37	2	201680219	201680219	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:201680219C>G	ENST00000409600.1	+	3	675	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	BZW1_ENST00000452790.2_Missense_Mutation_p.L106V|BZW1_ENST00000409226.1_Missense_Mutation_p.L78V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTTTGACATTCTGGTGGCTGG	0.398																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(220-222)Ctg>Gtg		basic leucine zipper and W2 domains 1							64.0	62.0	62.0					2																	201680219		1944	4148	6092	SO:0001583	missense	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201680219C>G	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.220C>G	2.37:g.201680219C>G	ENSP00000386474:p.Leu74Val					BZW1_ENST00000409226.1_Missense_Mutation_p.L78V|BZW1_ENST00000452790.2_Missense_Mutation_p.L106V	p.L74V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			3	675	+			74					B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	c.220C>G	CCDS56156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.371739|4.371739	0.82573|0.82573	.|.	.|.	ENSG00000082153|ENSG00000082153	ENST00000431249|ENST00000450637;ENST00000452206;ENST00000410110;ENST00000409600;ENST00000409226;ENST00000452790;ENST00000447069;ENST00000419090	.|T;T;T;T;T;T;T;T	.|0.65732	.|-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.72|5.72	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76140|0.76140	0.3946|0.3946	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.998;0.997;0.986	.|D;D;P	.|0.73380	.|0.98;0.931;0.872	T|T	0.76105|0.76105	-0.3081|-0.3081	6|10	0.07990|0.38643	T|T	0.79|0.18	-4.2279|-4.2279	15.1466|15.1466	0.72657|0.72657	0.0:0.932:0.0:0.068|0.0:0.932:0.0:0.068	.|.	.|78;106;74	.|B4DWF7;B4DLZ8;Q7L1Q6	.|.;.;BZW1_HUMAN	L|V	19|74;74;74;74;78;106;78;74	.|ENSP00000412072:L74V;ENSP00000390766:L74V;ENSP00000387086:L74V;ENSP00000386474:L74V;ENSP00000386837:L78V;ENSP00000394316:L106V;ENSP00000393587:L78V;ENSP00000407268:L74V	ENSP00000391867:F19L|ENSP00000386837:L78V	F|L	+|+	3|1	2|2	BZW1|BZW1	201388464|201388464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.861000|3.861000	0.56002|0.56002	1.557000|1.557000	0.49525|0.49525	0.650000|0.650000	0.86243|0.86243	TTC|CTG		0.398	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		4	40	0	0	0	1	0	4	40				
ATN1	1822	broad.mit.edu	37	12	7045484	7045484	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:7045484C>T	ENST00000356654.4	+	5	1291	c.1054C>T	c.(1054-1056)Ctg>Ttg	p.L352L	ATN1_ENST00000396684.2_Silent_p.L352L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	352					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.L352V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCCAACTCTGGCTCCTTC	0.612																																						ENST00000356654.4																			1	Substitution - Missense(1)	p.L352V(1)	lung(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1054-1056)Ctg>Ttg		atrophin 1							129.0	133.0	132.0					12																	7045484		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045484C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1054C>T	12.37:g.7045484C>T						ATN1_ENST00000396684.2_Silent_p.L352L	p.L352L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1291	+			352					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1054C>T	CCDS31734.1																																																																																				0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		13	140	0	0	0	1	0	13	140				
ATP13A5	344905	broad.mit.edu	37	3	192997178	192997178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:192997178G>A	ENST00000342358.4	-	28	3409	c.3292C>T	c.(3292-3294)Caa>Taa	p.Q1098*	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1098						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATATAACTTGAAAGTCAGAA	0.358																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3292-3294)Caa>Taa		ATPase type 13A5							93.0	95.0	94.0					3																	192997178		2203	4300	6503	SO:0001587	stop_gained	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:192997178G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3292C>T	3.37:g.192997178G>A	ENSP00000341942:p.Gln1098*					ATP13A5_ENST00000495496.1_5'UTR	p.Q1098*	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	28	3409	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		1098					Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	ENST00000342358.4	37	c.3292C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	40	8.432786	0.98808	.	.	ENSG00000187527	ENST00000342358	.	.	.	5.14	4.24	0.50183	.	0.247728	0.35378	N	0.003249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-5.7079	11.8296	0.52288	0.0:0.1767:0.8233:0.0	.	.	.	.	X	1098	.	ENSP00000341942:Q1098X	Q	-	1	0	ATP13A5	194479872	0.999000	0.42202	1.000000	0.80357	0.781000	0.44180	0.690000	0.25451	1.252000	0.44001	0.650000	0.86243	CAA		0.358	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		4	93	0	0	0	1	0	4	93				
FLG	2312	broad.mit.edu	37	1	152283664	152283664	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152283664G>C	ENST00000368799.1	-	3	3733	c.3698C>G	c.(3697-3699)tCa>tGa	p.S1233*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1233	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)			ACGTGACCCTGAGTGCCTGGA	0.567									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.(3697-3699)tCa>tGa		filaggrin							310.0	299.0	303.0					1																	152283664		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152283664G>C	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.3698C>G	1.37:g.152283664G>C	ENSP00000357789:p.Ser1233*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1233*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3733	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1233			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3698C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.490079	0.97607	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.61	0.57	0.17347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	3.1246	0.06403	0.1574:0.0:0.5847:0.2579	.	.	.	.	X	1233	.	ENSP00000357789:S1233X	S	-	2	0	FLG	150550288	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.489000	0.22387	-0.081000	0.12662	0.186000	0.17326	TCA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	458	0	0	0	1	0	5	458				
CUL1	8454	broad.mit.edu	37	7	148457514	148457514	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:148457514G>A	ENST00000325222.4	+	7	994	c.715G>A	c.(715-717)Gac>Aac	p.D239N	CUL1_ENST00000409469.1_Missense_Mutation_p.D239N|CUL1_ENST00000602748.1_Missense_Mutation_p.D239N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTTTTGGCTGACACAGAGAG	0.358																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(715-717)Gac>Aac		cullin 1							125.0	143.0	137.0					7																	148457514		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457514G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.715G>A	7.37:g.148457514G>A	ENSP00000326804:p.Asp239Asn					CUL1_ENST00000409469.1_Missense_Mutation_p.D239N|CUL1_ENST00000602748.1_Missense_Mutation_p.D239N	p.D239N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	994	+	Melanoma(164;0.15)		239					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.715G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942728	0.92526	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.73152	-0.72;-0.72	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.62016	1.91	0.80722	D	1	P	0.49307	0.922	P	0.49528	0.614	T	0.70791	-0.4776	10	0.18710	T	0.47	0.5225	17.2933	0.87163	0.0:0.0:1.0:0.0	.	239	Q13616	CUL1_HUMAN	N	239;239;197;166	ENSP00000387160:D239N;ENSP00000326804:D239N	ENSP00000326804:D239N	D	+	1	0	CUL1	148088447	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.993000	0.93524	2.377000	0.81083	0.585000	0.79938	GAC		0.358	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		12	180	0	0	0	1	0	12	180				
SOWAHB	345079	broad.mit.edu	37	4	77817787	77817787	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:77817787C>T	ENST00000334306.2	-	1	1215	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	406																	CTGCTCTCCTCACTGCCATCA	0.582																																						ENST00000334306.2																			0											c.(1216-1218)Gag>Aag		sosondowah ankyrin repeat domain family member B							65.0	72.0	70.0					4																	77817787		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817787C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1216G>A	4.37:g.77817787C>T	ENSP00000334879:p.Glu406Lys						p.E406K	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1215	-			406					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1216G>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639626	0.67244	.	.	ENSG00000186212	ENST00000334306	T	0.16457	2.34	4.96	4.12	0.48240	.	0.000000	0.38436	U	0.001700	T	0.15132	0.0365	L	0.32530	0.975	0.35618	D	0.809204	D	0.53312	0.959	P	0.46076	0.503	T	0.19516	-1.0303	10	0.18276	T	0.48	-19.8232	11.998	0.53214	0.0:0.9156:0.0:0.0844	.	406	A6NEL2	ANR56_HUMAN	K	406	ENSP00000334879:E406K	ENSP00000334879:E406K	E	-	1	0	ANKRD56	78036811	0.994000	0.37717	0.982000	0.44146	0.155000	0.21991	2.990000	0.49401	1.308000	0.44962	0.591000	0.81541	GAG		0.582	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		4	114	0	0	0	1	0	4	114				
HLA-A	3105	broad.mit.edu	37	6	29912276	29912276	+	Splice_Site	SNP	G	G	T	rs45540334		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:29912276G>T	ENST00000396634.1	+	7	1236		c.e7-1		HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTTTCCCAGAGCTGTCTTC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			1	Unknown(1)	p.?(1)	lung(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.e7-1		major histocompatibility complex, class I, A							77.0	73.0	74.0					6																	29912276		1511	2709	4220	SO:0001630	splice_region_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912276G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.896-1G>T	6.37:g.29912276G>T		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376802.2_Intron				P30443	1A01_HUMAN			7	1236	+								O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	ENST00000396634.1	37		CCDS34373.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025146	0.35701	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020255	0.610000	0.26983	0.642000	0.29436	0.168000	0.22595	1.352000	0.34033	2.070000	0.61991	0.485000	0.47835	.		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	Intron	4	85	1	0	0.00909568	1	0.00916356	4	85				
UBR2	23304	broad.mit.edu	37	6	42620295	42620295	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:42620295C>T	ENST00000372899.1	+	25	2939	c.2681C>T	c.(2680-2682)tCa>tTa	p.S894L	UBR2_ENST00000372901.1_Missense_Mutation_p.S894L|UBR2_ENST00000372883.3_Missense_Mutation_p.S398L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	894					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATTTTGCAGTCAGATGTCATG	0.448																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2680-2682)tCa>tTa		ubiquitin protein ligase E3 component n-recognin 2							223.0	194.0	204.0					6																	42620295		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42620295C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2681C>T	6.37:g.42620295C>T	ENSP00000361990:p.Ser894Leu					UBR2_ENST00000372901.1_Missense_Mutation_p.S894L|UBR2_ENST00000372883.3_Missense_Mutation_p.S398L	p.S894L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		25	2939	+	Colorectal(47;0.196)		894					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2681C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227331	0.58668	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.51574	0.7;0.7;0.7	5.37	4.48	0.54585	.	0.123114	0.56097	D	0.000022	T	0.31918	0.0812	L	0.54323	1.7	0.41705	D	0.989421	B;B	0.27498	0.18;0.151	B;B	0.29862	0.108;0.097	T	0.28459	-1.0043	10	0.56958	D	0.05	-5.218	14.9593	0.71144	0.0:0.7195:0.2805:0.0	.	894;894	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	L	894;894;398	ENSP00000361990:S894L;ENSP00000361992:S894L;ENSP00000361974:S398L	ENSP00000361974:S398L	S	+	2	0	UBR2	42728273	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	1.219000	0.43474	0.655000	0.94253	TCA		0.448	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		16	230	0	0	0	1	0	16	230				
MTMR7	9108	broad.mit.edu	37	8	17169112	17169112	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:17169112G>A	ENST00000180173.5	-	9	1043	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.H337Y	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	337	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCAGAACAGTGAACAAGCACA	0.537																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1009-1011)Cac>Tac		myotubularin related protein 7							314.0	295.0	301.0					8																	17169112		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17169112G>A	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1009C>T	8.37:g.17169112G>A	ENSP00000180173:p.His337Tyr					MTMR7_ENST00000521857.1_Missense_Mutation_p.H337Y|MTMR7_ENST00000398099.3_5'UTR	p.H337Y	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	9	1043	-			337			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.1009C>T	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645756	0.87958	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.91894	-2.93;-2.93	4.91	4.91	0.64330	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99399	1.0927	10	0.87932	D	0	.	18.6564	0.91455	0.0:0.0:1.0:0.0	.	337;337	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	Y	337	ENSP00000180173:H337Y;ENSP00000429733:H337Y	ENSP00000180173:H337Y	H	-	1	0	MTMR7	17213483	1.000000	0.71417	0.980000	0.43619	0.929000	0.56500	9.657000	0.98554	2.721000	0.93114	0.655000	0.94253	CAC		0.537	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		30	380	0	0	0	1	0	30	380				
ZNF215	7762	broad.mit.edu	37	11	6977082	6977082	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:6977082G>C	ENST00000278319.5	+	7	1462	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.E292Q	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	292					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTTCATTCCTGAGACAATTTA	0.363																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(874-876)Gag>Cag		zinc finger protein 215							79.0	88.0	85.0					11																	6977082		2201	4293	6494	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977082G>C	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.874G>C	11.37:g.6977082G>C	ENSP00000278319:p.Glu292Gln					ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.E292Q	p.E292Q	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1462	+			292					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.874G>C	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	3.711	-0.059604	0.07317	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.05513	3.43;3.43	4.27	0.454	0.16644	.	0.988815	0.08219	N	0.979445	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.44726	-0.9309	10	0.02654	T	1	-0.0491	3.9055	0.09180	0.4666:0.304:0.2294:0.0	.	292	Q9UL58	ZN215_HUMAN	Q	292	ENSP00000278319:E292Q;ENSP00000393202:E292Q	ENSP00000278319:E292Q	E	+	1	0	ZNF215	6933658	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.299000	0.08254	0.301000	0.22738	-0.302000	0.09304	GAG		0.363	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			10	141	0	0	0	1	0	10	141				
TPP2	7174	broad.mit.edu	37	13	103279445	103279445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:103279445C>T	ENST00000376065.4	+	7	904	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	TPP2_ENST00000376052.3_Nonsense_Mutation_p.Q290*	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	290	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTGGTGCTCAAATTCTTTC	0.458																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(868-870)Caa>Taa		tripeptidyl peptidase II							135.0	132.0	133.0					13																	103279445		2203	4300	6503	SO:0001587	stop_gained	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103279445C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.868C>T	13.37:g.103279445C>T	ENSP00000365233:p.Gln290*					TPP2_ENST00000376065.4_Nonsense_Mutation_p.Q290*	p.Q290*			P29144	TPP2_HUMAN			7	884	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		290					Q5VZU8	Nonsense_Mutation	SNP	ENST00000376065.4	37	c.868C>T	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	38	7.028059	0.98013	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-24.4861	19.9474	0.97186	0.0:1.0:0.0:0.0	.	.	.	.	X	290	.	ENSP00000365220:Q290X	Q	+	1	0	TPP2	102077446	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.413000	0.80104	2.774000	0.95407	0.655000	0.94253	CAA		0.458	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			5	111	0	0	0	1	0	5	111				
ADORA3	140	broad.mit.edu	37	1	112042929	112042929	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:112042929G>A	ENST00000241356.4	-	2	1005	c.600C>T	c.(598-600)atC>atT	p.I200I	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	200					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TGATGTAAAAGATGTCAAGAT	0.428																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(598-600)atC>atT		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						141.0	134.0	137.0					1																	112042929		2203	4300	6503	SO:0001819	synonymous_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042929G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.600C>T	1.37:g.112042929G>A						ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	p.I200I	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	1005	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	200					A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	c.600C>T	CCDS839.1																																																																																				0.428	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		6	111	0	0	0	1	0	6	111				
SIRPA	140885	broad.mit.edu	37	20	1903191	1903191	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:1903191C>T	ENST00000358771.4	+	4	1139	c.987C>T	c.(985-987)ctC>ctT	p.L329L	SIRPA_ENST00000356025.3_Silent_p.L329L|SIRPA_ENST00000400068.3_Silent_p.L329L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	329	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ATGTGAAGCTCACCTGCCAGG	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(985-987)ctC>ctT		signal-regulatory protein alpha							88.0	72.0	77.0					20																	1903191		2203	4294	6497	SO:0001819	synonymous_variant	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1903191C>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.987C>T	20.37:g.1903191C>T						SIRPA_ENST00000400068.3_Silent_p.L329L|SIRPA_ENST00000356025.3_Silent_p.L329L	p.L329L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1139	+			329			Ig-like C1-type 2.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	c.987C>T	CCDS13022.1																																																																																				0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		6	50	0	0	0	1	0	6	50				
C2orf42	54980	broad.mit.edu	37	2	70406677	70406677	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:70406677C>T	ENST00000264434.2	-	4	1300	c.921G>A	c.(919-921)aaG>aaA	p.K307K	C2orf42_ENST00000470096.1_5'Flank|C2orf42_ENST00000420306.1_Silent_p.K307K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	307										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ATACTTCATCCTTTCTCCTCT	0.393																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(919-921)aaG>aaA		chromosome 2 open reading frame 42							130.0	129.0	129.0					2																	70406677		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70406677C>T	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.921G>A	2.37:g.70406677C>T						C2orf42_ENST00000420306.1_Silent_p.K307K	p.K307K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			4	1300	-			307					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.921G>A	CCDS1899.1																																																																																				0.393	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		8	90	0	0	0	1	0	8	90				
RAB3GAP1	22930	broad.mit.edu	37	2	135908057	135908057	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:135908057C>T	ENST00000264158.8	+	18	2085	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S681L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S637L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	681					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTCTGCTCTCAGATATGGAG	0.468																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2041-2043)tCa>tTa		RAB3 GTPase activating protein subunit 1 (catalytic)							69.0	68.0	68.0					2																	135908057		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135908057C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2042C>T	2.37:g.135908057C>T	ENSP00000264158:p.Ser681Leu					RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S637L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S681L	p.S681L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	18	2085	+			681					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2042C>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235023	0.95207	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.72725	-0.66;-0.67;-0.68	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90126	0.4203	10	0.87932	D	0	-13.5539	19.8893	0.96923	0.0:1.0:0.0:0.0	.	681;681	C9J837;Q15042	.;RB3GP_HUMAN	L	681;637;681	ENSP00000264158:S681L;ENSP00000444306:S637L;ENSP00000411418:S681L	ENSP00000264158:S681L	S	+	2	0	RAB3GAP1	135624527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.778000	0.85637	2.704000	0.92352	0.585000	0.79938	TCA		0.468	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		6	70	0	0	0	1	0	6	70				
GLS2	27165	broad.mit.edu	37	12	56865935	56865935	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:56865935G>A	ENST00000311966.4	-	16	1834	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	GLS2_ENST00000476991.1_5'Flank|MIP_ENST00000555551.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	519					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	AGCTGTGCGCGAGTCATAGTC	0.493																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1555-1557)tCg>tTg		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						140.0	132.0	135.0					12																	56865935		2203	4300	6503	SO:0001583	missense	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56865935G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1556C>T	12.37:g.56865935G>A	ENSP00000310447:p.Ser519Leu						p.S519L	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			16	1834	-			519					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.1556C>T	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209131	0.79240	.	.	ENSG00000135423	ENST00000311966	T	0.34072	1.38	4.94	4.94	0.65067	Ankyrin repeat-containing domain (4);	0.109054	0.64402	D	0.000005	T	0.23806	0.0576	N	0.04959	-0.14	0.80722	D	1	P	0.43231	0.801	B	0.41571	0.36	T	0.13308	-1.0514	10	0.45353	T	0.12	-39.1932	17.8092	0.88610	0.0:0.0:1.0:0.0	.	519	Q9UI32	GLSL_HUMAN	L	519	ENSP00000310447:S519L	ENSP00000310447:S519L	S	-	2	0	GLS2	55152202	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.953000	0.63624	2.666000	0.90696	0.655000	0.94253	TCG		0.493	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		26	150	0	0	0	1	0	26	150				
SNX30	401548	broad.mit.edu	37	9	115593065	115593065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:115593065G>A	ENST00000374232.3	+	4	684	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	174	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGAGTTTGTGGAGACCAGAAG	0.368																																						ENST00000374232.3																			0				large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(520-522)Gag>Aag		sorting nexin family member 30							132.0	123.0	126.0					9																	115593065		1836	4083	5919	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115593065G>A	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.520G>A	9.37:g.115593065G>A	ENSP00000363349:p.Glu174Lys						p.E174K	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN			4	684	+			174			PX.			Missense_Mutation	SNP	ENST00000374232.3	37	c.520G>A	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304718	0.81247	.	.	ENSG00000148158	ENST00000374232	T	0.46063	0.88	5.59	4.69	0.59074	Phox homologous domain (5);	0.054512	0.64402	D	0.000001	T	0.37865	0.1019	L	0.58510	1.815	0.58432	D	0.999998	P	0.41265	0.744	B	0.33254	0.16	T	0.38950	-0.9637	10	0.54805	T	0.06	.	14.5317	0.67931	0.0704:0.0:0.9296:0.0	.	174	Q5VWJ9	SNX30_HUMAN	K	174	ENSP00000363349:E174K	ENSP00000363349:E174K	E	+	1	0	SNX30	114632886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.785000	0.75089	1.484000	0.48361	0.655000	0.94253	GAG		0.368	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			8	120	0	0	0	1	0	8	120				
DIP2B	57609	broad.mit.edu	37	12	51116998	51116998	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51116998C>T	ENST00000301180.5	+	27	3214	c.3180C>T	c.(3178-3180)atC>atT	p.I1060I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1060						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTGAGTTAATCGCCGCCTTCT	0.502																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3178-3180)atC>atT		DIP2 disco-interacting protein 2 homolog B (Drosophila)							143.0	128.0	133.0					12																	51116998		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51116998C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3180C>T	12.37:g.51116998C>T							p.I1060I	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			27	3214	+			1060					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.3180C>T	CCDS31799.1																																																																																				0.502	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		18	138	0	0	0	1	0	18	138				
TEK	7010	broad.mit.edu	37	9	27209227	27209227	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:27209227G>A	ENST00000380036.4	+	16	3126	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	TEK_ENST00000406359.4_Missense_Mutation_p.R852Q|TEK_ENST00000519097.1_Missense_Mutation_p.R747Q	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGTGAACATCGAGGTAAGATG	0.383																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2683-2685)cGa>cAa		TEK tyrosine kinase, endothelial							105.0	85.0	92.0					9																	27209227		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27209227G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2684G>A	9.37:g.27209227G>A	ENSP00000369375:p.Arg895Gln					TEK_ENST00000406359.4_Missense_Mutation_p.R852Q|TEK_ENST00000519097.1_Missense_Mutation_p.R747Q	p.R895Q	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	16	3126	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	895			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2684G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654239	0.96724	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69306	-0.39;-0.39;-0.39	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44097	D	0.000481	T	0.75774	0.3895	L	0.33245	0.995	0.80722	D	1	D;D;D;D	0.89917	0.999;0.961;1.0;0.999	D;B;D;D	0.77004	0.98;0.271;0.989;0.98	T	0.73874	-0.3845	10	0.42905	T	0.14	.	20.221	0.98325	0.0:0.0:1.0:0.0	.	747;928;852;895	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	Q	747;895;852	ENSP00000430686:R747Q;ENSP00000369375:R895Q;ENSP00000383977:R852Q	ENSP00000369375:R895Q	R	+	2	0	TEK	27199227	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.743000	0.74848	2.784000	0.95788	0.643000	0.83706	CGA		0.383	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			4	42	0	0	0	1	0	4	42				
TM4SF19	116211	broad.mit.edu	37	3	196054326	196054326	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:196054326G>C	ENST00000273695.3	-	2	261	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	TM4SF19_ENST00000454715.1_Missense_Mutation_p.L46V|TM4SF19_ENST00000446879.1_Missense_Mutation_p.L46V|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.L46V	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	46						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCCCTCAACAGGTAGGTGACA	0.607																																						ENST00000446879.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(136-138)Ctg>Gtg		transmembrane 4 L six family member 19							92.0	82.0	85.0					3																	196054326		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196054326G>C	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.136C>G	3.37:g.196054326G>C	ENSP00000273695:p.Leu46Val					TM4SF19_ENST00000454715.1_Missense_Mutation_p.L46V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.L46V	p.L46V			Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	261	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		46					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.136C>G	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131354	0.37630	.	.	ENSG00000145107	ENST00000446879;ENST00000454715;ENST00000273695	T;T;T	0.30182	1.54;1.54;1.54	5.71	4.73	0.59995	.	0.235594	0.28130	N	0.016492	T	0.41488	0.1161	L	0.50333	1.59	0.28847	N	0.896288	D;D;D	0.76494	0.997;0.979;0.999	D;D;D	0.87578	0.997;0.982;0.998	T	0.27938	-1.0059	10	0.02654	T	1	-5.8439	10.4525	0.44531	0.0984:0.0:0.9016:0.0	.	46;46;46	E9PH22;C9JCD5;Q96DZ7	.;.;T4S19_HUMAN	V	46	ENSP00000395280:L46V;ENSP00000387728:L46V;ENSP00000273695:L46V	ENSP00000273695:L46V	L	-	1	2	TM4SF19	197538723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.063000	0.30567	1.233000	0.43693	0.655000	0.94253	CTG		0.607	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		12	129	0	0	0	1	0	12	129				
STAB2	55576	broad.mit.edu	37	12	104069774	104069774	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:104069774T>A	ENST00000388887.2	+	24	2825	c.2621T>A	c.(2620-2622)cTa>cAa	p.L874Q		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCACAGGACTAACTCCAGGA	0.453																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2620-2622)cTa>cAa		stabilin 2							119.0	104.0	109.0					12																	104069774		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104069774T>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2621T>A	12.37:g.104069774T>A	ENSP00000373539:p.Leu874Gln						p.L874Q	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			24	2825	+			874			EGF-like 8.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2621T>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	5.524	0.281682	0.10458	.	.	ENSG00000136011	ENST00000388887	T	0.02890	4.12	4.61	-4.69	0.03299	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.827138	0.10701	N	0.644075	T	0.02571	0.0078	L	0.33485	1.01	0.09310	N	1	P	0.34780	0.468	B	0.36030	0.216	T	0.32134	-0.9918	10	0.13108	T	0.6	.	13.6369	0.62227	0.0:0.6167:0.0:0.3833	.	874	Q8WWQ8	STAB2_HUMAN	Q	874	ENSP00000373539:L874Q	ENSP00000373539:L874Q	L	+	2	0	STAB2	102593904	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.050000	0.14120	-1.377000	0.02123	-0.441000	0.05720	CTA		0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	60	0	0	0	1	0	4	60				
CCDC63	160762	broad.mit.edu	37	12	111296483	111296483	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:111296483G>A	ENST00000308208.5	+	4	515	c.273G>A	c.(271-273)aaG>aaA	p.K91K	CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Silent_p.K51K|CCDC63_ENST00000552694.1_Silent_p.K12K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	91										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGAGTGAGAAGAACTACATGG	0.478																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(271-273)aaG>aaA		coiled-coil domain containing 63							144.0	129.0	134.0					12																	111296483		2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111296483G>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.273G>A	12.37:g.111296483G>A						CCDC63_ENST00000545036.1_Silent_p.K51K|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_Silent_p.K12K	p.K91K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			4	515	+			91					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.273G>A	CCDS9151.1																																																																																				0.478	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		4	70	0	0	0	1	0	4	70				
SLC25A25	114789	broad.mit.edu	37	9	130854214	130854214	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:130854214G>A	ENST00000373066.5	+	1	472	c.65G>A	c.(64-66)aGa>aAa	p.R22K	RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R22K	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CACGGCTCCAGAGAGGGGGAC	0.597																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(64-66)aGa>aAa		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							112.0	124.0	120.0					9																	130854214		1951	4142	6093	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130854214G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.65G>A	9.37:g.130854214G>A	ENSP00000362157:p.Arg22Lys					RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R22K|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron	p.R22K	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			1	472	+			0					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373066.5	37	c.65G>A	CCDS59146.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102115	0.37048	.	.	ENSG00000148339	ENST00000432073;ENST00000373066	T;T	0.79749	-1.08;-1.3	6.07	3.13	0.36017	.	.	.	.	.	T	0.68393	0.2996	.	.	.	0.80722	D	1	B;B	0.17465	0.011;0.022	B;B	0.15484	0.013;0.012	T	0.59710	-0.7403	8	0.13853	T	0.58	.	15.0936	0.72217	0.0:0.584:0.416:0.0	.	22;22	Q6KCM7-5;Q6KCM7-4	.;.	K	22	ENSP00000410053:R22K;ENSP00000362157:R22K	ENSP00000362157:R22K	R	+	2	0	SLC25A25	129894035	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.590000	0.46154	0.869000	0.35703	-0.165000	0.13383	AGA		0.597	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901		9	169	0	0	0	1	0	9	169				
SLC11A2	4891	broad.mit.edu	37	12	51402270	51402270	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51402270G>C	ENST00000262051.7	-	3	259	c.172C>G	c.(172-174)Cct>Gct	p.P58A	SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000545993.2_Missense_Mutation_p.P54A|SLC11A2_ENST00000262052.5_Missense_Mutation_p.P58A|SLC11A2_ENST00000547198.1_Missense_Mutation_p.P58A|SLC11A2_ENST00000547688.1_Missense_Mutation_p.P87A|SLC11A2_ENST00000394904.3_Missense_Mutation_p.P87A|SLC11A2_ENST00000541174.2_Missense_Mutation_p.P58A	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	58				PE -> GM (in Ref. 11; AAA79219). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TCCTCCTCAGGAATGGAGATC	0.483																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(259-261)Cct>Gct		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							108.0	98.0	101.0					12																	51402270		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51402270G>C	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.172C>G	12.37:g.51402270G>C	ENSP00000262051:p.Pro58Ala					SLC11A2_ENST00000545993.2_Missense_Mutation_p.P54A|SLC11A2_ENST00000541174.2_Missense_Mutation_p.P58A|SLC11A2_ENST00000547198.1_Missense_Mutation_p.P58A|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000262051.7_Missense_Mutation_p.P58A|SLC11A2_ENST00000262052.5_Missense_Mutation_p.P58A|SLC11A2_ENST00000547688.1_Missense_Mutation_p.P87A|SLC11A2_ENST00000546743.1_5'UTR	p.P87A	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			3	308	-			58					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.259C>G	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513868	0.85389	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546488;ENST00000548193	T;T;T;T;T;T;T;T	0.52526	1.78;1.78;1.78;1.75;1.75;1.78;1.79;0.66	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D	0.57257	0.963;0.979;0.979;0.979;0.963	P;P;P;P;P	0.62014	0.792;0.897;0.897;0.897;0.792	T	0.69412	-0.5152	10	0.72032	D	0.01	-8.9455	16.8219	0.85748	0.0:0.0:1.0:0.0	.	21;54;87;58;58	B7Z9M2;F5H741;P49281-3;P49281-2;P49281	.;.;.;.;NRAM2_HUMAN	A	58;58;58;87;87;58;54;58;58	ENSP00000262051:P58A;ENSP00000446769:P58A;ENSP00000262052:P58A;ENSP00000378364:P87A;ENSP00000449200:P87A;ENSP00000444542:P58A;ENSP00000442810:P54A;ENSP00000449209:P58A	ENSP00000262051:P58A	P	-	1	0	SLC11A2	49688537	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.089000	0.76909	2.836000	0.97738	0.655000	0.94253	CCT		0.483	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			14	178	0	0	0	1	0	14	178				
HSPH1	10808	broad.mit.edu	37	13	31725112	31725112	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:31725112C>G	ENST00000320027.5	-	7	1224	c.880G>C	c.(880-882)Gat>Cat	p.D294H	HSPH1_ENST00000380406.5_Missense_Mutation_p.D253H|HSPH1_ENST00000429785.2_Missense_Mutation_p.D113H|HSPH1_ENST00000445273.2_Missense_Mutation_p.D296H|HSPH1_ENST00000380405.4_Missense_Mutation_p.D294H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	294					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACATCTTTATCATTCATAAAG	0.388																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(880-882)Gat>Cat		heat shock 105kDa/110kDa protein 1							116.0	106.0	110.0					13																	31725112		2201	4300	6501	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31725112C>G	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.880G>C	13.37:g.31725112C>G	ENSP00000318687:p.Asp294His					HSPH1_ENST00000445273.2_Missense_Mutation_p.D296H|HSPH1_ENST00000380405.4_Missense_Mutation_p.D294H|HSPH1_ENST00000429785.2_Missense_Mutation_p.D113H|HSPH1_ENST00000380406.5_Missense_Mutation_p.D253H	p.D294H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	7	1224	-		Lung SC(185;0.0257)	294					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.880G>C	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642425	0.67244	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.01203	5.18;5.18;5.18;5.18;5.18	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.93678	3.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999	T	0.00583	-1.1659	10	0.87932	D	0	-33.7561	20.1554	0.98111	0.0:1.0:0.0:0.0	.	113;253;296;294;294	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	H	294;294;253;296;113;345	ENSP00000318687:D294H;ENSP00000369768:D294H;ENSP00000369769:D253H;ENSP00000396090:D296H;ENSP00000388778:D113H	ENSP00000318687:D294H	D	-	1	0	HSPH1	30623112	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	7.445000	0.80570	2.838000	0.97847	0.591000	0.81541	GAT		0.388	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			5	109	0	0	0	1	0	5	109				
BAIAP2L1	55971	broad.mit.edu	37	7	97949564	97949564	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:97949564C>G	ENST00000005260.8	-	4	476	c.261G>C	c.(259-261)gaG>gaC	p.E87D	RP11-307C18.1_ENST00000610062.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	87	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CATCAAGACTCTCGTTGAGTT	0.353																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(259-261)gaG>gaC		BAI1-associated protein 2-like 1							96.0	91.0	93.0					7																	97949564		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97949564C>G	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.261G>C	7.37:g.97949564C>G	ENSP00000005260:p.Glu87Asp					BAIAP2L1_ENST00000462558.1_5'UTR	p.E87D	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	476	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		87			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.261G>C	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211339	0.39102	.	.	ENSG00000006453	ENST00000005260	T	0.21361	2.01	5.55	1.53	0.23141	IRSp53/MIM homology domain (IMD) (3);	0.346055	0.34002	N	0.004353	T	0.06234	0.0161	N	0.02142	-0.665	0.31491	N	0.665931	B	0.06786	0.001	B	0.13407	0.009	T	0.34179	-0.9839	10	0.11182	T	0.66	-1.3553	7.5234	0.27641	0.0:0.3366:0.4826:0.1808	.	87	Q9UHR4	BI2L1_HUMAN	D	87	ENSP00000005260:E87D	ENSP00000005260:E87D	E	-	3	2	AC093799.1	97787500	0.994000	0.37717	0.996000	0.52242	0.992000	0.81027	0.282000	0.18829	0.300000	0.22699	0.655000	0.94253	GAG		0.353	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		4	68	0	0	0	1	0	4	68				
IQUB	154865	broad.mit.edu	37	7	123152314	123152314	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:123152314G>A	ENST00000466202.1	-	2	657	c.81C>T	c.(79-81)gtC>gtT	p.V27V	IQUB_ENST00000324698.6_Silent_p.V27V|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Silent_p.V27V	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	27					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTGGAATAGTGACAGTATCAA	0.373																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(79-81)gtC>gtT		IQ motif and ubiquitin domain containing							143.0	133.0	136.0					7																	123152314		2203	4300	6503	SO:0001819	synonymous_variant	154865							g.chr7:123152314G>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.81C>T	7.37:g.123152314G>A						IQUB_ENST00000434450.1_Silent_p.V27V|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.V27V	p.V27V			Q8NA54	IQUB_HUMAN			2	657	-			27					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.81C>T	CCDS5787.1																																																																																				0.373	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		7	122	0	0	0	1	0	7	122				
ZSCAN4	201516	broad.mit.edu	37	19	58187634	58187634	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:58187634G>A	ENST00000318203.5	+	3	818	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	41					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)		AGGGATTTCTGAGTTCTCAAG	0.398																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(121-123)Gag>Aag		zinc finger and SCAN domain containing 4							104.0	101.0	102.0					19																	58187634		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.chr19:58187634G>A	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.121G>A	19.37:g.58187634G>A	ENSP00000321963:p.Glu41Lys						p.E41K	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	818	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	41					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.121G>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	8.762	0.923725	0.18056	.	.	ENSG00000180532	ENST00000318203	T	0.09538	2.97	4.42	-0.0573	0.13802	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (1);	2.134210	0.02314	N	0.072415	T	0.18635	0.0447	M	0.83384	2.64	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.38650	-0.9651	10	0.59425	D	0.04	2.9526	6.7666	0.23571	0.3889:0.0:0.6111:0.0	.	41	Q8NAM6	ZSCA4_HUMAN	K	41	ENSP00000321963:E41K	ENSP00000321963:E41K	E	+	1	0	ZSCAN4	62879446	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.495000	0.22483	0.108000	0.17862	-0.150000	0.13652	GAG		0.398	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		8	107	0	0	0	1	0	8	107				
PAMR1	25891	broad.mit.edu	37	11	35456291	35456291	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:35456291C>G	ENST00000378880.2	-	10	1840	c.1395G>C	c.(1393-1395)caG>caC	p.Q465H	PAMR1_ENST00000532848.1_Missense_Mutation_p.Q425H|PAMR1_ENST00000378878.3_Missense_Mutation_p.Q354H|PAMR1_ENST00000278360.3_Missense_Mutation_p.Q482H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	465	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGATGGCTGCCTGCCACGGCC	0.562																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1393-1395)caG>caC		peptidase domain containing associated with muscle regeneration 1							93.0	84.0	87.0					11																	35456291		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456291C>G		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1395G>C	11.37:g.35456291C>G	ENSP00000368158:p.Gln465His					PAMR1_ENST00000532848.1_Missense_Mutation_p.Q425H|PAMR1_ENST00000278360.3_Missense_Mutation_p.Q482H|PAMR1_ENST00000378878.3_Missense_Mutation_p.Q354H	p.Q465H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			10	1840	-			465			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1395G>C	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600771	0.46423	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75	5.37	2.02	0.26589	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.059855	0.64402	D	0.000002	D	0.92718	0.7685	L	0.59436	1.845	0.41788	D	0.989858	D;P;D	0.71674	0.998;0.476;0.998	D;B;D	0.83275	0.996;0.202;0.927	D	0.91645	0.5330	10	0.87932	D	0	.	8.9158	0.35581	0.0:0.64:0.0:0.36	.	354;465;482	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	H	482;465;354;425;442	ENSP00000278360:Q482H;ENSP00000368158:Q465H;ENSP00000368156:Q354H;ENSP00000433868:Q425H;ENSP00000432591:Q442H	ENSP00000278360:Q482H	Q	-	3	2	PAMR1	35412867	1.000000	0.71417	0.979000	0.43373	0.731000	0.41821	1.153000	0.31676	0.658000	0.30925	0.561000	0.74099	CAG		0.562	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		9	99	0	0	0	1	0	9	99				
CPS1	1373	broad.mit.edu	37	2	211421499	211421499	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:211421499G>A	ENST00000233072.5	+	1	238	c.42G>A	c.(40-42)ctG>ctA	p.L14L	CPS1_ENST00000430249.2_Silent_p.L20L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	14					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGAGGACACTGAAGACTGGTT	0.363																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(40-42)ctG>ctA		carbamoyl-phosphate synthase 1, mitochondrial							97.0	99.0	99.0					2																	211421499		2203	4299	6502	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211421499G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.42G>A	2.37:g.211421499G>A						CPS1_ENST00000430249.2_Silent_p.L20L	p.L14L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	1	238	+			14					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.42G>A	CCDS2393.1																																																																																				0.363	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			9	125	0	0	0	1	0	9	125				
DNAH11	8701	broad.mit.edu	37	7	21904161	21904161	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:21904161G>A	ENST00000409508.3	+	70	11413	c.11382G>A	c.(11380-11382)ttG>ttA	p.L3794L	DNAH11_ENST00000328843.6_Silent_p.L3801L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3801					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGATTTTGTTGAGAAAGAAAG	0.378									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(11401-11403)ttG>ttA		dynein, axonemal, heavy chain 11							94.0	90.0	92.0					7																	21904161		1850	4092	5942	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21904161G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11382G>A	7.37:g.21904161G>A						DNAH11_ENST00000409508.3_Silent_p.L3794L	p.L3801L			Q96DT5	DYH11_HUMAN			71	11434	+			3801					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.11403G>A																																																																																					0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	120	0	0	0	1	0	5	120				
FCGR2A	2212	broad.mit.edu	37	1	161479635	161479635	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:161479635C>T	ENST00000271450.6	+	4	428	c.390C>T	c.(388-390)caC>caT	p.H130H	FCGR2A_ENST00000367972.4_Silent_p.H129H	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	130	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACCCCTCACCTGGAGTTCC	0.468																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(388-390)caC>caT		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						86.0	89.0	88.0					1																	161479635		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479635C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.390C>T	1.37:g.161479635C>T						FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.H129H	p.H130H	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	428	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		130			Ig-like C2-type 2.		Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.390C>T	CCDS44264.1																																																																																				0.468	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		11	130	0	0	0	1	0	11	130				
GAPDH	2597	broad.mit.edu	37	12	6647075	6647075	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:6647075C>G	ENST00000229239.5	+	8	1517	c.851C>G	c.(850-852)tCt>tGt	p.S284C	GAPDH_ENST00000396861.1_Missense_Mutation_p.S284C|GAPDH_ENST00000396858.1_Missense_Mutation_p.S242C|GAPDH_ENST00000396856.1_Missense_Mutation_p.S209C|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396859.1_Missense_Mutation_p.S284C	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	284					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						GTGGTCTCCTCTGACTTCAAC	0.567											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(850-852)tCt>tGt		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						39.0	43.0	41.0					12																	6647075		2203	4299	6502	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6647075C>G	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.851C>G	12.37:g.6647075C>G	ENSP00000229239:p.Ser284Cys		OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	GAPDH_ENST00000396858.1_Missense_Mutation_p.S242C|GAPDH_ENST00000396861.1_Missense_Mutation_p.S284C|GAPDH_ENST00000396856.1_Missense_Mutation_p.S209C|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396859.1_Missense_Mutation_p.S284C	p.S284C	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			8	1517	+			284					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.851C>G	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	C	0.199	-1.046513	0.01997	.	.	ENSG00000111640	ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.84	3.95	0.45737	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.179711	0.49916	N	0.000132	T	0.46425	0.1392	L	0.28740	0.885	0.24335	N	0.994987	D;D;B;B	0.89917	1.0;1.0;0.0;0.001	D;D;B;B	0.67382	0.951;0.951;0.001;0.005	T	0.35798	-0.9774	10	0.16420	T	0.52	.	12.4517	0.55681	0.0:0.1952:0.8048:0.0	.	242;284;209;284	E7EUT4;Q2TSD0;E7EUT5;P04406	.;.;.;G3P_HUMAN	C	284;209;284;284;242	ENSP00000229239:S284C;ENSP00000380065:S209C;ENSP00000380070:S284C;ENSP00000380068:S284C;ENSP00000380067:S242C	ENSP00000229239:S284C	S	+	2	0	GAPDH	6517336	1.000000	0.71417	0.792000	0.32020	0.725000	0.41563	3.914000	0.56401	1.044000	0.40200	0.556000	0.70494	TCT		0.567	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		5	60	0	0	0	1	0	5	60				
VRK2	7444	broad.mit.edu	37	2	58386584	58386584	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:58386584C>G	ENST00000435505.2	+	16	2028	c.1283C>G	c.(1282-1284)tCa>tGa	p.S428*	FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S405*|FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000417641.2_3'UTR|VRK2_ENST00000412104.2_3'UTR|VRK2_ENST00000340157.4_Nonsense_Mutation_p.S428*|FANCL_ENST00000403295.3_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	428	Interaction with MAP3K7.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTCCCAAACTCATTTTATGAG	0.378																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(1282-1284)tCa>tGa		vaccinia related kinase 2							65.0	68.0	67.0					2																	58386584		2203	4299	6502	SO:0001587	stop_gained	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58386584C>G	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1283C>G	2.37:g.58386584C>G	ENSP00000408002:p.Ser428*					FANCL_ENST00000402135.3_3'UTR|FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S405*|FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000340157.4_Nonsense_Mutation_p.S428*|VRK2_ENST00000417641.2_3'UTR|VRK2_ENST00000412104.2_3'UTR	p.S428*			Q86Y07	VRK2_HUMAN			16	2028	+			428					B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Nonsense_Mutation	SNP	ENST00000435505.2	37	c.1283C>G	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872775	0.91587	.	.	ENSG00000028116	ENST00000435505;ENST00000340157;ENST00000440705	.	.	.	6.16	6.16	0.99307	.	0.351464	0.24544	N	0.037614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-3.1259	16.3599	0.83257	0.0:1.0:0.0:0.0	.	.	.	.	X	428;428;405	.	ENSP00000342381:S428X	S	+	2	0	VRK2	58240088	0.037000	0.19845	0.018000	0.16275	0.139000	0.21198	3.979000	0.56888	2.937000	0.99478	0.650000	0.86243	TCA		0.378	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		7	86	0	0	0	1	0	7	86				
NOTCH4	4855	broad.mit.edu	37	6	32185850	32185850	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:32185850C>G	ENST00000375023.3	-	9	1684	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	516	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGGCACACTCGTTGGTCTCC	0.607																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1546-1548)Gag>Cag		notch 4							136.0	90.0	106.0					6																	32185850		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32185850C>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1546G>C	6.37:g.32185850C>G	ENSP00000364163:p.Glu516Gln						p.E516Q	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			9	1684	-			516			EGF-like 13; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1546G>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184985	0.57909	.	.	ENSG00000204301	ENST00000375023	T	0.67698	-0.28	4.21	4.21	0.49690	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.44688	D	0.000437	T	0.78130	0.4235	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.937	T	0.81718	-0.0805	10	0.72032	D	0.01	.	14.0806	0.64919	0.0:1.0:0.0:0.0	.	516;516	Q6P3V5;Q99466	.;NOTC4_HUMAN	Q	516	ENSP00000364163:E516Q	ENSP00000364163:E516Q	E	-	1	0	NOTCH4	32293828	1.000000	0.71417	0.910000	0.35882	0.026000	0.11368	6.703000	0.74633	2.166000	0.68216	0.462000	0.41574	GAG		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	17	0	0	0	1	0	3	17				
BRAP	8315	broad.mit.edu	37	12	112110555	112110555	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:112110555C>T	ENST00000327551.6	-	5	707	c.567G>A	c.(565-567)atG>atA	p.M189I	BRAP_ENST00000539060.1_Intron|BRAP_ENST00000419234.4_Missense_Mutation_p.M219I			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CATTGCATGTCATATAAAAAC	0.393																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(655-657)atG>atA		BRCA1 associated protein							88.0	78.0	81.0					12																	112110555		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112110555C>T	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.567G>A	12.37:g.112110555C>T	ENSP00000330813:p.Met189Ile					BRAP_ENST00000327551.6_Missense_Mutation_p.M189I|BRAP_ENST00000539060.1_Intron	p.M219I	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			5	850	-			219					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.657G>A		.	.	.	.	.	.	.	.	.	.	C	12.26	1.883864	0.33255	.	.	ENSG00000089234	ENST00000419234;ENST00000327551;ENST00000547043	T;T	0.42513	0.97;0.98	5.49	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);BRCA1-associated 2 (2);	0.128661	0.64402	N	0.000001	T	0.30665	0.0772	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.17433	0.018	T	0.05162	-1.0902	10	0.37606	T	0.19	-6.9034	11.017	0.47696	0.0:0.8419:0.0:0.1581	.	219	Q7Z569	BRAP_HUMAN	I	219;189;1	ENSP00000403524:M219I;ENSP00000330813:M189I	ENSP00000330813:M189I	M	-	3	0	BRAP	110594938	1.000000	0.71417	0.997000	0.53966	0.640000	0.38277	2.289000	0.43523	0.617000	0.30160	-0.378000	0.06908	ATG		0.393	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			6	106	0	0	0	1	0	6	106				
PCDH11Y	83259	broad.mit.edu	37	Y	5605718	5605718	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrY:5605718C>T	ENST00000215473.6	+	6	3758	c.3758C>T	c.(3757-3759)tCt>tTt	p.S1253F				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1253					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAGCTCTTCTCTGCCACAG	0.547																																						ENST00000215473.6																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3757-3759)tCt>tTt		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605718C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3758C>T	Y.37:g.5605718C>T	ENSP00000215473:p.Ser1253Phe						p.S1253F			Q9BZA8	PC11Y_HUMAN			6	3758	+			1253					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3758C>T																																																																																					0.547	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		4	108	0	0	0	1	0	4	108				
CD38	952	broad.mit.edu	37	4	15850161	15850161	+	Splice_Site	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:15850161G>C	ENST00000226279.3	+	8	976		c.e8-1			NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCTTGTCATAGACCTGACAAG	0.448																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.e8-1		CD38 molecule							160.0	135.0	143.0					4																	15850161		2203	4300	6503	SO:0001630	splice_region_variant	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15850161G>C	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.840-1G>C	4.37:g.15850161G>C								NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			8	976	+								O00121|O00122|Q96HY4	Splice_Site	SNP	ENST00000226279.3	37		CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278461	0.23307	.	.	ENSG00000004468	ENST00000226279	.	.	.	5.07	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.48511	D	0.999664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4584	0.38769	0.0952:0.0:0.9048:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD38	15459259	0.693000	0.27728	0.029000	0.17559	0.002000	0.02628	3.581000	0.53914	1.502000	0.48669	0.650000	0.86243	.		0.448	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	Intron	7	62	0	0	0	1	0	7	62				
ANXA5	308	broad.mit.edu	37	4	122605900	122605900	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:122605900G>A	ENST00000296511.5	-	4	406	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	41					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GATGTCAACAGAGTCAGGATG	0.468																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(121-123)Ctg>Ttg		annexin A5							192.0	161.0	172.0					4																	122605900		2203	4300	6503	SO:0001819	synonymous_variant	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122605900G>A	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.121C>T	4.37:g.122605900G>A						ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000509016.1_5'UTR	p.L41L	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			4	406	-			41					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	c.121C>T	CCDS3720.1																																																																																				0.468	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		8	137	0	0	0	1	0	8	137				
AKAP6	9472	broad.mit.edu	37	14	33014457	33014457	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:33014457G>A	ENST00000280979.4	+	4	768	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	AKAP6_ENST00000557272.1_Missense_Mutation_p.E200K|AKAP6_ENST00000557354.1_Missense_Mutation_p.E200K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	200					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTCTCTAACAGAAGTGGATGA	0.398																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(598-600)Gaa>Aaa		A kinase (PRKA) anchor protein 6							135.0	130.0	131.0					14																	33014457		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014457G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.598G>A	14.37:g.33014457G>A	ENSP00000280979:p.Glu200Lys					AKAP6_ENST00000557354.1_Missense_Mutation_p.E200K|AKAP6_ENST00000557272.1_Missense_Mutation_p.E200K	p.E200K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	768	+	Breast(36;0.0388)|Prostate(35;0.15)		200					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.598G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899055	0.91962	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.35421	2.57;1.33;1.31	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77004	0.989;0.989	T	0.61128	-0.7125	10	0.87932	D	0	-19.8039	20.6634	0.99662	0.0:0.0:1.0:0.0	.	200;200	A7E242;Q13023	.;AKAP6_HUMAN	K	200	ENSP00000280979:E200K;ENSP00000450531:E200K;ENSP00000451247:E200K	ENSP00000280979:E200K	E	+	1	0	AKAP6	32084208	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	9.044000	0.93805	2.894000	0.99253	0.655000	0.94253	GAA		0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		4	149	0	0	0	1	0	4	149				
FAM160B1	57700	broad.mit.edu	37	10	116595331	116595331	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:116595331C>T	ENST00000369248.4	+	4	665	c.330C>T	c.(328-330)ttC>ttT	p.F110F	FAM160B1_ENST00000369250.3_Silent_p.F110F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	110										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTTTGGTTTTCTATACGAAAC	0.423																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(328-330)ttC>ttT		family with sequence similarity 160, member B1							63.0	66.0	65.0					10																	116595331		2203	4300	6503	SO:0001819	synonymous_variant	57700							g.chr10:116595331C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.330C>T	10.37:g.116595331C>T						FAM160B1_ENST00000369250.3_Silent_p.F110F	p.F110F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			4	665	+			110					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.330C>T	CCDS31290.1																																																																																				0.423	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		4	64	0	0	0	1	0	4	64				
MPP1	4354	broad.mit.edu	37	X	154019323	154019323	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:154019323C>T	ENST00000369534.3	-	4	493	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MPP1_ENST00000413259.3_Missense_Mutation_p.E86K|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.E116K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	116	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTAGGATCTCATCCCCCACG	0.418																																						ENST00000413259.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(256-258)Gag>Aag		membrane protein, palmitoylated 1, 55kDa							229.0	188.0	202.0					X																	154019323		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154019323C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.346G>A	X.37:g.154019323C>T	ENSP00000358547:p.Glu116Lys					MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.E116K|MPP1_ENST00000393531.1_Missense_Mutation_p.E116K	p.E86K	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			5	648	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		116			PDZ.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.256G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245519	0.95272	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000369531	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.61	5.61	0.85477	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.63169	1.94	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;1.0;1.0	T	0.29610	-1.0006	10	0.27785	T	0.31	.	17.0599	0.86544	0.0:1.0:0.0:0.0	.	99;86;116;116	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	K	116;86;116;70;99	ENSP00000358547:E116K;ENSP00000400155:E86K;ENSP00000377165:E116K;ENSP00000377163:E70K;ENSP00000358544:E99K	ENSP00000358544:E99K	E	-	1	0	MPP1	153672517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.351000	0.79395	2.343000	0.79666	0.594000	0.82650	GAG		0.418	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		8	137	0	0	0	1	0	8	137				
PRKAR1B	5575	broad.mit.edu	37	7	645871	645871	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:645871C>T	ENST00000406797.1	-	6	682	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E170K|AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E170K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	170					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGTCTCCTTCATTCCCTGTA	0.423																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(508-510)Gaa>Aaa		protein kinase, cAMP-dependent, regulatory, type I, beta							191.0	143.0	159.0					7																	645871		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:645871C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.508G>A	7.37:g.645871C>T	ENSP00000385749:p.Glu170Lys					PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E170K|AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E170K	p.E170K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	6	682	-		Ovarian(82;0.0779)	170					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.508G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347874	0.61183	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568	D;D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	3.32	3.32	0.38043	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.89301	0.6676	L	0.45581	1.43	0.80722	D	1	B	0.22276	0.067	B	0.25140	0.058	D	0.88211	0.2890	10	0.72032	D	0.01	-2.3466	15.0269	0.71677	0.0:1.0:0.0:0.0	.	170	P31321	KAP1_HUMAN	K	170;170;170;170;170;170;115	ENSP00000440449:E170K;ENSP00000444487:E170K;ENSP00000385749:E170K;ENSP00000385349:E170K;ENSP00000353415:E170K;ENSP00000402648:E170K;ENSP00000394633:E115K	ENSP00000353415:E170K	E	-	1	0	PRKAR1B	612397	1.000000	0.71417	0.993000	0.49108	0.384000	0.30261	6.854000	0.75440	1.571000	0.49722	0.555000	0.69702	GAA		0.423	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			6	163	0	0	0	1	0	6	163				
NIPBL	25836	broad.mit.edu	37	5	37027509	37027509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:37027509C>T	ENST00000282516.8	+	32	6356	c.5857C>T	c.(5857-5859)Caa>Taa	p.Q1953*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q1953*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1953					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCAACTGCTTCAAAACGTGAG	0.313																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(5857-5859)Caa>Taa		Nipped-B homolog (Drosophila)							91.0	90.0	91.0					5																	37027509		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37027509C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5857C>T	5.37:g.37027509C>T	ENSP00000282516:p.Gln1953*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q1953*	p.Q1953*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		32	6356	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1953					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.5857C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	49	16.011889	0.99852	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.706	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1953	.	ENSP00000282516:Q1953X	Q	+	1	0	NIPBL	37063266	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	CAA		0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		19	106	0	0	0	1	0	19	106				
OGFOD1	55239	broad.mit.edu	37	16	56485645	56485645	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:56485645G>A	ENST00000566157.1	+	1	244	c.121G>A	c.(121-123)Gag>Aag	p.E41K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E41K|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	41					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GCAGGTGGCTGAGGCCTGGAG	0.612																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(121-123)Gag>Aag		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						35.0	40.0	38.0					16																	56485645		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56485645G>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.121G>A	16.37:g.56485645G>A	ENSP00000457258:p.Glu41Lys					OGFOD1_ENST00000568397.1_Missense_Mutation_p.E41K	p.E41K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			1	244	+			41					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.121G>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	35	5.574746	0.96553	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.8	5.8	0.92144	.	0.106321	0.64402	D	0.000006	T	0.42494	0.1205	L	0.32530	0.975	0.48452	D	0.999656	P	0.46621	0.881	B	0.40940	0.344	T	0.21793	-1.0235	9	0.13470	T	0.59	-27.6845	16.9861	0.86340	0.0:0.0:1.0:0.0	.	41	Q8N543	OGFD1_HUMAN	K	41	.	ENSP00000337196:E41K	E	+	1	0	OGFOD1	55043146	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	6.109000	0.71528	2.758000	0.94735	0.563000	0.77884	GAG		0.612	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		4	73	0	0	0	1	0	4	73				
SMAD4	4089	broad.mit.edu	37	18	48591940	48591940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:48591940C>G	ENST00000342988.3	+	9	1641	c.1103C>G	c.(1102-1104)tCc>tGc	p.S368C	SMAD4_ENST00000398417.2_Missense_Mutation_p.S368C|SMAD4_ENST00000588745.1_Missense_Mutation_p.S272C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	368	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTCAACTCTCCAATGTCCAC	0.403																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1102-1104)tCc>tGc		SMAD family member 4							128.0	106.0	113.0					18																	48591940		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591940C>G	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1103C>G	18.37:g.48591940C>G	ENSP00000341551:p.Ser368Cys					SMAD4_ENST00000398417.2_Missense_Mutation_p.S368C|SMAD4_ENST00000588745.1_Missense_Mutation_p.S272C	p.S368C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1641	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	368			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1103C>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350766	0.82132	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97688	-4.49;-4.49	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.096165	0.64402	D	0.000001	D	0.98890	0.9624	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	10	0.59425	D	0.04	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	368	Q13485	SMAD4_HUMAN	C	368	ENSP00000341551:S368C;ENSP00000381452:S368C	ENSP00000341551:S368C	S	+	2	0	SMAD4	46845938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.235000	0.72332	2.771000	0.95319	0.563000	0.77884	TCC		0.403	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		5	83	0	0	0	1	0	5	83				
ELF1	1997	broad.mit.edu	37	13	41515396	41515396	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:41515396G>A	ENST00000239882.3	-	8	1231	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.S282F	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	306					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTCTATGCTGGAACTTGGATC	0.418																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(916-918)tCc>tTc		E74-like factor 1 (ets domain transcription factor)							105.0	122.0	116.0					13																	41515396		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41515396G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.917C>T	13.37:g.41515396G>A	ENSP00000239882:p.Ser306Phe					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.S282F	p.S306F	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	8	1231	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	306					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.917C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955303	0.53293	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.56444	0.46;0.46	5.47	3.62	0.41486	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.618379	0.17532	N	0.170830	T	0.47619	0.1455	L	0.29908	0.895	0.47341	D	0.999398	P;P	0.43662	0.668;0.814	B;B	0.43728	0.347;0.429	T	0.55515	-0.8129	10	0.66056	D	0.02	.	16.4683	0.84092	0.0:0.2458:0.7542:0.0	.	282;306	E9PDQ9;P32519	.;ELF1_HUMAN	F	282;48;306	ENSP00000405580:S282F;ENSP00000239882:S306F	ENSP00000239882:S306F	S	-	2	0	ELF1	40413396	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.255000	0.58804	1.430000	0.47334	0.655000	0.94253	TCC		0.418	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		9	194	0	0	0	1	0	9	194				
SPTLC2	9517	broad.mit.edu	37	14	78028818	78028818	+	Silent	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:78028818C>G	ENST00000216484.2	-	6	964	c.771G>C	c.(769-771)ctG>ctC	p.L257L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	257					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GTTCATCACTCAGAATCAGGC	0.433																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(769-771)ctG>ctC		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						100.0	84.0	89.0					14																	78028818		2203	4300	6503	SO:0001819	synonymous_variant	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78028818C>G	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.771G>C	14.37:g.78028818C>G							p.L257L	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	6	964	-			257					Q16685	Silent	SNP	ENST00000216484.2	37	c.771G>C	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270283	0.10349	.	.	ENSG00000100596	ENST00000554901	.	.	.	5.73	2.89	0.33648	.	.	.	.	.	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49437	-0.8940	4	.	.	.	-12.241	7.7474	0.28877	0.0:0.6152:0.2506:0.1341	.	.	.	.	Q	194	.	.	E	-	1	0	SPTLC2	77098571	0.997000	0.39634	1.000000	0.80357	0.702000	0.40608	0.578000	0.23773	0.430000	0.26230	-0.259000	0.10710	GAG		0.433	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		7	79	0	0	0	1	0	7	79				
KLHL11	55175	broad.mit.edu	37	17	40010360	40010360	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:40010360C>T	ENST00000319121.3	-	2	1819	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	587										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)				TCAAGGATCTCATCAGACACT	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.(1759-1761)Gag>Aag		kelch-like family member 11							108.0	113.0	111.0					17																	40010360		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010360C>T		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.1759G>A	17.37:g.40010360C>T	ENSP00000314608:p.Glu587Lys						p.E587K	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1819	-		Breast(137;0.00156)	587						Missense_Mutation	SNP	ENST00000319121.3	37	c.1759G>A	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310415	0.60414	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.70986	-0.53	5.41	5.41	0.78517	.	0.053109	0.85682	D	0.000000	T	0.61540	0.2355	L	0.27053	0.805	0.80722	D	1	B	0.27068	0.167	B	0.21360	0.034	T	0.60141	-0.7321	10	0.56958	D	0.05	-0.1064	19.5578	0.95358	0.0:1.0:0.0:0.0	.	587	Q9NVR0	KLH11_HUMAN	K	587;450	ENSP00000314608:E587K	ENSP00000314608:E587K	E	-	1	0	KLHL11	37263886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	2.682000	0.91365	0.585000	0.79938	GAG		0.408	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		8	146	0	0	0	1	0	8	146				
CASKIN2	57513	broad.mit.edu	37	17	73498870	73498870	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:73498870G>A	ENST00000321617.3	-	18	2871	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	CASKIN2_ENST00000433559.2_Missense_Mutation_p.S680L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	762	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTAGAGGGTGAGCCCTGGGG	0.657																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2284-2286)tCa>tTa		CASK interacting protein 2							11.0	13.0	12.0					17																	73498870		1947	4001	5948	SO:0001583	missense	57513					cytoplasm		g.chr17:73498870G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2285C>T	17.37:g.73498870G>A	ENSP00000325355:p.Ser762Leu					CASKIN2_ENST00000433559.2_Missense_Mutation_p.S680L	p.S762L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2871	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		762			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2285C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834338	0.16820	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70399	-0.48;-0.3	4.87	3.89	0.44902	.	0.424173	0.17428	N	0.174575	T	0.49236	0.1545	N	0.08118	0	0.44000	D	0.996707	B	0.06786	0.001	B	0.06405	0.002	T	0.43572	-0.9383	10	0.45353	T	0.12	.	9.7798	0.40640	0.0968:0.0:0.9032:0.0	.	762	Q8WXE0	CSKI2_HUMAN	L	762;680	ENSP00000325355:S762L;ENSP00000406963:S680L	ENSP00000325355:S762L	S	-	2	0	CASKIN2	71010465	0.008000	0.16893	0.006000	0.13384	0.501000	0.33797	0.530000	0.23036	1.253000	0.44018	0.491000	0.48974	TCA		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		4	69	0	0	0	1	0	4	69				
PRIM1	5557	broad.mit.edu	37	12	57135604	57135604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:57135604G>A	ENST00000338193.6	-	8	802	c.766C>T	c.(766-768)Caa>Taa	p.Q256*		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	256					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						AAGCTTTGTTGAAGTTCATCA	0.383																																						ENST00000338193.6																			0				kidney(1)|lung(6)|prostate(1)	8						c.(766-768)Caa>Taa		primase, DNA, polypeptide 1 (49kDa)							228.0	220.0	223.0					12																	57135604		1884	4129	6013	SO:0001587	stop_gained	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57135604G>A	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.766C>T	12.37:g.57135604G>A	ENSP00000350491:p.Gln256*						p.Q256*	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN			8	802	-			256						Nonsense_Mutation	SNP	ENST00000338193.6	37	c.766C>T	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726381	0.89298	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	.	.	.	5.09	5.09	0.68999	.	0.504076	0.21302	N	0.076783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-8.5113	14.4388	0.67301	0.0:0.0:1.0:0.0	.	.	.	.	X	263;256;259	.	ENSP00000350491:Q256X	Q	-	1	0	PRIM1	55421871	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	3.618000	0.54188	2.543000	0.85770	0.650000	0.86243	CAA		0.383	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		5	223	0	0	0	1	0	5	223				
PCDHA3	56145	broad.mit.edu	37	5	140180825	140180825	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:140180825C>G	ENST00000522353.2	+	1	43	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	PCDHA3_ENST00000532566.2_Missense_Mutation_p.L15V|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	15					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGCCTGCTGCTTTCTCT	0.512																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(43-45)Ctg>Gtg									70.0	77.0	75.0					5																	140180825		2203	4300	6503	SO:0001583	missense	56145							g.chr5:140180825C>G	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.43C>G	5.37:g.140180825C>G	ENSP00000429808:p.Leu15Val					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L15V	p.L15V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	43	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.43C>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	19.56	3.849735	0.71603	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.55930	0.55;0.49	4.65	2.78	0.32641	.	0.928923	0.08662	N	0.912261	T	0.68256	0.2981	M	0.65975	2.015	0.19775	N	0.999959	D;P	0.89917	1.0;0.947	D;P	0.78314	0.991;0.878	T	0.50533	-0.8817	10	0.48119	T	0.1	.	8.2104	0.31479	0.0:0.618:0.2996:0.0824	.	15;15	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	15	ENSP00000429808:L15V;ENSP00000434086:L15V	ENSP00000429808:L15V	L	+	1	2	PCDHA3	140161009	0.035000	0.19736	0.189000	0.23252	0.472000	0.32918	0.661000	0.25023	0.460000	0.27045	0.586000	0.80456	CTG		0.512	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		7	115	0	0	0	1	0	7	115				
SCRG1	11341	broad.mit.edu	37	4	174309513	174309513	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:174309513C>T	ENST00000296506.3	-	3	758	c.276G>A	c.(274-276)gtG>gtA	p.V92V		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1	92					nervous system development (GO:0007399)	extracellular space (GO:0005615)				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		TGCAAGGAATCACGAAAGAGA	0.353																																						ENST00000296506.2																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(274-276)gtG>gtA		stimulator of chondrogenesis 1							112.0	110.0	111.0					4																	174309513		2203	4300	6503	SO:0001819	synonymous_variant	11341				nervous system development	extracellular space		g.chr4:174309513C>T	AJ224677	CCDS3818.1	4q34.1	2009-07-09				ENSG00000164106			17036	protein-coding gene	gene with protein product	"""scrapie responsive gene 1"""	603163				9660755, 9516475	Standard	NM_007281		Approved	SCRG-1	uc003ite.3	O75711		ENST00000296506.3:c.276G>A	4.37:g.174309513C>T							p.V92V	NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)	3	758	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	92						Silent	SNP	ENST00000296506.3	37	c.276G>A	CCDS3818.1																																																																																				0.353	SCRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364304.2	NM_007281		7	107	0	0	0	1	0	7	107				
TMEM95	339168	broad.mit.edu	37	17	7259784	7259784	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:7259784G>A	ENST00000576060.1	+	6	510	c.483G>A	c.(481-483)ctG>ctA	p.L161L	TMEM95_ENST00000330767.4_Silent_p.L169L|TMEM95_ENST00000389982.4_Missense_Mutation_p.E159K|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	161						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				TGGGTGTTCTGAGCCTCCTGG	0.577											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(475-477)Gag>Aag		transmembrane protein 95							236.0	236.0	236.0					17																	7259784		2203	4300	6503	SO:0001819	synonymous_variant	339168					integral to membrane		g.chr17:7259784G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.483G>A	17.37:g.7259784G>A			OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	TMEM95_ENST00000576060.1_Silent_p.L161L|TMEM95_ENST00000330767.4_Silent_p.L169L	p.E159K			Q3KNT9	TMM95_HUMAN			6	557	+		Prostate(122;0.173)	0					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.475G>A		.	.	.	.	.	.	.	.	.	.	G	17.73	3.462595	0.63513	.	.	ENSG00000182896	ENST00000389982	.	.	.	5.34	1.73	0.24493	.	.	.	.	.	T	0.45115	0.1326	.	.	.	0.09310	N	0.999997	P	0.46064	0.872	P	0.45856	0.495	T	0.41197	-0.9522	7	0.87932	D	0	.	13.9062	0.63836	0.0:0.4573:0.5427:0.0	.	159	Q3KNT9-3	.	K	159	.	ENSP00000374632:E159K	E	+	1	0	TMEM95	7200508	0.830000	0.29337	0.614000	0.29051	0.900000	0.52787	0.628000	0.24522	0.553000	0.29044	0.561000	0.74099	GAG		0.577	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		6	303	0	0	0	1	0	6	303				
IFNGR2	3460	broad.mit.edu	37	21	34799243	34799243	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr21:34799243C>T	ENST00000290219.6	+	4	1113	c.465C>T	c.(463-465)ctC>ctT	p.L155L	IFNGR2_ENST00000381995.1_Silent_p.L174L|IFNGR2_ENST00000405436.1_Silent_p.L76L	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	155	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AAGGCTCCCTCATCATCAGGT	0.443																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(463-465)ctC>ctT		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						228.0	223.0	224.0					21																	34799243		2203	4300	6503	SO:0001819	synonymous_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799243C>T		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.465C>T	21.37:g.34799243C>T						IFNGR2_ENST00000381995.1_Silent_p.L174L|IFNGR2_ENST00000405436.1_Silent_p.L76L	p.L155L	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1113	+			155			Fibronectin type-III 2.		Q9BTL5	Silent	SNP	ENST00000290219.6	37	c.465C>T	CCDS33544.1																																																																																				0.443	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			15	268	0	0	0	1	0	15	268				
SMARCE1	6605	broad.mit.edu	37	17	38788614	38788614	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:38788614C>G	ENST00000348513.6	-	8	1327	c.547G>C	c.(547-549)Gat>Cat	p.D183H	SMARCE1_ENST00000377808.4_Missense_Mutation_p.D148H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D113H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D148H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.D165H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.D113H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D113H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	183					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				AAGCCATCATCATAATCTGGA	0.438																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(547-549)Gat>Cat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							58.0	58.0	58.0					17																	38788614		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38788614C>G	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.547G>C	17.37:g.38788614C>G	ENSP00000323967:p.Asp183His					SMARCE1_ENST00000431889.2_Missense_Mutation_p.D165H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D113H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D148H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.D148H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.D113H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D113H|KRT222_ENST00000476049.1_3'UTR	p.D183H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			8	1327	-		Breast(137;0.000812)	183					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.547G>C	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.109402|5.109402	0.94292|0.94292	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808|ENST00000400122	T;T;T|.	0.24350|.	1.86;1.86;2.28|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77671|0.77671	0.4165|0.4165	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.998;0.998|.	P;P;P|.	0.62885|.	0.707;0.887;0.908|.	T|T	0.76236|0.76236	-0.3033|-0.3033	10|5	0.52906|.	T|.	0.07|.	.|.	19.8372|19.8372	0.96661|0.96661	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	148;148;183|.	C0IMW5;C0IMW4;Q969G3|.	.;.;SMCE1_HUMAN|.	H|I	183;113;165;148|8	ENSP00000323967:D183H;ENSP00000445370:D165H;ENSP00000367039:D148H|.	ENSP00000323967:D183H|.	D|M	-|-	1|3	0|0	SMARCE1|SMARCE1	36042140|36042140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.476000|7.476000	0.81055|0.81055	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.438	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		5	63	0	0	0	1	0	5	63				
BRCA1	672	broad.mit.edu	37	17	41249303	41249303	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:41249303G>C	ENST00000357654.3	-	8	669	c.551C>G	c.(550-552)tCt>tGt	p.S184C	BRCA1_ENST00000468300.1_Missense_Mutation_p.S184C|BRCA1_ENST00000471181.2_Missense_Mutation_p.S184C|BRCA1_ENST00000352993.3_Missense_Mutation_p.S184C|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S184C|BRCA1_ENST00000354071.3_Missense_Mutation_p.S184C|BRCA1_ENST00000493795.1_Missense_Mutation_p.S137C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.S184C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_De_novo_Start_OutOfFrame	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	184					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGAATCAGATCCTAAAAA	0.284			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120							Homologous recombination	breast cancer 1, early onset							54.0	60.0	58.0					17																	41249303		2203	4298	6501	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41249303G>C	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.551C>G	17.37:g.41249303G>C	ENSP00000350283:p.Ser184Cys	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000354071.3_Missense_Mutation_p.S184C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.S184C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S184C|BRCA1_ENST00000346315.3_Missense_Mutation_p.S184C|BRCA1_ENST00000491747.2_Missense_Mutation_p.S184C|BRCA1_ENST00000468300.1_Missense_Mutation_p.S184C|BRCA1_ENST00000471181.2_Missense_Mutation_p.S184C|BRCA1_ENST00000493795.1_Missense_Mutation_p.S137C		NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	0	690	-		Breast(137;0.000717)						O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Translation_Start_Site	SNP	ENST00000357654.3	37		CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001044	0.74818	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000493919;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98264	-2.84;-2.92;-2.71;-2.9;-2.68;-3.25;-2.85;-2.95;-2.51;-2.82;-3.34;-4.83;-3.02;-2.48	4.96	4.96	0.65561	.	0.000000	0.56097	D	0.000033	D	0.98654	0.9549	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;P;D	0.91635	0.995;0.987;0.998;0.998;0.994;0.997;0.998;0.846;0.999	D	0.99441	1.0938	10	0.87932	D	0	.	16.528	0.84336	0.0:0.0:1.0:0.0	.	137;183;184;184;184;184;184;184;184	B4DES0;E7ETR2;E7EMP0;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;.;BRCA1_HUMAN;.	C	184;184;184;184;184;184;137;184;137;183;183;137;184;158;184;183	ENSP00000350283:S184C;ENSP00000326002:S184C;ENSP00000312236:S184C;ENSP00000246907:S184C;ENSP00000417148:S184C;ENSP00000377294:S137C;ENSP00000418960:S184C;ENSP00000418775:S137C;ENSP00000420412:S183C;ENSP00000418819:S137C;ENSP00000419274:S184C;ENSP00000419988:S158C;ENSP00000419103:S184C;ENSP00000417554:S183C	ENSP00000246907:S184C	S	-	2	0	BRCA1	38502829	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.993000	0.56987	2.750000	0.94351	0.561000	0.74099	TCT		0.284	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		7	143	0	0	0	1	0	7	143				
DLEC1	9940	broad.mit.edu	37	3	38138180	38138180	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:38138180C>T	ENST00000308059.6	+	15	2313	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	DLEC1_ENST00000346219.3_Silent_p.I764I|DLEC1_ENST00000452631.2_Silent_p.I764I					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATGCCCTCATCATCCCAGGGG	0.498																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2290-2292)atC>atT		deleted in lung and esophageal cancer 1							150.0	146.0	147.0					3																	38138180		1961	4163	6124	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38138180C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2292C>T	3.37:g.38138180C>T						DLEC1_ENST00000452631.2_Silent_p.I764I|DLEC1_ENST00000346219.3_Silent_p.I764I	p.I764I			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	15	2313	+			764						Silent	SNP	ENST00000308059.6	37	c.2292C>T	CCDS2672.2																																																																																				0.498	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		13	191	0	0	0	1	0	13	191				
DNAH10	196385	broad.mit.edu	37	12	124257476	124257476	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:124257476C>T	ENST00000409039.3	+	4	334	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	103	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)		TGTTTTTCCTCAGAAATACCA	0.463																																						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.(307-309)ctC>ctT		dynein, axonemal, heavy chain 10							137.0	135.0	136.0					12																	124257476		1957	4166	6123	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124257476C>T	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.309C>T	12.37:g.124257476C>T							p.L103L	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)	4	334	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		103			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.309C>T	CCDS9255.2																																																																																				0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	87	0	0	0	1	0	7	87				
GMPS	8833	broad.mit.edu	37	3	155615828	155615828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:155615828C>T	ENST00000496455.2	+	3	657	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	108	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CTATGGTATGCAGGTATGTCA	0.363			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(322-324)Cag>Tag		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						239.0	223.0	228.0					3																	155615828		1855	4099	5954	SO:0001587	stop_gained	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155615828C>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.322C>T	3.37:g.155615828C>T	ENSP00000419851:p.Gln108*					GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR	p.Q108*	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		3	657	+			108			Glutamine amidotransferase type-1.		A8K639|B4DXV7|F8W720	Nonsense_Mutation	SNP	ENST00000496455.2	37	c.322C>T	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	C	40	8.457306	0.98820	.	.	ENSG00000163655	ENST00000496455;ENST00000537975;ENST00000541628	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.4054	19.2402	0.93879	0.0:1.0:0.0:0.0	.	.	.	.	X	108;57;108	.	ENSP00000419851:Q108X	Q	+	1	0	GMPS	157098522	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.300000	0.78841	2.533000	0.85409	0.655000	0.94253	CAG		0.363	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			5	243	0	0	0	1	0	5	243				
GAL3ST3	89792	broad.mit.edu	37	11	65810634	65810634	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:65810634C>G	ENST00000312006.4	-	3	921	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E214Q	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	214					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)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGGCTGCGCTCATTGTCGCCG	0.672																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(640-642)Gag>Cag		galactose-3-O-sulfotransferase 3							36.0	40.0	39.0					11																	65810634		2199	4292	6491	SO:0001583	missense	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.chr11:65810634C>G	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.640G>C	11.37:g.65810634C>G	ENSP00000308591:p.Glu214Gln					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E214Q	p.E214Q	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	921	-			214					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.640G>C	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061226	0.55432	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.15834	2.39;2.39	4.51	4.51	0.55191	.	0.090432	0.51477	D	0.000082	T	0.18841	0.0452	L	0.35723	1.085	0.42578	D	0.9932	P	0.41748	0.761	P	0.45449	0.481	T	0.03384	-1.1042	10	0.24483	T	0.36	-14.5974	15.1033	0.72299	0.0:1.0:0.0:0.0	.	214	Q96A11	G3ST3_HUMAN	Q	214	ENSP00000308591:E214Q;ENSP00000434829:E214Q	ENSP00000308591:E214Q	E	-	1	0	GAL3ST3	65567210	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.177000	0.42509	2.215000	0.71742	0.561000	0.74099	GAG		0.672	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		4	94	0	0	0	1	0	4	94				
ADCY9	115	broad.mit.edu	37	16	4164326	4164326	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:4164326G>C	ENST00000294016.3	-	2	1656	c.1118C>G	c.(1117-1119)tCt>tGt	p.S373C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	373					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGATGGAAGACTTTTTCTT	0.453																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1117-1119)tCt>tGt		adenylate cyclase 9							141.0	136.0	138.0					16																	4164326		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164326G>C	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1118C>G	16.37:g.4164326G>C	ENSP00000294016:p.Ser373Cys						p.S373C	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1656	-			373					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1118C>G	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992588	0.35131	.	.	ENSG00000162104	ENST00000294016	D	0.84223	-1.82	5.48	2.42	0.29668	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.364252	0.30464	N	0.009576	T	0.78953	0.4365	L	0.29908	0.895	0.33520	D	0.592229	P	0.50710	0.938	P	0.45913	0.497	T	0.81972	-0.0688	10	0.56958	D	0.05	.	10.8886	0.46981	0.207:0.0:0.793:0.0	.	373	O60503	ADCY9_HUMAN	C	373	ENSP00000294016:S373C	ENSP00000294016:S373C	S	-	2	0	ADCY9	4104327	1.000000	0.71417	0.907000	0.35723	0.977000	0.68977	4.010000	0.57117	0.288000	0.22398	0.555000	0.69702	TCT		0.453	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			5	122	0	0	0	1	0	5	122				
SCN1A	6323	broad.mit.edu	37	2	166859020	166859020	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:166859020C>T	ENST00000303395.4	-	21	4245	c.4246G>A	c.(4246-4248)Gat>Aat	p.D1416N	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1405N|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1388N|SCN1A_ENST00000423058.2_Missense_Mutation_p.D1416N			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1416					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTACATTATCAAAGTTTACT	0.308																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4246-4248)Gat>Aat		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						76.0	78.0	77.0					2																	166859020		2202	4299	6501	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166859020C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4246G>A	2.37:g.166859020C>T	ENSP00000303540:p.Asp1416Asn					SCN1A_ENST00000375405.3_Missense_Mutation_p.D1405N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1416N|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1388N|AC010127.3_ENST00000597623.1_RNA	p.D1416N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			21	4263	-			1416					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4246G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607096	0.87157	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.993	P;D;D	0.91635	0.801;0.999;0.951	D	0.99568	1.0970	10	0.87932	D	0	.	19.4941	0.95064	0.0:1.0:0.0:0.0	.	1405;1388;1416	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	1416;1416;1405;1388	ENSP00000407030:D1416N;ENSP00000303540:D1416N;ENSP00000364554:D1405N;ENSP00000386312:D1388N	ENSP00000303540:D1416N	D	-	1	0	SCN1A	166567266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.682000	0.91365	0.591000	0.81541	GAT		0.308	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		4	62	0	0	0	1	0	4	62				
MAEA	10296	broad.mit.edu	37	4	1316234	1316234	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:1316234G>C	ENST00000303400.4	+	4	585	c.522G>C	c.(520-522)gaG>gaC	p.E174D	MAEA_ENST00000505177.2_Missense_Mutation_p.E174D|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Missense_Mutation_p.E95D|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.E126D|MAEA_ENST00000510794.1_Missense_Mutation_p.E173D	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	174	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AGAGGCGTGAGACGGCCACCT	0.597																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(520-522)gaG>gaC		macrophage erythroblast attacher							82.0	83.0	83.0					4																	1316234		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1316234G>C	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.522G>C	4.37:g.1316234G>C	ENSP00000302830:p.Glu174Asp					MAEA_ENST00000452175.2_Missense_Mutation_p.E95D|MAEA_ENST00000505177.2_Missense_Mutation_p.E174D|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.E173D|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.E126D	p.E174D	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		4	585	+			174			CTLH.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.522G>C	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996174	0.35226	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.44881	1.1;1.0;0.91;0.94;1.0;1.1	5.94	3.32	0.38043	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	L	0.27944	0.81	0.53005	D	0.999966	B;B;B	0.30973	0.302;0.059;0.004	B;B;B	0.39660	0.21;0.306;0.042	T	0.08351	-1.0726	10	0.02654	T	1	-26.9369	9.0834	0.36565	0.3371:0.0:0.6629:0.0	.	173;174;174	B4DVN3;E7ESC7;Q7L5Y9	.;.;MAEA_HUMAN	D	174;174;174;153;106;95;173;126	ENSP00000302830:E174D;ENSP00000422215:E174D;ENSP00000421644:E174D;ENSP00000426903:E106D;ENSP00000411415:E95D;ENSP00000426807:E173D	ENSP00000302830:E174D	E	+	3	2	MAEA	1306234	1.000000	0.71417	0.973000	0.42090	0.955000	0.61496	2.288000	0.43514	0.428000	0.26173	-0.150000	0.13652	GAG		0.597	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		4	95	0	0	0	1	0	4	95				
PLK4	10733	broad.mit.edu	37	4	128806873	128806873	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:128806873C>T	ENST00000270861.5	+	5	622	c.348C>T	c.(346-348)ttC>ttT	p.F116F	PLK4_ENST00000513090.1_Silent_p.F84F|PLK4_ENST00000514379.1_Silent_p.F75F|PLK4_ENST00000515069.1_Silent_p.F116F|PLK4_ENST00000507249.1_Silent_p.F116F	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTCGACACTTCATGCACCAGA	0.368																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(346-348)ttC>ttT		polo-like kinase 4							167.0	158.0	161.0					4																	128806873		2203	4300	6503	SO:0001819	synonymous_variant	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128806873C>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.348C>T	4.37:g.128806873C>T						PLK4_ENST00000514379.1_Silent_p.F75F|PLK4_ENST00000515069.1_Silent_p.F116F|PLK4_ENST00000513090.1_Silent_p.F84F|PLK4_ENST00000507249.1_Silent_p.F116F	p.F116F	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			5	622	+			116			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.348C>T	CCDS3735.1																																																																																				0.368	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			13	173	0	0	0	1	0	13	173				
CNTN2	6900	broad.mit.edu	37	1	205027780	205027780	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:205027780C>T	ENST00000331830.4	+	5	760	c.476C>T	c.(475-477)gCc>gTc	p.A159V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	159	Ig-like C2-type 2.				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)			AACCCACCTGCCCACTACCCA	0.577																																					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.(475-477)gCc>gTc		contactin 2 (axonal)							35.0	36.0	35.0					1																	205027780		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.chr1:205027780C>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.476C>T	1.37:g.205027780C>T	ENSP00000330633:p.Ala159Val						p.A159V	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)		5	760	+	all_cancers(21;0.144)|Breast(84;0.0437)		159			Ig-like C2-type 2.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.476C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509254	0.64522	.	.	ENSG00000184144	ENST00000331830	T	0.02944	4.1	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122292	0.36628	N	0.002491	T	0.02380	0.0073	L	0.35249	1.045	0.33259	D	0.559456	P;P;P	0.46220	0.874;0.874;0.769	B;B;B	0.31191	0.125;0.125;0.125	T	0.46857	-0.9161	10	0.46703	T	0.11	.	12.5527	0.56236	0.1666:0.8334:0.0:0.0	.	159;159;50	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	V	159	ENSP00000330633:A159V	ENSP00000330633:A159V	A	+	2	0	CNTN2	203294403	0.990000	0.36364	1.000000	0.80357	0.991000	0.79684	4.261000	0.58841	2.223000	0.72356	0.555000	0.69702	GCC		0.577	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		3	24	0	0	0	1	0	3	24				
ARHGAP12	94134	broad.mit.edu	37	10	32128591	32128591	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:32128591G>A	ENST00000344936.2	-	8	1579	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	ARHGAP12_ENST00000375250.5_Intron|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.P449S|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.P402S|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.P402S	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	449					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTGAGGAGGGAGAAGACTCA	0.308																																						ENST00000311380.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(1204-1206)Ccc>Tcc		Rho GTPase activating protein 12							108.0	111.0	110.0					10																	32128591		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32128591G>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1345C>T	10.37:g.32128591G>A	ENSP00000345808:p.Pro449Ser					ARHGAP12_ENST00000375250.5_Intron|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.P402S|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.P449S|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.P449S	p.P402S	NM_001270697.1|NM_001270699.1	NP_001257626.1|NP_001257628.1	Q8IWW6	RHG12_HUMAN			5	1222	-		Prostate(175;0.0199)	449					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1204C>T	CCDS7170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.05|12.05	1.822785|1.822785	0.32237|0.32237	.|.	.|.	ENSG00000165322|ENSG00000165322	ENST00000311380;ENST00000344936;ENST00000396144;ENST00000375245|ENST00000454919	T;T;T;T|T	0.36340|0.42131	1.26;1.26;1.26;1.26|0.98	5.51|5.51	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32406|0.32406	0.0828|0.0828	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999987|0.999987	B;B;B|.	0.22851|.	0.022;0.045;0.076|.	B;B;B|.	0.18263|.	0.012;0.017;0.021|.	T|T	0.03259|0.03259	-1.1055|-1.1055	10|7	0.39692|0.10377	T|T	0.17|0.69	.|.	14.0937|14.0937	0.65006|0.65006	0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0	.|.	449;449;402|.	Q504X1;Q8IWW6;Q8IWW6-3|.	.;RHG12_HUMAN;.|.	S|F	402;449;449;402|124	ENSP00000310984:P402S;ENSP00000345808:P449S;ENSP00000379448:P449S;ENSP00000364394:P402S|ENSP00000398050:S124F	ENSP00000310984:P402S|ENSP00000398050:S124F	P|S	-|-	1|2	0|0	ARHGAP12|ARHGAP12	32168597|32168597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.878000|5.878000	0.69682|0.69682	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.308	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			5	52	0	0	0	1	0	5	52				
GPR37	2861	broad.mit.edu	37	7	124387288	124387288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:124387288G>A	ENST00000303921.2	-	2	1783	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	378					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGCAGTTGTTGAGGAACAGTT	0.483																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1132-1134)tCa>tTa		G protein-coupled receptor 37 (endothelin receptor type B-like)							83.0	82.0	82.0					7																	124387288		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387288G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1133C>T	7.37:g.124387288G>A	ENSP00000306449:p.Ser378Leu						p.S378L	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	1783	-			378					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1133C>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485566	0.63962	.	.	ENSG00000170775	ENST00000303921	T	0.34859	1.34	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.52306	0.1726	L	0.41415	1.275	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.35992	-0.9766	10	0.33940	T	0.23	-21.2381	18.9218	0.92528	0.0:0.0:1.0:0.0	.	378	O15354	GPR37_HUMAN	L	378	ENSP00000306449:S378L	ENSP00000306449:S378L	S	-	2	0	GPR37	124174524	1.000000	0.71417	0.413000	0.26509	0.578000	0.36192	9.869000	0.99810	2.717000	0.92951	0.563000	0.77884	TCA		0.483	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		6	77	0	0	0	1	0	6	77				
ENPP3	5169	broad.mit.edu	37	6	132068003	132068003	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:132068003C>T	ENST00000414305.1	+	26	2863	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.L845L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	845	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TAGAACTTCTCACTGGGCTTG	0.388																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2533-2535)ctC>ctT		ectonucleotide pyrophosphatase/phosphodiesterase 3							81.0	83.0	83.0					6																	132068003		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132068003C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2535C>T	6.37:g.132068003C>T						ENPP3_ENST00000357639.3_Silent_p.L845L|ENPP3_ENST00000358229.5_3'UTR	p.L845L			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	26	2863	+	Breast(56;0.0753)		845			Nuclease.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.2535C>T	CCDS5148.1																																																																																				0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			10	164	0	0	0	1	0	10	164				
TRRAP	8295	broad.mit.edu	37	7	98522761	98522761	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:98522761G>A	ENST00000359863.4	+	22	3059	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	TRRAP_ENST00000355540.3_Silent_p.L950L|TRRAP_ENST00000446306.3_Silent_p.L949L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	950					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGACTGCCTGAAAAGCGCCA	0.488																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2848-2850)ctG>ctA		transformation/transcription domain-associated protein							135.0	113.0	121.0					7																	98522761		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98522761G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2850G>A	7.37:g.98522761G>A						TRRAP_ENST00000446306.3_Silent_p.L949L|TRRAP_ENST00000355540.3_Silent_p.L950L	p.L950L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3059	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		950					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2850G>A	CCDS59066.1																																																																																				0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	51	0	0	0	1	0	7	51				
DCLK1	9201	broad.mit.edu	37	13	36700207	36700207	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:36700207C>T	ENST00000360631.3	-	2	279	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q|DCLK1_ENST00000255448.4_Missense_Mutation_p.R23Q			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	23					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCGCGACCCTCGGCTGTATCT	0.637																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(67-69)cGa>cAa		doublecortin-like kinase 1							61.0	62.0	62.0					13																	36700207		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700207C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.68G>A	13.37:g.36700207C>T	ENSP00000353846:p.Arg23Gln					DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R23Q	p.R23Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	279	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	23					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.68G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.120991	0.77436	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.70399	-0.48;-0.48;1.54	5.67	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.46157	1.445	0.37204	D	0.904529	B	0.20988	0.05	B	0.19666	0.026	T	0.68432	-0.5410	10	0.62326	D	0.03	.	16.6949	0.85333	0.0:0.8704:0.1296:0.0	.	23	O15075-2	.	Q	23	ENSP00000255448:R23Q;ENSP00000353846:R23Q;ENSP00000369222:R23Q	ENSP00000255448:R23Q	R	-	2	0	DCLK1	35598207	0.144000	0.22641	0.890000	0.34922	0.978000	0.69477	3.630000	0.54273	1.387000	0.46486	0.655000	0.94253	CGA		0.637	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		10	133	0	0	0	1	0	10	133				
CKAP4	10970	broad.mit.edu	37	12	106633715	106633715	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:106633715G>A	ENST00000378026.4	-	2	1032	c.896C>T	c.(895-897)tCa>tTa	p.S299L	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	299						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GGACTTGGCTGAGGTCTGTAT	0.517																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(895-897)tCa>tTa		cytoskeleton-associated protein 4							133.0	135.0	134.0					12																	106633715		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633715G>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.896C>T	12.37:g.106633715G>A	ENSP00000367265:p.Ser299Leu					CKAP4_ENST00000552828.1_5'UTR	p.S299L	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1032	-			299					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.896C>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885859	0.72410	.	.	ENSG00000136026	ENST00000378026	T	0.78003	-1.14	5.8	4.91	0.64330	.	0.240241	0.42964	D	0.000635	D	0.86447	0.5935	M	0.76328	2.33	0.53688	D	0.999974	D	0.76494	0.999	D	0.67382	0.951	D	0.86844	0.2019	10	0.46703	T	0.11	-2.3464	14.6126	0.68526	0.0695:0.0:0.9305:0.0	.	299	Q07065	CKAP4_HUMAN	L	299	ENSP00000367265:S299L	ENSP00000367265:S299L	S	-	2	0	CKAP4	105157845	1.000000	0.71417	0.033000	0.17914	0.654000	0.38779	7.965000	0.87945	1.463000	0.47967	0.563000	0.77884	TCA		0.517	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			5	161	0	0	0	1	0	5	161				
VCAM1	7412	broad.mit.edu	37	1	101190204	101190204	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:101190204C>T	ENST00000294728.2	+	4	787	c.686C>T	c.(685-687)tCt>tTt	p.S229F	VCAM1_ENST00000370115.1_Missense_Mutation_p.S229F|VCAM1_ENST00000347652.2_Missense_Mutation_p.S229F|VCAM1_ENST00000370119.4_Missense_Mutation_p.S167F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	229	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACAGTTATTTCTGTGAATCCA	0.413																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(685-687)tCt>tTt		vascular cell adhesion molecule 1	Carvedilol(DB01136)						100.0	93.0	96.0					1																	101190204		2203	4299	6502	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101190204C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.686C>T	1.37:g.101190204C>T	ENSP00000294728:p.Ser229Phe					VCAM1_ENST00000347652.2_Missense_Mutation_p.S229F|VCAM1_ENST00000370115.1_Missense_Mutation_p.S229F|VCAM1_ENST00000370119.4_Missense_Mutation_p.S167F	p.S229F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	4	787	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	229			Ig-like C2-type 3.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.686C>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	c	11.58	1.680603	0.29872	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.68	2.46	0.29980	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.171220	0.05847	N	0.620550	T	0.09202	0.0227	M	0.86740	2.835	0.09310	N	1	B;B;B	0.23990	0.045;0.095;0.014	B;B;B	0.24848	0.049;0.056;0.013	T	0.41610	-0.9499	10	0.59425	D	0.04	-0.1154	4.9467	0.13993	0.1633:0.6476:0.0:0.1891	.	167;229;229	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	F	167;229;229;229	ENSP00000359137:S167F;ENSP00000304611:S229F;ENSP00000294728:S229F;ENSP00000359133:S229F	ENSP00000294728:S229F	S	+	2	0	VCAM1	100962792	0.001000	0.12720	0.041000	0.18516	0.868000	0.49771	0.297000	0.19101	0.222000	0.20900	0.651000	0.88453	TCT		0.413	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		10	143	0	0	0	1	0	10	143				
BCL2L12	83596	broad.mit.edu	37	19	50169080	50169080	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:50169080G>A	ENST00000246785.3	+	0	258				IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000246784.3_5'Flank|BCL2L12_ENST00000441864.2_De_novo_Start_InFrame|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000599144.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)						inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCCAAAAGCCGATGGGACGGC	0.532																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8								BCL2-like 12 (proline rich)							45.0	53.0	50.0					19																	50169080		2202	4298	6500			83596				apoptosis			g.chr19:50169080G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09			19.37:g.50169080G>A						BCL2L12_ENST00000441864.2_De_novo_Start_InFrame|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000246784.3_Intron|IRF3_ENST00000377139.3_5'UTR		NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	0	258	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)						Q3SY11|Q3SY13|Q96I96|Q9HB08	Translation_Start_Site	SNP	ENST00000246785.3	37		CCDS12776.1																																																																																				0.532	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		4	83	0	0	0	1	0	4	83				
POLR2J	5439	broad.mit.edu	37	7	102119287	102119287	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:102119287G>C	ENST00000292614.5	-	1	67	c.21C>G	c.(19-21)ttC>ttG	p.F7L	POLR2J_ENST00000393794.3_Missense_Mutation_p.F7L|AC093668.3_ENST00000607525.1_RNA	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	7					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|LRR domain binding (GO:0030275)			pancreas(2)	2						AGAACGACTCGAAGGCTGGAG	0.677											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292614.5																			0				pancreas(2)	2						c.(19-21)ttC>ttG		polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa							18.0	22.0	21.0					7																	102119287		1908	3854	5762	SO:0001583	missense	5439				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity	g.chr7:102119287G>C	X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"""RNA polymerase subunits"""	9197	protein-coding gene	gene with protein product		604150	"""polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"""				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.21C>G	7.37:g.102119287G>C	ENSP00000292614:p.Phe7Leu		OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1364	POLR2J_ENST00000393794.3_Missense_Mutation_p.F7L	p.F7L	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN			1	67	-			7					A5D6V8|O43375	Missense_Mutation	SNP	ENST00000292614.5	37	c.21C>G	CCDS5724.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722884	0.48728	.	.	ENSG00000005075	ENST00000292614;ENST00000393794	D;D	0.92249	-3.0;-3.0	5.59	1.79	0.24919	DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.92437	0.7599	M	0.89968	3.075	0.54753	D	0.999987	D	0.56035	0.974	B	0.43251	0.413	D	0.90030	0.4134	10	0.72032	D	0.01	-26.7283	10.3325	0.43831	0.3603:0.0:0.6397:0.0	.	7	P52435	RPB11_HUMAN	L	7	ENSP00000292614:F7L;ENSP00000377383:F7L	ENSP00000292614:F7L	F	-	3	2	POLR2J	101906292	1.000000	0.71417	0.995000	0.50966	0.470000	0.32858	2.817000	0.48034	-0.131000	0.11578	-1.164000	0.01763	TTC		0.677	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317913.1	NM_006234		3	44	0	0	0	1	0	3	44				
AAR2	25980	broad.mit.edu	37	20	34843614	34843614	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:34843614G>C	ENST00000373932.3	+	4	1448	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	AAR2_ENST00000320849.4_Missense_Mutation_p.E368Q|AAR2_ENST00000397286.3_Intron	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	368																	TGCGGAACCTGAGGACTGTGC	0.617																																						ENST00000373932.3																			0											c.(1102-1104)Gag>Cag		AAR2 splicing factor homolog (S. cerevisiae)							80.0	84.0	83.0					20																	34843614		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34843614G>C		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1102G>C	20.37:g.34843614G>C	ENSP00000363043:p.Glu368Gln					AAR2_ENST00000320849.4_Missense_Mutation_p.E368Q|AAR2_ENST00000397286.3_Intron	p.E368Q	NM_015511.3	NP_056326.2					4	1448	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.1102G>C	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389545	0.82902	.	.	ENSG00000131043	ENST00000320849;ENST00000373932	T;T	0.50001	0.76;0.76	6.17	6.17	0.99709	.	.	.	.	.	T	0.42585	0.1209	L	0.46157	1.445	0.50632	D	0.999884	P	0.35745	0.518	B	0.26770	0.073	T	0.27331	-1.0077	9	0.40728	T	0.16	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	368	Q9Y312	CT004_HUMAN	Q	368	ENSP00000313674:E368Q;ENSP00000363043:E368Q	ENSP00000313674:E368Q	E	+	1	0	C20orf4	34307028	1.000000	0.71417	0.979000	0.43373	0.823000	0.46562	9.448000	0.97600	2.941000	0.99782	0.655000	0.94253	GAG		0.617	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		4	81	0	0	0	1	0	4	81				
NUDCD3	23386	broad.mit.edu	37	7	44524878	44524878	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:44524878G>A	ENST00000355451.7	-	2	477	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	66										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CAAAGGTTTTGAATACCTAAA	0.418																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(196-198)ttC>ttT		NudC domain containing 3							53.0	55.0	54.0					7																	44524878		2155	4270	6425	SO:0001819	synonymous_variant	23386							g.chr7:44524878G>A	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.198C>T	7.37:g.44524878G>A							p.F66F	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			2	477	-			66					Q9BTI3|Q9H7W9|Q9UPT4	Silent	SNP	ENST00000355451.7	37	c.198C>T	CCDS5490.2																																																																																				0.418	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		7	78	0	0	0	1	0	7	78				
RMI1	80010	broad.mit.edu	37	9	86617353	86617353	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:86617353G>A	ENST00000325875.3	+	3	1784	c.1452G>A	c.(1450-1452)atG>atA	p.M484I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	484					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTATTGCCATGGATTTGTATT	0.318																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1450-1452)atG>atA		RecQ mediated genome instability 1							87.0	92.0	90.0					9																	86617353		2203	4299	6502	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617353G>A	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1452G>A	9.37:g.86617353G>A	ENSP00000317039:p.Met484Ile						p.M484I	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1784	+			484					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1452G>A	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	3.466	-0.109045	0.06924	.	.	ENSG00000178966	ENST00000325875	T	0.28895	1.59	5.29	2.3	0.28687	.	0.409870	0.24985	N	0.034033	T	0.23370	0.0565	L	0.57536	1.79	0.32410	N	0.55076	B	0.02656	0.0	B	0.01281	0.0	T	0.11743	-1.0575	9	.	.	.	-13.937	3.7789	0.08673	0.1893:0.0:0.515:0.2956	.	484	Q9H9A7	RMI1_HUMAN	I	484	ENSP00000317039:M484I	.	M	+	3	0	RMI1	85807173	0.997000	0.39634	0.996000	0.52242	0.864000	0.49448	1.111000	0.31159	1.354000	0.45846	0.563000	0.77884	ATG		0.318	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		5	150	0	0	0	1	0	5	150				
TTN	7273	broad.mit.edu	37	2	179475984	179475984	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179475984C>G	ENST00000591111.1	-	220	46173	c.45949G>C	c.(45949-45951)Gac>Cac	p.D15317H	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8085H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D16958H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8018H|TTN_ENST00000460472.2_Missense_Mutation_p.D7893H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14390H|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15317	Ig-like 97.				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)			GTCTCCAGGTCAATTGTTGGC	0.353																																						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.(50872-50874)Gac>Cac		titin							43.0	43.0	43.0					2																	179475984		1884	4109	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179475984C>G	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.45949G>C	2.37:g.179475984C>G	ENSP00000465570:p.Asp15317His					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15317H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7893H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8085H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8018H|TTN_ENST00000342992.6_Missense_Mutation_p.D14390H	p.D16958H	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)		270	51096	-			15317			Fibronectin type-III 23.		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.50872G>C		.	.	.	.	.	.	.	.	.	.	C	12.93	2.086375	0.36855	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64853	0.2636	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	P;P;P;P	0.58266	0.836;0.836;0.836;0.836	T	0.67146	-0.5744	9	0.87932	D	0	.	20.1859	0.98214	0.0:1.0:0.0:0.0	.	7893;8018;8085;15317	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	14390;7893;8085;8018;7893	ENSP00000343764:D14390H;ENSP00000434586:D7893H;ENSP00000340554:D8085H;ENSP00000352154:D8018H	ENSP00000340554:D8085H	D	-	1	0	TTN	179184229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.777000	0.95525	0.591000	0.81541	GAC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	36	0	0	0	1	0	5	36				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	100	0	0	0	1	0	9	100				
TTN	7273	broad.mit.edu	37	2	179401824	179401824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179401824C>T	ENST00000591111.1	-	306	95313	c.95089G>A	c.(95089-95091)Gaa>Aaa	p.E31697K	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24465K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33338K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24398K|TTN_ENST00000460472.2_Missense_Mutation_p.E24273K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30770K|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31697	Fibronectin type-III 130. {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)			AATTGCCATTCAGCCCCCTCC	0.507																																						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.(100012-100014)Gaa>Aaa		titin							65.0	65.0	65.0					2																	179401824		1953	4124	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401824C>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.95089G>A	2.37:g.179401824C>T	ENSP00000465570:p.Glu31697Lys					TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31697K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24273K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24465K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24398K|TTN_ENST00000342992.6_Missense_Mutation_p.E30770K|TTN-AS1_ENST00000585487.1_RNA	p.E33338K	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)		356	100236	-			31697			Ig-like 146.		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.100012G>A		.	.	.	.	.	.	.	.	.	.	C	17.31	3.357770	0.61403	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.41	5.41	0.78517	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41050	0.1142	N	0.17474	0.49	0.53688	D	0.999972	B;B;B;B	0.29552	0.248;0.248;0.248;0.248	B;B;B;B	0.25884	0.064;0.064;0.064;0.064	T	0.40776	-0.9545	9	0.87932	D	0	.	19.1973	0.93695	0.0:1.0:0.0:0.0	.	24273;24398;24465;31697	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	30770;24273;24465;24398;24270	ENSP00000343764:E30770K;ENSP00000434586:E24273K;ENSP00000340554:E24465K;ENSP00000352154:E24398K	ENSP00000340554:E24465K	E	-	1	0	TTN	179110070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.674000	0.46867	2.544000	0.85801	0.462000	0.41574	GAA		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	55	0	0	0	1	0	7	55				
ZNF420	147923	broad.mit.edu	37	19	37619055	37619055	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:37619055G>A	ENST00000337995.3	+	5	1377	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.E388K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACCAATGAAAAGCCCTA	0.408																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1162-1164)Gaa>Aaa		zinc finger protein 420							87.0	91.0	90.0					19																	37619055		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619055G>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1162G>A	19.37:g.37619055G>A	ENSP00000338770:p.Glu388Lys					ZNF420_ENST00000304239.7_Missense_Mutation_p.E388K|ZNF585A_ENST00000588723.1_Intron	p.E388K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1377	+			388					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1162G>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635305	0.67130	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.24350	1.86;1.86	4.24	3.2	0.36748	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27866	0.0686	M	0.67517	2.055	0.80722	D	1	P	0.48503	0.911	B	0.43331	0.416	T	0.06058	-1.0848	9	0.66056	D	0.02	.	7.5365	0.27712	0.0967:0.1686:0.7347:0.0	.	388	Q8TAQ5	ZN420_HUMAN	K	388	ENSP00000306102:E388K;ENSP00000338770:E388K	ENSP00000306102:E388K	E	+	1	0	ZNF420	42310895	1.000000	0.71417	0.935000	0.37517	0.992000	0.81027	4.650000	0.61440	0.994000	0.38892	0.655000	0.94253	GAA		0.408	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		7	116	0	0	0	1	0	7	116				
ANKEF1	63926	broad.mit.edu	37	20	10025043	10025043	+	Splice_Site	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:10025043C>T	ENST00000378380.3	+	4	877	c.548C>T	c.(547-549)tCc>tTc	p.S183F	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Splice_Site_p.S183F|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	183							calcium ion binding (GO:0005509)										CATGTCCAGTCCACAGGCCGC	0.413																																						ENST00000378380.3																			0											c.e4-1		ankyrin repeat and EF-hand domain containing 1							144.0	136.0	139.0					20																	10025043		2203	4300	6503	SO:0001630	splice_region_variant	63926							g.chr20:10025043C>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.547-1C>T	20.37:g.10025043C>T						SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Splice_Site_p.S183_splice|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	p.S183_splice	NM_198798.1	NP_942093.1					4	877	+								B3KUQ0|Q9H6Y9	Splice_Site	SNP	ENST00000378380.3	37	c.546_splice	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200146	0.58126	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.68331	-0.32;-0.32	5.24	5.24	0.73138	Ankyrin repeat-containing domain (4);	0.386486	0.30464	N	0.009564	T	0.65091	0.2658	L	0.31845	0.965	0.29966	N	0.818939	P	0.49696	0.927	P	0.55161	0.77	T	0.62950	-0.6745	10	0.36615	T	0.2	-10.5974	9.4342	0.38628	0.1424:0.7832:0.0:0.0744	.	183	Q9NU02	ANKR5_HUMAN	F	183	ENSP00000367644:S183F;ENSP00000367631:S183F	ENSP00000367631:S183F	S	+	2	0	ANKRD5	9973043	0.973000	0.33851	1.000000	0.80357	0.837000	0.47467	0.645000	0.24782	2.607000	0.88179	0.655000	0.94253	TCC		0.413	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	Missense_Mutation	6	105	0	0	0	1	0	6	105				
SKI	6497	broad.mit.edu	37	1	2234792	2234792	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:2234792G>A	ENST00000378536.4	+	3	1236	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	388					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CAGTGTCAGCGAGTGAGAAAG	0.622																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(1162-1164)gcG>gcA		v-ski avian sarcoma viral oncogene homolog							125.0	126.0	126.0					1																	2234792		2203	4300	6503	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2234792G>A	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1164G>A	1.37:g.2234792G>A						SKI_ENST00000478223.2_3'UTR	p.A388A	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	3	1236	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		388					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.1164G>A	CCDS39.1																																																																																				0.622	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		10	199	0	0	0	1	0	10	199				
TTK	7272	broad.mit.edu	37	6	80718147	80718147	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:80718147G>C	ENST00000369798.2	+	4	518	c.407G>C	c.(406-408)aGa>aCa	p.R136T	TTK_ENST00000230510.3_Missense_Mutation_p.R136T|TTK_ENST00000509894.1_Missense_Mutation_p.R136T	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	136					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAATGGCCAGAGCAAACTGC	0.303																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(406-408)aGa>aCa		TTK protein kinase							83.0	76.0	78.0					6																	80718147		2203	4299	6502	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80718147G>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.407G>C	6.37:g.80718147G>C	ENSP00000358813:p.Arg136Thr					TTK_ENST00000369798.2_Missense_Mutation_p.R136T|TTK_ENST00000230510.3_Missense_Mutation_p.R136T	p.R136T			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	4	1236	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	136					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.407G>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902874	0.72754	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	T;T;T;D;D;T	0.89617	1.46;1.46;1.46;-2.54;-2.54;1.46	6.16	4.18	0.49190	Tetratricopeptide-like helical (1);	0.165427	0.64402	D	0.000003	D	0.84897	0.5574	L	0.52573	1.65	0.39344	D	0.965633	D;P	0.55172	0.97;0.905	P;B	0.49999	0.628;0.425	D	0.86711	0.1936	10	0.66056	D	0.02	.	11.3325	0.49484	0.1873:0.0:0.8127:0.0	.	136;136	P33981;A8K8U5	TTK_HUMAN;.	T	136	ENSP00000422936:R136T;ENSP00000230510:R136T;ENSP00000358813:R136T;ENSP00000424851:R136T;ENSP00000421636:R136T;ENSP00000427483:R136T	ENSP00000230510:R136T	R	+	2	0	TTK	80774866	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.193000	0.42658	1.623000	0.50342	0.650000	0.86243	AGA		0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			9	190	0	0	0	1	0	9	190				
SERPINA6	866	broad.mit.edu	37	14	94780855	94780855	+	Missense_Mutation	SNP	A	A	G	rs537835110		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:94780855A>G	ENST00000341584.3	-	2	277	c.131T>C	c.(130-132)gTt>gCt	p.V44A		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	44					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGCAAAGTCAACGTTGGCTGA	0.542																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(130-132)gTt>gCt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						114.0	112.0	113.0					14																	94780855		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780855A>G	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.131T>C	14.37:g.94780855A>G	ENSP00000342850:p.Val44Ala						p.V44A	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	277	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	44					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.131T>C	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	A	4.790	0.146966	0.09134	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.83163	-1.69;-1.69	5.07	-4.57	0.03421	Serpin domain (2);	0.906329	0.09268	N	0.825550	T	0.67458	0.2895	N	0.17872	0.535	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.56571	-0.7957	10	0.02654	T	1	.	16.8302	0.85942	0.3539:0.0:0.6461:0.0	.	44	P08185	CBG_HUMAN	A	44	ENSP00000342850:V44A;ENSP00000452018:V44A	ENSP00000342850:V44A	V	-	2	0	SERPINA6	93850608	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	0.182000	0.16900	-1.159000	0.02807	-1.450000	0.01041	GTT		0.542	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		18	111	0	0	0	1	0	18	111				
CARD6	84674	broad.mit.edu	37	5	40841605	40841605	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:40841605G>A	ENST00000254691.5	+	1	320	c.121G>A	c.(121-123)Gag>Aag	p.E41K	CARD6_ENST00000381677.3_Missense_Mutation_p.E41K	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	41	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GCTGATTTCTGAGGAAGAGTA	0.408																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(121-123)Gag>Aag		caspase recruitment domain family, member 6							95.0	96.0	96.0					5																	40841605		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40841605G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.121G>A	5.37:g.40841605G>A	ENSP00000254691:p.Glu41Lys					CARD6_ENST00000381677.3_Missense_Mutation_p.E41K	p.E41K	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			1	320	+			41			CARD.		Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.121G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112351	0.77210	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.23754	1.89;1.89	4.68	3.79	0.43588	DEATH-like (2);Caspase Recruitment (3);	0.104082	0.41938	D	0.000784	T	0.45054	0.1323	M	0.62723	1.935	0.29958	N	0.819615	D	0.76494	0.999	D	0.80764	0.994	T	0.44832	-0.9302	10	0.72032	D	0.01	-4.4629	10.6334	0.45549	0.0:0.1945:0.8055:0.0	.	41	Q9BX69	CARD6_HUMAN	K	41	ENSP00000254691:E41K;ENSP00000371093:E41K	ENSP00000254691:E41K	E	+	1	0	CARD6	40877362	1.000000	0.71417	0.894000	0.35097	0.893000	0.52053	3.050000	0.49877	1.156000	0.42514	0.563000	0.77884	GAG		0.408	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			5	91	0	0	0	1	0	5	91				
CYP27B1	1594	broad.mit.edu	37	12	58160754	58160754	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:58160754G>C	ENST00000228606.4	-	1	280	c.71C>G	c.(70-72)tCc>tGc	p.S24C	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	24					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GTAGCCTAGGGAGGCGCCCAA	0.632																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(70-72)tCc>tGc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						84.0	100.0	95.0					12																	58160754		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160754G>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.71C>G	12.37:g.58160754G>C	ENSP00000228606:p.Ser24Cys					RP11-571M6.13_ENST00000546609.1_RNA	p.S24C	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	280	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		24					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.71C>G	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440490	0.63067	.	.	ENSG00000111012	ENST00000228606	T	0.76839	-1.05	4.75	3.78	0.43462	.	1.415320	0.04510	N	0.382733	T	0.74489	0.3723	N	0.08118	0	0.22213	N	0.999283	D	0.63880	0.993	P	0.55667	0.781	T	0.69183	-0.5212	10	0.59425	D	0.04	.	11.9376	0.52882	0.0:0.0:0.7491:0.2509	.	24	O15528	CP27B_HUMAN	C	24	ENSP00000228606:S24C	ENSP00000228606:S24C	S	-	2	0	CYP27B1	56447021	0.100000	0.21855	0.650000	0.29550	0.028000	0.11728	0.649000	0.24843	2.464000	0.83262	0.655000	0.94253	TCC		0.632	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		12	204	0	0	0	1	0	12	204				
CAPS2	84698	broad.mit.edu	37	12	75693620	75693620	+	Missense_Mutation	SNP	G	G	A	rs556740394		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:75693620G>A	ENST00000409445.3	-	10	1104	c.908C>T	c.(907-909)tCa>tTa	p.S303L	CAPS2_ENST00000442339.2_Intron|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409799.1_Missense_Mutation_p.S253L|CAPS2_ENST00000393284.3_Missense_Mutation_p.S71L|CAPS2_ENST00000409004.1_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	303							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CAATTACCGTGATACGATCCT	0.264																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(211-213)tCa>tTa		calcyphosine 2							48.0	46.0	47.0					12																	75693620		2194	4257	6451	SO:0001583	missense	84698						calcium ion binding	g.chr12:75693620G>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.908C>T	12.37:g.75693620G>A	ENSP00000386959:p.Ser303Leu					CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Missense_Mutation_p.S253L|CAPS2_ENST00000409445.3_Missense_Mutation_p.S303L	p.S71L			Q9BXY5	CAYP2_HUMAN			9	813	-			303					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.212C>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396622	0.62177	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	D;D;D	0.83506	-1.73;-1.73;-1.73	5.14	5.14	0.70334	.	0.213738	0.31648	N	0.007298	D	0.89051	0.6605	M	0.73962	2.25	0.80722	D	1	D;P;D;P	0.57571	0.98;0.936;0.972;0.941	P;P;P;P	0.59595	0.86;0.642;0.642;0.536	D	0.90213	0.4266	10	0.87932	D	0	-4.8819	14.559	0.68123	0.0:0.1462:0.8538:0.0	.	71;71;303;253	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	L	253;303;71;71	ENSP00000386977:S253L;ENSP00000386959:S303L;ENSP00000376963:S71L	ENSP00000367975:S71L	S	-	2	0	CAPS2	73979887	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	5.152000	0.64882	2.561000	0.86390	0.579000	0.79373	TCA		0.264	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			6	189	0	0	0	1	0	6	189				
HAVCR2	84868	broad.mit.edu	37	5	156533768	156533768	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:156533768G>A	ENST00000307851.4	-	2	994	c.264C>T	c.(262-264)ttC>ttT	p.F88F	HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Silent_p.F88F|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	88	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	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)			CTCCTTTGCGGAAATCCCCAT	0.473																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(262-264)ttC>ttT		hepatitis A virus cellular receptor 2							156.0	143.0	148.0					5																	156533768		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156533768G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.264C>T	5.37:g.156533768G>A						CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.F88F|HAVCR2_ENST00000517358.1_5'UTR	p.F88F	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	994	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	88			Ig-like V-type.		B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.264C>T	CCDS4333.1																																																																																				0.473	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			13	132	0	0	0	1	0	13	132				
MYH2	4620	broad.mit.edu	37	17	10428364	10428364	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:10428364C>T	ENST00000245503.5	-	34	5065	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1561K|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1561					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTTTCCCTCTTCATGTTCA	0.408																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4681-4683)Gag>Aag		myosin, heavy chain 2, skeletal muscle, adult							84.0	85.0	85.0					17																	10428364		2203	4298	6501	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428364C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4681G>A	17.37:g.10428364C>T	ENSP00000245503:p.Glu1561Lys					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1561K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	p.E1561K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			34	5065	-			1561					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4681G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902476	0.92035	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84730	-1.89;-1.89	5.45	5.45	0.79879	Myosin tail (1);	0.375004	0.18548	U	0.137994	D	0.94414	0.8203	M	0.92077	3.27	0.80722	D	1	D	0.59357	0.985	D	0.68943	0.961	D	0.94968	0.8114	10	0.87932	D	0	.	19.4677	0.94950	0.0:1.0:0.0:0.0	.	1561	Q9UKX2	MYH2_HUMAN	K	1561	ENSP00000245503:E1561K;ENSP00000380367:E1561K	ENSP00000245503:E1561K	E	-	1	0	MYH2	10369089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.599000	0.82757	2.838000	0.97847	0.591000	0.81541	GAG		0.408	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		15	215	0	0	0	1	0	15	215				
ADNP2	22850	broad.mit.edu	37	18	77895633	77895633	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:77895633C>T	ENST00000262198.4	+	4	2792	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	779					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATGCACCTTCCATGATATCA	0.473																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2335-2337)ttC>ttT		ADNP homeobox 2							155.0	147.0	150.0					18																	77895633		2203	4300	6503	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895633C>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2337C>T	18.37:g.77895633C>T							p.F779F	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2792	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	779					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.2337C>T	CCDS32853.1																																																																																				0.473	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		11	150	0	0	0	1	0	11	150				
PFKM	5213	broad.mit.edu	37	12	48535527	48535527	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:48535527C>T	ENST00000312352.7	+	16	1456	c.1417C>T	c.(1417-1419)Cta>Tta	p.L473L	PFKM_ENST00000551804.1_Silent_p.L442L|PFKM_ENST00000547587.1_Silent_p.L473L|PFKM_ENST00000395233.2_Silent_p.L442L|PFKM_ENST00000340802.6_Silent_p.L544L|PFKM_ENST00000359794.5_Silent_p.L473L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	473	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AACTAGGACTCTACCCAAGAA	0.483																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1630-1632)Cta>Tta		phosphofructokinase, muscle							148.0	154.0	152.0					12																	48535527		2203	4300	6503	SO:0001819	synonymous_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48535527C>T	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1417C>T	12.37:g.48535527C>T						PFKM_ENST00000551804.1_Silent_p.L442L|PFKM_ENST00000547587.1_Silent_p.L473L|PFKM_ENST00000395233.2_Silent_p.L442L|PFKM_ENST00000359794.5_Silent_p.L473L|PFKM_ENST00000312352.7_Silent_p.L473L	p.L544L	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			18	1854	+			473					J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	c.1630C>T	CCDS8760.1																																																																																				0.483	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		12	185	0	0	0	1	0	12	185				
MAGI3	260425	broad.mit.edu	37	1	114196526	114196526	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:114196526G>C	ENST00000307546.9	+	15	2590	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	MAGI3_ENST00000369617.4_Missense_Mutation_p.E864Q|MAGI3_ENST00000369615.1_Missense_Mutation_p.E839Q|MAGI3_ENST00000369611.4_Missense_Mutation_p.E839Q	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	864					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACCGGGCAGAGGTCCCAGC	0.483																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2515-2517)Gag>Cag		membrane associated guanylate kinase, WW and PDZ domain containing 3							180.0	195.0	190.0					1																	114196526		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114196526G>C	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2515G>C	1.37:g.114196526G>C	ENSP00000304604:p.Glu839Gln					MAGI3_ENST00000369611.4_Missense_Mutation_p.E839Q|MAGI3_ENST00000307546.9_Missense_Mutation_p.E839Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.E864Q	p.E839Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2577	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	864					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.2515G>C	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	8.075	0.771021	0.15983	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.15834	2.56;2.39;2.55;2.55	5.41	5.41	0.78517	.	0.334050	0.36134	N	0.002768	T	0.11281	0.0275	L	0.47716	1.5	0.53005	D	0.999966	B;B;B	0.31209	0.313;0.077;0.045	B;B;B	0.32980	0.156;0.031;0.031	T	0.06041	-1.0849	10	0.29301	T	0.29	-4.0425	19.5612	0.95373	0.0:0.0:1.0:0.0	.	839;839;864	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	Q	864;839;839;839	ENSP00000358630:E864Q;ENSP00000304604:E839Q;ENSP00000358628:E839Q;ENSP00000358624:E839Q	ENSP00000304604:E839Q	E	+	1	0	MAGI3	113998049	1.000000	0.71417	0.903000	0.35520	0.115000	0.19883	6.583000	0.74053	2.687000	0.91594	0.655000	0.94253	GAG		0.483	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		20	310	0	0	0	1	0	20	310				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	28	0	0	0	1	0	5	28				
SIRT5	23408	broad.mit.edu	37	6	13584426	13584426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:13584426G>C	ENST00000606117.1	+	3	380	c.84G>C	c.(82-84)caG>caC	p.Q28H	SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000379262.4_Missense_Mutation_p.Q28H|SIRT5_ENST00000359782.3_Missense_Mutation_p.Q28H	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CACGAAACCAGATTTGCCTGA	0.483																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(82-84)caG>caC		sirtuin 5	Suramin(DB04786)						132.0	123.0	126.0					6																	13584426		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13584426G>C	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.84G>C	6.37:g.13584426G>C	ENSP00000476228:p.Gln28His					SIRT5_ENST00000379262.4_Missense_Mutation_p.Q28H|SIRT5_ENST00000359782.3_Missense_Mutation_p.Q28H|SIRT5_ENST00000397350.2_5'UTR	p.Q28H	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		3	380	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	28						Missense_Mutation	SNP	ENST00000606117.1	37	c.84G>C	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	8.139	0.784695	0.16189	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.23147	2.51;1.92;2.51	5.11	4.24	0.50183	.	1.115670	0.06876	N	0.801640	T	0.05364	0.0142	N	0.14661	0.345	0.25587	N	0.986738	P;P;P	0.39181	0.474;0.533;0.663	B;B;B	0.33690	0.115;0.081;0.168	T	0.22312	-1.0220	10	0.46703	T	0.11	-14.9536	5.9094	0.19018	0.0744:0.1352:0.6506:0.1398	.	28;28;28	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	H	28	ENSP00000352830:Q28H;ENSP00000368564:Q28H;ENSP00000368552:Q28H	ENSP00000352830:Q28H	Q	+	3	2	SIRT5	13692405	0.159000	0.22864	0.718000	0.30602	0.193000	0.23685	0.027000	0.13621	1.289000	0.44618	0.563000	0.77884	CAG		0.483	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			6	89	0	0	0	1	0	6	89				
GRIP1	23426	broad.mit.edu	37	12	66773095	66773095	+	Silent	SNP	C	C	G	rs181105564		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:66773095C>G	ENST00000398016.3	-	19	2498	c.2430G>C	c.(2428-2430)ctG>ctC	p.L810L	GRIP1_ENST00000286445.7_Silent_p.L862L|GRIP1_ENST00000359742.4_Silent_p.L862L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCATAACTCAGCCCCACAT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17111	0.0		0.001	False		,,,				2504	0.0					ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2584-2586)ctG>ctC		glutamate receptor interacting protein 1							184.0	179.0	181.0					12																	66773095		1935	4130	6065	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66773095C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2430G>C	12.37:g.66773095C>G						GRIP1_ENST00000286445.7_Silent_p.L862L|GRIP1_ENST00000398016.3_Silent_p.L810L	p.L862L			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	20	2826	-			862					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.2586G>C	CCDS41807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.325	0.825150	0.16749	.	.	ENSG00000155974	ENST00000538164	.	.	.	4.8	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.6899	3.0274	0.06096	0.1464:0.5577:0.1417:0.1541	.	.	.	.	S	677	.	.	X	-	2	2	GRIP1	65059362	0.995000	0.38212	0.996000	0.52242	0.956000	0.61745	0.450000	0.21762	0.702000	0.31825	0.561000	0.74099	TGA		0.502	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			8	231	0	0	0	1	0	8	231				
GALC	2581	broad.mit.edu	37	14	88429749	88429749	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:88429749G>A	ENST00000261304.2	-	10	1246	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	GALC_ENST00000544807.2_Silent_p.L324L|GALC_ENST00000393569.2_Silent_p.L354L|GALC_ENST00000393568.4_Silent_p.L357L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	380					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGATGATGGTGAGGTTCCCTA	0.378																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1138-1140)ctC>ctT		galactosylceramidase							143.0	135.0	137.0					14																	88429749		1885	4108	5993	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88429749G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1140C>T	14.37:g.88429749G>A						GALC_ENST00000393569.2_Silent_p.L354L|GALC_ENST00000393568.4_Silent_p.L357L|GALC_ENST00000544807.2_Silent_p.L324L	p.L380L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			10	1246	-			380					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.1140C>T	CCDS9878.2																																																																																				0.378	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			5	100	0	0	0	1	0	5	100				
SMYD2	56950	broad.mit.edu	37	1	214488132	214488132	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:214488132G>A	ENST00000366957.5	+	3	287	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.E89K	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCACAAGCTGGAATGTTCTCC	0.423																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(265-267)Gaa>Aaa		SET and MYND domain containing 2							99.0	97.0	98.0					1																	214488132		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214488132G>A	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.265G>A	1.37:g.214488132G>A	ENSP00000355924:p.Glu89Lys					SMYD2_ENST00000415093.2_Missense_Mutation_p.E89K|SMYD2_ENST00000491455.1_3'UTR	p.E89K	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	3	287	+			89					B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.265G>A	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669121	0.96754	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.14022	2.54;2.54	5.57	5.57	0.84162	SET domain (2);Zinc finger, MYND-type (2);	0.044496	0.85682	D	0.000000	T	0.37404	0.1002	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02975	-1.1087	10	0.87932	D	0	-3.7688	19.898	0.96973	0.0:0.0:1.0:0.0	.	89	Q9NRG4	SMYD2_HUMAN	K	89	ENSP00000355924:E89K;ENSP00000388682:E89K	ENSP00000355924:E89K	E	+	1	0	SMYD2	212554755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.780000	0.95670	0.561000	0.74099	GAA		0.423	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		4	105	0	0	0	1	0	4	105				
FRYL	285527	broad.mit.edu	37	4	48502084	48502084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:48502084C>G	ENST00000503238.1	-	60	8745	c.8746G>C	c.(8746-8748)Gaa>Caa	p.E2916Q	FRYL_ENST00000537810.1_Missense_Mutation_p.E2916Q|FRYL_ENST00000264319.7_Missense_Mutation_p.E306Q|FRYL_ENST00000358350.4_Missense_Mutation_p.E2916Q|FRYL_ENST00000507873.2_Missense_Mutation_p.E306Q			O94915	FRYL_HUMAN	FRY-like	2916					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.E2916*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATATAAATTCTTTATTTTTC	0.343																																						ENST00000358350.4																			1	Substitution - Nonsense(1)	p.E2916*(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8746-8748)Gaa>Caa		FRY-like							69.0	67.0	68.0					4																	48502084		1812	4065	5877	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48502084C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8746G>C	4.37:g.48502084C>G	ENSP00000426064:p.Glu2916Gln					FRYL_ENST00000507873.2_Missense_Mutation_p.E306Q|FRYL_ENST00000264319.7_Missense_Mutation_p.E306Q|FRYL_ENST00000537810.1_Missense_Mutation_p.E2916Q|FRYL_ENST00000503238.1_Missense_Mutation_p.E2916Q	p.E2916Q	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			63	9350	-			2916					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8746G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088487	0.76756	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23552	1.9;1.9;1.9	5.95	5.95	0.96441	.	0.159210	0.41001	U	0.000973	T	0.33498	0.0865	L	0.48642	1.525	0.58432	D	0.999999	B;B;P	0.51791	0.159;0.38;0.948	B;P;P	0.48227	0.306;0.502;0.571	T	0.00731	-1.1590	10	0.22706	T	0.39	.	20.3719	0.98893	0.0:1.0:0.0:0.0	.	2916;2916;306	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	Q	2916;2916;2916;306;306	ENSP00000426064:E2916Q;ENSP00000351113:E2916Q;ENSP00000441114:E2916Q	ENSP00000264319:E306Q	E	-	1	0	FRYL	48196841	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.826000	0.97356	0.491000	0.48974	GAA		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	69	0	0	0	1	0	4	69				
CNTN6	27255	broad.mit.edu	37	3	1262490	1262490	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:1262490C>T	ENST00000446702.2	+	3	802	c.175C>T	c.(175-177)Cat>Tat	p.H59Y	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Missense_Mutation_p.H59Y			Q9UQ52	CNTN6_HUMAN	contactin 6	59	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCCTTCGCCTCATTATAGGTA	0.363																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(175-177)Cat>Tat		contactin 6							136.0	130.0	132.0					3																	1262490		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1262490C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.175C>T	3.37:g.1262490C>T	ENSP00000407822:p.His59Tyr					CNTN6_ENST00000350110.2_Missense_Mutation_p.H59Y|CNTN6_ENST00000539053.1_5'UTR	p.H59Y			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	3	802	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	59			Ig-like C2-type 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.175C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	0.585	-0.835397	0.02713	.	.	ENSG00000134115	ENST00000446702;ENST00000350110	T;T	0.67171	-0.25;-0.25	5.81	3.93	0.45458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.631626	0.15587	N	0.254574	T	0.53674	0.1811	M	0.64404	1.975	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.32903	-0.9889	10	0.17369	T	0.5	.	1.1118	0.01706	0.3171:0.3487:0.1806:0.1535	.	59	Q9UQ52	CNTN6_HUMAN	Y	59	ENSP00000407822:H59Y;ENSP00000341882:H59Y	ENSP00000341882:H59Y	H	+	1	0	CNTN6	1237490	0.000000	0.05858	0.932000	0.37286	0.815000	0.46073	-0.011000	0.12721	2.736000	0.93811	0.655000	0.94253	CAT		0.363	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		8	129	0	0	0	1	0	8	129				
RBAK	57786	broad.mit.edu	37	7	5104496	5104496	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:5104496C>T	ENST00000353796.3	+	6	1733	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.S470L|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	470	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AATTTAAATTCAGCCTTCATT	0.368																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1408-1410)tCa>tTa		RB-associated KRAB zinc finger							54.0	56.0	56.0					7																	5104496		2203	4299	6502	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104496C>T	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1409C>T	7.37:g.5104496C>T	ENSP00000275423:p.Ser470Leu					RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S470L|RBAK_ENST00000396904.2_Intron	p.S470L	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1928	+		Ovarian(82;0.0175)	470			Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1409C>T	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527792	0.44969	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.17691	2.26;2.26	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000715	T	0.38081	0.1027	M	0.79475	2.455	0.34350	D	0.689755	D	0.57899	0.981	D	0.69824	0.966	T	0.51317	-0.8721	8	.	.	.	.	9.5542	0.39328	0.0:0.7847:0.2152:0.0	.	470	Q9NYW8	RBAK_HUMAN	L	470	ENSP00000275423:S470L;ENSP00000380120:S470L	.	S	+	2	0	RBAK	5071022	0.000000	0.05858	0.994000	0.49952	0.993000	0.82548	0.682000	0.25335	2.386000	0.81285	0.555000	0.69702	TCA		0.368	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		8	101	0	0	0	1	0	8	101				
MMP27	64066	broad.mit.edu	37	11	102564686	102564686	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:102564686C>T	ENST00000260229.4	-	8	1235	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	382					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GTGGTCTTATCACAGACGGCT	0.393																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1144-1146)Gat>Aat		matrix metallopeptidase 27							144.0	136.0	138.0					11																	102564686		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102564686C>T	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1144G>A	11.37:g.102564686C>T	ENSP00000260229:p.Asp382Asn						p.D382N	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	8	1235	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	382			Hemopexin-like 3.		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.1144G>A	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246920	0.10130	.	.	ENSG00000137675	ENST00000260229	T	0.13778	2.56	4.79	2.76	0.32466	Hemopexin/matrixin (2);	0.216848	0.32055	N	0.006645	T	0.09423	0.0232	N	0.21448	0.665	0.09310	N	1	B	0.18013	0.025	B	0.24006	0.05	T	0.29852	-0.9998	10	0.25751	T	0.34	.	11.3933	0.49827	0.0:0.7738:0.0:0.2262	.	382	Q9H306	MMP27_HUMAN	N	382	ENSP00000260229:D382N	ENSP00000260229:D382N	D	-	1	0	MMP27	102069896	0.000000	0.05858	0.891000	0.34965	0.463000	0.32649	0.065000	0.14466	1.228000	0.43614	-0.140000	0.14226	GAT		0.393	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		13	158	0	0	0	1	0	13	158				
RNF168	165918	broad.mit.edu	37	3	196210708	196210708	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:196210708C>T	ENST00000318037.3	-	4	1207	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	205					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTAACTGGATCAGATTTTCTG	0.348																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(613-615)Gat>Aat		ring finger protein 168, E3 ubiquitin protein ligase							207.0	206.0	206.0					3																	196210708		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210708C>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.613G>A	3.37:g.196210708C>T	ENSP00000320898:p.Asp205Asn						p.D205N	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1207	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		205					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.613G>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	4.597	0.111025	0.08831	.	.	ENSG00000163961	ENST00000318037	T	0.07327	3.2	6.06	-0.859	0.10685	.	0.545919	0.16297	N	0.220652	T	0.08582	0.0213	M	0.75447	2.3	0.09310	N	0.999999	B	0.18863	0.031	B	0.12837	0.008	T	0.28681	-1.0036	10	0.45353	T	0.12	-9.1076	2.0902	0.03655	0.4067:0.3046:0.0932:0.1956	.	205	Q8IYW5	RN168_HUMAN	N	205	ENSP00000320898:D205N	ENSP00000320898:D205N	D	-	1	0	RNF168	197695105	0.001000	0.12720	0.103000	0.21229	0.254000	0.26022	-0.026000	0.12392	-0.061000	0.13110	-1.028000	0.02416	GAT		0.348	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		6	213	0	0	0	1	0	6	213				
MUC16	94025	broad.mit.edu	37	19	9009320	9009320	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:9009320G>C	ENST00000397910.4	-	40	39356	c.39153C>G	c.(39151-39153)ttC>ttG	p.F13051L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13053	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGGAGTTCTTGAACAAGGGAC	0.532																																						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.(39151-39153)ttC>ttG		mucin 16, cell surface associated							117.0	102.0	106.0					19																	9009320		1981	4174	6155	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009320G>C	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.39153C>G	19.37:g.9009320G>C	ENSP00000381008:p.Phe13051Leu						p.F13051L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			40	39356	-			13053			SEA 7.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39153C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.420	0.846234	0.16963	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.48836	0.8	2.6	1.45	0.22620	.	.	.	.	.	T	0.43344	0.1243	M	0.75264	2.295	.	.	.	P	0.39717	0.684	B	0.34991	0.193	T	0.54118	-0.8341	8	0.87932	D	0	-15.5012	7.4885	0.27447	0.0:0.2715:0.7285:0.0	.	13051	B5ME49	.	L	13051;204	ENSP00000381008:F13051L	ENSP00000381008:F13051L	F	-	3	2	MUC16	8870320	0.153000	0.22777	0.015000	0.15790	0.023000	0.10783	0.712000	0.25779	0.323000	0.23307	0.305000	0.20034	TTC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	115	0	0	0	1	0	10	115				
CHUK	1147	broad.mit.edu	37	10	101969423	101969423	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:101969423C>T	ENST00000370397.7	-	10	1143	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	353					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GAAAGAAGTTCTTGAGAACCA	0.368																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(1057-1059)Gaa>Aaa		conserved helix-loop-helix ubiquitous kinase							69.0	70.0	70.0					10																	101969423		2203	4300	6503	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101969423C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1057G>A	10.37:g.101969423C>T	ENSP00000359424:p.Glu353Lys						p.E353K	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	10	1143	-		Colorectal(252;0.117)	353					O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.1057G>A	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610100	0.87258	.	.	ENSG00000213341	ENST00000370397	T	0.54279	0.58	5.93	5.93	0.95920	.	0.048884	0.85682	D	0.000000	T	0.55940	0.1952	M	0.74647	2.275	0.80722	D	1	P	0.43094	0.799	B	0.37650	0.255	T	0.63404	-0.6645	10	0.66056	D	0.02	-18.3976	17.8404	0.88713	0.0:1.0:0.0:0.0	.	353	O15111	IKKA_HUMAN	K	353	ENSP00000359424:E353K	ENSP00000359424:E353K	E	-	1	0	CHUK	101959413	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	7.818000	0.86416	2.798000	0.96311	0.655000	0.94253	GAA		0.368	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		5	83	0	0	0	1	0	5	83				
STAG3L4	64940	broad.mit.edu	37	7	66771028	66771028	+	RNA	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:66771028C>T	ENST00000416602.2	+	0	320					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGCAGGATTTCTGGAGCTTGT	0.393																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															177.0	184.0	182.0					7																	66771028		2203	4300	6503			64940							g.chr7:66771028C>T			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66771028C>T								NR_040586.1		Q8TBR4	STG34_HUMAN			0	320	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37																																																																																						0.393	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		5	193	0	0	0	1	0	5	193				
RGS12	6002	broad.mit.edu	37	4	3424646	3424646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:3424646C>G	ENST00000344733.5	+	12	3952	c.3048C>G	c.(3046-3048)caC>caG	p.H1016Q	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.H1016Q|RGS12_ENST00000306648.7_Missense_Mutation_p.H414Q|RGS12_ENST00000382788.3_Missense_Mutation_p.H1016Q|RGS12_ENST00000338806.4_Missense_Mutation_p.H368Q|RGS12_ENST00000538395.1_Missense_Mutation_p.H358Q	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1016	RBD 1. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTGCTGCACCAAGACAGTA	0.582																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3046-3048)caC>caG		regulator of G-protein signaling 12							101.0	91.0	95.0					4																	3424646		2202	4300	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3424646C>G	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3048C>G	4.37:g.3424646C>G	ENSP00000339381:p.His1016Gln					RGS12_ENST00000306648.7_Missense_Mutation_p.H414Q|RGS12_ENST00000538395.1_Missense_Mutation_p.H358Q|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.H1016Q|RGS12_ENST00000344733.5_Missense_Mutation_p.H1016Q|RGS12_ENST00000338806.4_Missense_Mutation_p.H368Q	p.H1016Q	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	12	3952	+			1016			RBD 1.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3048C>G	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895257	0.33442	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.34072	1.69;1.69;1.69;1.38;1.39;1.39	4.6	-3.63	0.04529	Raf-like Ras-binding (3);	0.119789	0.56097	N	0.000033	T	0.22666	0.0547	L	0.36672	1.1	0.31480	N	0.667284	B;B;B;B;B;B;B;B	0.22003	0.011;0.063;0.063;0.005;0.005;0.011;0.002;0.002	B;B;B;B;B;B;B;B	0.22152	0.023;0.038;0.038;0.034;0.008;0.023;0.035;0.021	T	0.02378	-1.1168	10	0.59425	D	0.04	-11.682	7.3893	0.26901	0.0:0.3139:0.131:0.5551	.	358;215;215;358;368;414;1016;1016	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	Q	1016;1016;1016;414;368;358	ENSP00000339381:H1016Q;ENSP00000338509:H1016Q;ENSP00000372238:H1016Q;ENSP00000304459:H414Q;ENSP00000342133:H368Q;ENSP00000438888:H358Q	ENSP00000304459:H414Q	H	+	3	2	RGS12	3394444	0.169000	0.23002	0.868000	0.34077	0.933000	0.57130	-0.506000	0.06359	-1.495000	0.01831	-0.481000	0.04817	CAC		0.582	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		9	109	0	0	0	1	0	9	109				
FAM71B	153745	broad.mit.edu	37	5	156589669	156589669	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:156589669G>C	ENST00000302938.4	-	2	1702	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	536						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTAAAAAAGAGCTGATCTT	0.463																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1606-1608)tCt>tGt		family with sequence similarity 71, member B							123.0	126.0	125.0					5																	156589669		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589669G>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1607C>G	5.37:g.156589669G>C	ENSP00000305596:p.Ser536Cys						p.S536C	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1702	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	536					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1607C>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135140	0.37728	.	.	ENSG00000170613	ENST00000302938	T	0.20463	2.07	3.87	2.04	0.26737	.	0.000000	0.40385	N	0.001103	T	0.40839	0.1133	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.13791	-1.0496	10	0.72032	D	0.01	-1.7355	10.2078	0.43124	0.0:0.3947:0.6053:0.0	.	536	Q8TC56	FA71B_HUMAN	C	536	ENSP00000305596:S536C	ENSP00000305596:S536C	S	-	2	0	FAM71B	156522247	0.850000	0.29656	0.002000	0.10522	0.070000	0.16714	1.622000	0.36997	0.569000	0.29329	0.655000	0.94253	TCT		0.463	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		4	93	0	0	0	1	0	4	93				
HERPUD1	9709	broad.mit.edu	37	16	56973985	56973985	+	Missense_Mutation	SNP	C	C	T	rs201101074		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:56973985C>T	ENST00000439977.2	+	6	930	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R244W|HERPUD1_ENST00000379792.2_Missense_Mutation_p.R220W|RP11-325K4.3_ENST00000565861.1_RNA|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	245					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TCAAAATTTGCGGATGAATGC	0.438			T	ERG	prostate								C|||	1	0.000199681	0.0	0.0	5008	,	,		20595	0.0		0.001	False		,,,				2504	0.0					ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(733-735)Cgg>Tgg		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							133.0	125.0	127.0					16																	56973985		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973985C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.733C>T	16.37:g.56973985C>T	ENSP00000409555:p.Arg245Trp					HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R244W|HERPUD1_ENST00000379792.2_Missense_Mutation_p.R220W	p.R245W	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			6	930	+			245					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.733C>T	CCDS10771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.0	4.362128	0.82353	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.21031	2.03	5.89	4.92	0.64577	.	0.052178	0.85682	D	0.000000	T	0.42653	0.1212	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;0.989;1.0;0.998	P;P;D;P	0.71870	0.87;0.768;0.975;0.802	T	0.35475	-0.9787	10	0.66056	D	0.02	-13.5499	13.7212	0.62728	0.2948:0.7052:0.0:0.0	.	245;220;244;245	A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	W	244;220;245	ENSP00000369118:R220W	ENSP00000300302:R245W	R	+	1	2	HERPUD1	55531486	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	3.864000	0.56024	1.449000	0.47699	0.655000	0.94253	CGG		0.438	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			4	107	0	0	0	1	0	4	107				
STK17B	9262	broad.mit.edu	37	2	197008314	197008314	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:197008314G>A	ENST00000263955.4	-	5	863	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	STK17B_ENST00000409228.1_Missense_Mutation_p.R193W	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATGATTTCCCGAAGTTCACAC	0.338																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(577-579)Cgg>Tgg		serine/threonine kinase 17b							86.0	91.0	90.0					2																	197008314		2202	4300	6502	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197008314G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.577C>T	2.37:g.197008314G>A	ENSP00000263955:p.Arg193Trp					STK17B_ENST00000409228.1_Missense_Mutation_p.R193W	p.R193W	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		5	863	-			193			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.577C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996694	0.74818	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.66460	-0.21;-0.21	5.29	4.34	0.51931	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	0.45361	D	0.000369	T	0.79493	0.4455	M	0.67397	2.05	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.81258	-0.1014	10	0.87932	D	0	.	14.5946	0.68395	0.0:0.0:0.778:0.222	.	193	O94768	ST17B_HUMAN	W	193	ENSP00000263955:R193W;ENSP00000386853:R193W	ENSP00000263955:R193W	R	-	1	2	STK17B	196716559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.223000	0.42936	2.746000	0.94184	0.655000	0.94253	CGG		0.338	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			7	121	0	0	0	1	0	7	121				
RIC1	57589	broad.mit.edu	37	9	5763450	5763450	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:5763450G>A	ENST00000414202.2	+	19	2614	c.2423G>A	c.(2422-2424)aGa>aAa	p.R808K	KIAA1432_ENST00000251879.6_Missense_Mutation_p.R808K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R729K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R729K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R692K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AACAATGCTAGAGAACAGCTG	0.448																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2422-2424)aGa>aAa		KIAA1432							168.0	160.0	163.0					9																	5763450		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763450G>A																												ENST00000414202.2:c.2423G>A	9.37:g.5763450G>A	ENSP00000416696:p.Arg808Lys					KIAA1432_ENST00000418622.3_Missense_Mutation_p.R729K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R808K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R692K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R729K	p.R808K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2614	+		Acute lymphoblastic leukemia(23;0.154)	808						Missense_Mutation	SNP	ENST00000414202.2	37	c.2423G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102222	0.06967	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	1.42	0.22433	Ribosome control protein 1 (1);	0.283792	0.45361	N	0.000371	T	0.30386	0.0763	L	0.43923	1.385	0.31459	N	0.669792	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.34279	-0.9835	9	0.06236	T	0.91	-10.182	7.5034	0.27530	0.2711:0.0:0.6173:0.1116	.	692;729;808;808	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	K	808;808;729;729;692	.	ENSP00000251879:R808K	R	+	2	0	KIAA1432	5753450	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	1.809000	0.38922	0.381000	0.24851	0.561000	0.74099	AGA		0.448	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			15	189	0	0	0	1	0	15	189				
OLFML2A	169611	broad.mit.edu	37	9	127549484	127549484	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:127549484G>A	ENST00000373580.3	+	2	321	c.321G>A	c.(319-321)gaG>gaA	p.E107E		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	107					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGAAGATGGAGAAACTCAAAA	0.587																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(319-321)gaG>gaA		olfactomedin-like 2A							53.0	61.0	59.0					9																	127549484		2040	4189	6229	SO:0001819	synonymous_variant	169611							g.chr9:127549484G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.321G>A	9.37:g.127549484G>A							p.E107E	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	321	+			107					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.321G>A	CCDS6857.2																																																																																				0.587	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		5	49	0	0	0	1	0	5	49				
IRX6	79190	broad.mit.edu	37	16	55359008	55359008	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:55359008C>G	ENST00000290552.7	+	1	1337	c.5C>G	c.(4-6)tCc>tGc	p.S2C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	2					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCACCATGTCCTTCCCACAC	0.627																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(4-6)tCc>tGc		iroquois homeobox 6							61.0	58.0	59.0					16																	55359008		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55359008C>G	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.5C>G	16.37:g.55359008C>G	ENSP00000290552:p.Ser2Cys					RP11-26L20.3_ENST00000558730.2_RNA	p.S2C	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			1	1337	+			2					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.5C>G	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208099	0.95033	.	.	ENSG00000159387	ENST00000290552	D	0.94376	-3.41	5.02	5.02	0.67125	.	0.441113	0.24630	N	0.036894	D	0.96197	0.8760	M	0.75615	2.305	0.49798	D	0.999827	D	0.76494	0.999	P	0.62813	0.907	D	0.96585	0.9433	10	0.87932	D	0	-18.7158	18.5361	0.91011	0.0:1.0:0.0:0.0	.	2	P78412	IRX6_HUMAN	C	2	ENSP00000290552:S2C	ENSP00000290552:S2C	S	+	2	0	IRX6	53916509	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.068000	0.76748	2.614000	0.88457	0.555000	0.69702	TCC		0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		4	42	0	0	0	1	0	4	42				
WDR45	11152	broad.mit.edu	37	X	48934116	48934116	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:48934116C>G	ENST00000376372.3	-	6	590	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.E102Q|PRAF2_ENST00000376390.4_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.E137Q|WDR45_ENST00000473974.1_Missense_Mutation_p.E137Q|WDR45_ENST00000376368.2_Missense_Mutation_p.E138Q|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000356463.3_Missense_Mutation_p.E138Q|WDR45_ENST00000396681.4_Missense_Mutation_p.E137Q|WDR45_ENST00000465431.1_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	137					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTATCAAACTCAAACAGCTTT	0.537																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(412-414)Gag>Cag		WD repeat domain 45							151.0	131.0	138.0					X																	48934116		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48934116C>G	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.409G>C	X.37:g.48934116C>G	ENSP00000365551:p.Glu137Gln					WDR45_ENST00000322995.8_Missense_Mutation_p.E137Q|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.E137Q|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.E138Q|WDR45_ENST00000376372.3_Missense_Mutation_p.E137Q|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000485908.1_Missense_Mutation_p.E102Q|WDR45_ENST00000473974.1_Missense_Mutation_p.E137Q	p.E138Q	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			7	850	-			137					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.412G>C	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.68|17.68	3.449872|3.449872	0.63290|0.63290	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382|ENST00000367375	T;T;T;T;T;T;T;T;T;T;T;T|.	0.74842|.	-0.88;-0.88;-0.88;3.53;-0.88;-0.88;-0.88;3.53;-0.88;-0.88;3.53;3.53|.	4.05|4.05	4.05|4.05	0.47172|0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.49643|.	0.1569|.	N|N	0.17800|0.17800	0.525|0.525	0.58432|0.58432	D|D	0.999991|0.999991	P;P;P;P;B|.	0.48089|.	0.804;0.877;0.905;0.877;0.034|.	B;P;P;P;B|.	0.53224|.	0.379;0.649;0.599;0.721;0.013|.	T|.	0.45338|.	-0.9268|.	10|.	0.12430|.	T|.	0.62|.	-17.5496|-17.5496	14.9061|14.9061	0.70721|0.70721	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	137;137;102;138;137|.	C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;.;WIPI4_HUMAN|.	Q|S	137;137;138;102;137;138;137;103;162;155;102;137|93	ENSP00000365551:E137Q;ENSP00000365543:E137Q;ENSP00000348848:E138Q;ENSP00000419897:E102Q;ENSP00000417211:E137Q;ENSP00000365546:E138Q;ENSP00000379913:E137Q;ENSP00000418919:E103Q;ENSP00000420728:E162Q;ENSP00000393640:E155Q;ENSP00000419324:E102Q;ENSP00000420534:E137Q|.	ENSP00000365543:E137Q|.	E|X	-|-	1|2	0|2	WDR45|WDR45	48821060|48821060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.492000|7.492000	0.81482|0.81482	1.952000|1.952000	0.56665|0.56665	0.529000|0.529000	0.55759|0.55759	GAG|TGA		0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		7	87	0	0	0	1	0	7	87				
DHX9	1660	broad.mit.edu	37	1	182836128	182836128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:182836128C>T	ENST00000367549.3	+	14	1617	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	503	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCAGGCATTCGAGGAATCAG	0.308																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1507-1509)Cga>Tga		DEAH (Asp-Glu-Ala-His) box helicase 9							178.0	160.0	166.0					1																	182836128		1818	4078	5896	SO:0001587	stop_gained	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182836128C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1507C>T	1.37:g.182836128C>T	ENSP00000356520:p.Arg503*						p.R503*	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			14	1617	+			503			Helicase ATP-binding.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	37	c.1507C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	38	7.152408	0.98099	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7009	0.57032	0.1651:0.8349:0.0:0.0	.	.	.	.	X	503	.	ENSP00000356520:R503X	R	+	1	2	DHX9	181102751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	2.457000	0.83068	0.591000	0.81541	CGA		0.308	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		6	156	0	0	0	1	0	6	156				
ZFYVE1	53349	broad.mit.edu	37	14	73437692	73437692	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:73437692G>A	ENST00000556143.1	-	12	2952	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	ZFYVE1_ENST00000555072.1_Silent_p.F329F|ZFYVE1_ENST00000394207.2_Silent_p.F329F|ZFYVE1_ENST00000553891.1_Silent_p.F744F|ZFYVE1_ENST00000318876.5_Silent_p.F730F	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	744					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACTCATCACAGAAGCCCTGTC	0.592																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(2230-2232)ttC>ttT		zinc finger, FYVE domain containing 1							84.0	81.0	82.0					14																	73437692		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73437692G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2232C>T	14.37:g.73437692G>A						ZFYVE1_ENST00000394207.2_Silent_p.F329F|ZFYVE1_ENST00000553891.1_Silent_p.F744F|ZFYVE1_ENST00000318876.5_Silent_p.F730F|ZFYVE1_ENST00000555072.1_Silent_p.F329F	p.F744F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	12	2952	-		all_lung(585;1.33e-09)	744					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.2232C>T	CCDS9811.1																																																																																				0.592	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		11	94	0	0	0	1	0	11	94				
PIK3C2A	5286	broad.mit.edu	37	11	17139073	17139073	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:17139073C>G	ENST00000265970.7	-	18	3180	c.3181G>C	c.(3181-3183)Gaa>Caa	p.E1061Q	RNU6-593P_ENST00000364716.1_RNA|PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E681Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1061					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTTACTTTTTCTGCTACTCCT	0.408																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3181-3183)Gaa>Caa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						140.0	139.0	140.0					11																	17139073		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17139073C>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3181G>C	11.37:g.17139073C>G	ENSP00000265970:p.Glu1061Gln					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E681Q|PIK3C2A_ENST00000531428.1_Intron	p.E1061Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			18	3180	-			1061					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.3181G>C	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793524	0.70452	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.80214	-1.35;-1.35	5.51	5.51	0.81932	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.82364	-0.0494	10	0.23302	T	0.38	-18.2269	19.4111	0.94673	0.0:1.0:0.0:0.0	.	1061	O00443	P3C2A_HUMAN	Q	1061;681	ENSP00000265970:E1061Q;ENSP00000438687:E681Q	ENSP00000265970:E1061Q	E	-	1	0	PIK3C2A	17095649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.142000	0.77339	2.597000	0.87782	0.591000	0.81541	GAA		0.408	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	156	0	0	0	1	0	7	156				
TLR2	7097	broad.mit.edu	37	4	154626061	154626061	+	Missense_Mutation	SNP	C	C	G	rs531080680		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:154626061C>G	ENST00000260010.6	+	1	3410	c.2002C>G	c.(2002-2004)Ccc>Gcc	p.P668A		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	668	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GAACTTCAATCCCCCCTTCAA	0.463																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(2002-2004)Ccc>Gcc		toll-like receptor 2							61.0	61.0	61.0					4																	154626061		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154626061C>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2002C>G	4.37:g.154626061C>G	ENSP00000260010:p.Pro668Ala						p.P668A	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	3410	+	all_hematologic(180;0.093)	Renal(120;0.117)	668			TIR.		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.2002C>G	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388475	0.42308	.	.	ENSG00000137462	ENST00000260010	T	0.08282	3.11	5.5	5.5	0.81552	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.290028	0.32578	N	0.005906	T	0.20901	0.0503	M	0.85197	2.74	0.53688	D	0.99997	P	0.52463	0.953	B	0.43950	0.437	T	0.07635	-1.0762	10	0.87932	D	0	.	19.3804	0.94530	0.0:1.0:0.0:0.0	.	668	O60603	TLR2_HUMAN	A	668	ENSP00000260010:P668A	ENSP00000260010:P668A	P	+	1	0	TLR2	154845511	0.984000	0.35163	0.928000	0.36995	0.948000	0.59901	2.797000	0.47877	2.580000	0.87095	0.655000	0.94253	CCC		0.463	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			4	139	0	0	0	1	0	4	139				
RFWD2	64326	broad.mit.edu	37	1	176012350	176012350	+	Silent	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:176012350G>C	ENST00000367669.3	-	14	2098	c.1584C>G	c.(1582-1584)ctC>ctG	p.L528L	RFWD2_ENST00000308769.8_Silent_p.L504L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	528					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGAAGCCAAGAGTTTAGGAT	0.438																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1582-1584)ctC>ctG		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							183.0	176.0	179.0					1																	176012350		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176012350G>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1584C>G	1.37:g.176012350G>C						RFWD2_ENST00000308769.8_Silent_p.L504L	p.L528L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			14	2098	-			528					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1584C>G	CCDS30944.1																																																																																				0.438	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		5	172	0	0	0	1	0	5	172				
SF3B1	23451	broad.mit.edu	37	2	198260841	198260841	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:198260841C>T	ENST00000335508.6	-	23	3569	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1160					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTCCCATTTCACCAATATAT	0.333			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(3478-3480)Gaa>Aaa		splicing factor 3b, subunit 1, 155kDa							126.0	122.0	123.0					2																	198260841		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198260841C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3478G>A	2.37:g.198260841C>T	ENSP00000335321:p.Glu1160Lys						p.E1160K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		23	3569	-			1160					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.3478G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228787	0.79576	.	.	ENSG00000115524	ENST00000335508	T	0.66099	-0.19	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	M	0.79805	2.47	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.80551	-0.1332	10	0.49607	T	0.09	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1160	O75533	SF3B1_HUMAN	K	1160	ENSP00000335321:E1160K	ENSP00000335321:E1160K	E	-	1	0	SF3B1	197969086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.576000	0.82467	2.826000	0.97356	0.655000	0.94253	GAA		0.333	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			12	155	0	0	0	1	0	12	155				
DHX9	1660	broad.mit.edu	37	1	182856289	182856289	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:182856289C>G	ENST00000367549.3	+	28	3643	c.3533C>G	c.(3532-3534)tCt>tGt	p.S1178C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1178	NTD.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.S1178F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGGGGAGGTTCTAGTTACAGT	0.532																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			1	Substitution - Missense(1)	p.S1178F(1)	skin(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3532-3534)tCt>tGt		DEAH (Asp-Glu-Ala-His) box helicase 9							131.0	138.0	136.0					1																	182856289		1997	4164	6161	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182856289C>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3533C>G	1.37:g.182856289C>G	ENSP00000356520:p.Ser1178Cys					DHX9_ENST00000485081.1_3'UTR	p.S1178C	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			28	3643	+			1178			NTD.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3533C>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	8.110	0.778573	0.16120	.	.	ENSG00000135829	ENST00000367549	D	0.82711	-1.64	3.06	3.06	0.35304	.	.	.	.	.	T	0.57198	0.2037	N	0.03608	-0.345	0.21355	N	0.999714	P;P	0.47106	0.89;0.89	B;B	0.26693	0.072;0.072	T	0.54262	-0.8320	9	0.66056	D	0.02	.	10.2727	0.43491	0.0:1.0:0.0:0.0	.	457;1178	B3KU66;Q08211	.;DHX9_HUMAN	C	1178	ENSP00000356520:S1178C	ENSP00000356520:S1178C	S	+	2	0	DHX9	181122912	0.113000	0.22115	0.110000	0.21437	0.382000	0.30200	1.132000	0.31418	1.644000	0.50603	0.561000	0.74099	TCT		0.532	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		6	131	0	0	0	1	0	6	131				
ZNF441	126068	broad.mit.edu	37	19	11891591	11891591	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:11891591C>T	ENST00000357901.4	+	4	1054	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	ZNF441_ENST00000454339.2_Missense_Mutation_p.L251F	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	318					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)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAAGGCTTTCTTTCTCCCAG	0.398																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(952-954)Ctt>Ttt		zinc finger protein 441							87.0	88.0	87.0					19																	11891591		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891591C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.952C>T	19.37:g.11891591C>T	ENSP00000350576:p.Leu318Phe					ZNF441_ENST00000454339.2_Missense_Mutation_p.L251F	p.L318F	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	1054	+			318						Missense_Mutation	SNP	ENST00000357901.4	37	c.952C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	11.60	1.688376	0.29962	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07800	3.16;3.16	0.998	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.17800	0.525	0.09310	N	1	P	0.41008	0.735	B	0.29440	0.102	T	0.33007	-0.9885	9	0.31617	T	0.26	.	2.182	0.03877	0.1611:0.2356:0.4512:0.1521	.	318	Q8N8Z8	ZN441_HUMAN	F	274;318;251	ENSP00000350576:L318F;ENSP00000403738:L251F	ENSP00000350576:L318F	L	+	1	0	ZNF441	11752591	0.110000	0.22057	0.000000	0.03702	0.954000	0.61252	-0.096000	0.11059	-1.487000	0.01849	0.298000	0.19748	CTT		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		6	169	0	0	0	1	0	6	169				
SLC15A2	6565	broad.mit.edu	37	3	121647331	121647331	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:121647331G>A	ENST00000489711.1	+	15	1658	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.D393N	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	424					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCTGGCAGATGATGAGGTGAA	0.448																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1270-1272)Gat>Aat		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						196.0	201.0	199.0					3																	121647331		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121647331G>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1270G>A	3.37:g.121647331G>A	ENSP00000417085:p.Asp424Asn					SLC15A2_ENST00000295605.2_Missense_Mutation_p.D393N|SLC15A2_ENST00000465060.1_3'UTR	p.D424N	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	15	1658	+			424					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1270G>A	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	5.136	0.210721	0.09757	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.35605	1.3;1.3	5.65	2.87	0.33458	.	0.462021	0.26788	N	0.022492	T	0.18964	0.0455	N	0.16903	0.455	0.25743	N	0.985138	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.004	T	0.19353	-1.0308	10	0.16420	T	0.52	-4.6092	7.9822	0.30190	0.2539:0.0:0.7461:0.0	.	393;424	B4E2A7;Q16348	.;S15A2_HUMAN	N	424;386;393	ENSP00000417085:D424N;ENSP00000295605:D393N	ENSP00000295605:D393N	D	+	1	0	SLC15A2	123130021	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	0.859000	0.27858	0.950000	0.37743	0.655000	0.94253	GAT		0.448	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		13	178	0	0	0	1	0	13	178				
IL17RA	23765	broad.mit.edu	37	22	17589873	17589873	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:17589873G>A	ENST00000319363.6	+	13	1897	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	588					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCGAATGTGAGAACCTCTACT	0.667																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1762-1764)gaG>gaA		interleukin 17 receptor A							16.0	16.0	16.0					22																	17589873		2200	4296	6496	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589873G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1764G>A	22.37:g.17589873G>A							p.E588E	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1897	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	588					O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.1764G>A	CCDS13739.1																																																																																				0.667	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		4	22	0	0	0	1	0	4	22				
PEG3	5178	broad.mit.edu	37	19	57327616	57327616	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:57327616G>C	ENST00000326441.9	-	10	2557	c.2194C>G	c.(2194-2196)Cag>Gag	p.Q732E	PEG3_ENST00000598410.1_Missense_Mutation_p.Q608E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q606E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q732E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	732					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGACTCTTCTGAGATTCAGTG	0.418																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2194-2196)Cag>Gag		paternally expressed 3							110.0	105.0	106.0					19																	57327616		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327616G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2194C>G	19.37:g.57327616G>C	ENSP00000326581:p.Gln732Glu					PEG3_ENST00000423103.2_Missense_Mutation_p.Q732E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q606E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q608E	p.Q732E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2557	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	732					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2194C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441645	0.63067	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.16073	2.37;2.37	4.05	4.05	0.47172	.	0.160723	0.29932	N	0.010837	T	0.42966	0.1226	M	0.92077	3.27	.	.	.	D;D;D	0.58268	0.978;0.961;0.982	P;P;P	0.54346	0.714;0.658;0.749	T	0.64643	-0.6359	9	0.54805	T	0.06	-31.2001	14.5099	0.67776	0.0:0.0:1.0:0.0	.	608;732;667	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	E	732	ENSP00000326581:Q732E;ENSP00000403051:Q732E	ENSP00000326581:Q732E	Q	-	1	0	ZIM2	62019428	0.090000	0.21635	0.999000	0.59377	0.973000	0.67179	1.537000	0.36083	2.548000	0.85928	0.585000	0.79938	CAG		0.418	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			9	164	0	0	0	1	0	9	164				
ANK1	286	broad.mit.edu	37	8	41559121	41559121	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:41559121C>G	ENST00000347528.4	-	22	2491	c.2408G>C	c.(2407-2409)cGa>cCa	p.R803P	ANK1_ENST00000265709.8_Missense_Mutation_p.R836P|ANK1_ENST00000379758.2_Missense_Mutation_p.R803P|ANK1_ENST00000396942.1_Missense_Mutation_p.R803P|ANK1_ENST00000352337.4_Missense_Mutation_p.R803P|ANK1_ENST00000396945.1_Missense_Mutation_p.R803P|ANK1_ENST00000289734.7_Missense_Mutation_p.R803P	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	803	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R803Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAACTCATTCGATGCTTATC	0.488											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			1	Substitution - Missense(1)	p.R803Q(1)	large_intestine(1)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2407-2409)cGa>cCa		ankyrin 1, erythrocytic							120.0	110.0	113.0					8																	41559121		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41559121C>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2408G>C	8.37:g.41559121C>G	ENSP00000339620:p.Arg803Pro		OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000379758.2_Missense_Mutation_p.R803P|ANK1_ENST00000347528.4_Missense_Mutation_p.R803P|ANK1_ENST00000396945.1_Missense_Mutation_p.R803P|ANK1_ENST00000265709.8_Missense_Mutation_p.R836P|ANK1_ENST00000289734.7_Missense_Mutation_p.R803P|ANK1_ENST00000352337.4_Missense_Mutation_p.R803P	p.R803P			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		22	2491	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	803			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2408G>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852147	0.71719	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.97	5.07	0.68467	Ankyrin repeat-containing domain (1);	0.060741	0.64402	D	0.000003	T	0.42854	0.1221	M	0.81239	2.535	0.80722	D	1	D;D;B;D;D;D	0.67145	0.976;0.996;0.003;0.993;0.959;0.988	P;P;B;P;P;P	0.62298	0.9;0.814;0.005;0.796;0.9;0.791	T	0.47711	-0.9096	10	0.59425	D	0.04	.	16.5849	0.84725	0.1392:0.8608:0.0:0.0	.	836;803;803;803;803;111	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	P	803;803;803;803;803;803;836;803	ENSP00000339620:R803P;ENSP00000289734:R803P;ENSP00000369082:R803P;ENSP00000380149:R803P;ENSP00000380147:R803P;ENSP00000309131:R803P;ENSP00000265709:R836P	ENSP00000265709:R836P	R	-	2	0	ANK1	41678278	0.999000	0.42202	0.997000	0.53966	0.735000	0.41995	2.165000	0.42396	1.454000	0.47793	0.655000	0.94253	CGA		0.488	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	83	0	0	0	1	0	4	83				
ZFC3H1	196441	broad.mit.edu	37	12	72057343	72057343	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:72057343C>T	ENST00000378743.3	-	1	406	c.48G>A	c.(46-48)ccG>ccA	p.P16P	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P16P|ZFC3H1_ENST00000552037.1_Silent_p.P16P|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000549407.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	16					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTCTTCCTTCGGCGAGAGGC	0.647											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(46-48)ccG>ccA		zinc finger, C3H1-type containing							84.0	96.0	92.0					12																	72057343		2025	4199	6224	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057343C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.48G>A	12.37:g.72057343C>T			OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000548100.1_Silent_p.P16P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P16P	p.P16P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	406	-			16					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.48G>A	CCDS41813.1																																																																																				0.647	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		12	189	0	0	0	1	0	12	189				
DLL3	10683	broad.mit.edu	37	19	39998560	39998560	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:39998560G>A	ENST00000205143.4	+	8	1771	c.1764G>A	c.(1762-1764)gcG>gcA	p.A588A	DLL3_ENST00000356433.5_Intron	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	588					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGAGGTAGCGACGCCCCTTT	0.562																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(1762-1764)gcG>gcA		delta-like 3 (Drosophila)							74.0	61.0	65.0					19																	39998560		2203	4300	6503	SO:0001819	synonymous_variant	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39998560G>A	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.1764G>A	19.37:g.39998560G>A						DLL3_ENST00000356433.5_Intron	p.A588A	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		8	1771	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		588					E9PFG2|Q8NBS4	Silent	SNP	ENST00000205143.4	37	c.1764G>A	CCDS12538.1																																																																																				0.562	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			4	53	0	0	0	1	0	4	53				
BNIP3L	665	broad.mit.edu	37	8	26237440	26237440	+	5'Flank	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:26237440C>T	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CATTCGCCATCGGCATCCTCC	0.473																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	157489							g.chr8:26237440C>T	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237440C>T	Exception_encountered													0	2508	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.473	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		5	125	0	0	0	1	0	5	125				
KDM2B	84678	broad.mit.edu	37	12	121881866	121881866	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:121881866C>T	ENST00000377071.4	-	16	2472	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.L168L|KDM2B_ENST00000377069.4_Silent_p.L769L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	800					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCTTCTTCCTCAGGTGCACGT	0.647											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2305-2307)ctG>ctA		lysine (K)-specific demethylase 2B							75.0	81.0	79.0					12																	121881866		2037	4176	6213	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121881866C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2400G>A	12.37:g.121881866C>T			OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_ENST00000542973.1_Silent_p.L168L|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.L800L	p.L769L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			16	2713	-			800					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2307G>A	CCDS41850.1																																																																																				0.647	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		7	106	0	0	0	1	0	7	106				
SLCO3A1	28232	broad.mit.edu	37	15	92647588	92647588	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:92647588C>T	ENST00000318445.6	+	4	1039	c.825C>T	c.(823-825)ctC>ctT	p.L275L	SLCO3A1_ENST00000424469.2_Silent_p.L275L|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	275					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GTGCCTTACTCTTCTTCTCTT	0.577																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(823-825)ctC>ctT		solute carrier organic anion transporter family, member 3A1							221.0	189.0	200.0					15																	92647588		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92647588C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.825C>T	15.37:g.92647588C>T						SLCO3A1_ENST00000424469.2_Silent_p.L275L|SLCO3A1_ENST00000555549.1_3'UTR	p.L275L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		4	1039	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		275					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.825C>T	CCDS10371.1																																																																																				0.577	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		6	132	0	0	0	1	0	6	132				
PITRM1	10531	broad.mit.edu	37	10	3180435	3180435	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:3180435C>T	ENST00000224949.4	-	26	3046	c.3012G>A	c.(3010-3012)gtG>gtA	p.V1004V	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Silent_p.V562V|PITRM1_ENST00000451104.2_Silent_p.V906V|PITRM1_ENST00000380989.2_Silent_p.V1005V			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1004					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACCTATCGCTCACGGCCAGGA	0.592																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(3013-3015)gtG>gtA		pitrilysin metallopeptidase 1							46.0	52.0	50.0					10																	3180435		2122	4253	6375	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3180435C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3012G>A	10.37:g.3180435C>T						PITRM1_ENST00000380994.1_Silent_p.V562V|PITRM1_ENST00000451104.2_Silent_p.V906V|PITRM1_ENST00000224949.4_Silent_p.V1004V|PITRM1_ENST00000464395.1_5'UTR	p.V1005V	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			26	3053	-			906					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.3015G>A	CCDS59208.1																																																																																				0.592	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			4	47	0	0	0	1	0	4	47				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100308	27100308	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:27100308G>C	ENST00000607124.1	-	1	221	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.I74M|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.I74M|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CCTCACCTGCGATGCGCTCGA	0.582																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(220-222)atC>atG		histone cluster 1, H2bj							141.0	134.0	137.0					6																	27100308		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100308G>C	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.222C>G	6.37:g.27100308G>C	ENSP00000476136:p.Ile74Met					HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.I74M|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.I74M	p.I74M			P06899	H2B1J_HUMAN			1	221	-			74					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.222C>G	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	g	12.09	1.833419	0.32421	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.46063	0.88;0.88	4.17	0.0328	0.14177	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.56746	0.2006	M	0.90425	3.115	0.47511	D	0.999446	D	0.71674	0.998	D	0.73708	0.981	T	0.65290	-0.6204	9	0.87932	D	0	.	10.9596	0.47376	0.2523:0.0:0.7477:0.0	.	74	P06899	H2B1J_HUMAN	M	74	ENSP00000445633:I74M;ENSP00000342886:I74M	ENSP00000342886:I74M	I	-	3	3	HIST1H2BJ	27208287	1.000000	0.71417	0.990000	0.47175	0.010000	0.07245	2.119000	0.41958	-0.085000	0.12573	-2.186000	0.00314	ATC		0.582	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		5	196	0	0	0	1	0	5	196				
MMP8	4317	broad.mit.edu	37	11	102592156	102592156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:102592156C>T	ENST00000236826.3	-	4	696	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	200					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GTCCATGTTTCTTCGGCATCA	0.433																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(598-600)Gaa>Aaa		matrix metallopeptidase 8 (neutrophil collagenase)							158.0	137.0	144.0					11																	102592156		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102592156C>T	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.598G>A	11.37:g.102592156C>T	ENSP00000236826:p.Glu200Lys						p.E200K	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	4	696	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	200					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.598G>A	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.062647|5.062647	0.93898|0.93898	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942|ENST00000438475	T|.	0.30714|.	1.52|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);|.	0.000000|.	0.64402|.	D|.	0.000009|.	D|D	0.85022|0.85022	0.5602|0.5602	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.97110|.	1.0;0.976;0.998|.	D|D	0.86327|0.86327	0.1696|0.1696	10|5	0.66056|.	D|.	0.02|.	.|.	19.9598|19.9598	0.97242|0.97242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	200;135;200|.	A8K9E4;F5GXB5;P22894|.	.;.;MMP8_HUMAN|.	K|K	200;177;135|175	ENSP00000236826:E200K|.	ENSP00000236826:E200K|.	E|R	-|-	1|2	0|0	MMP8|MMP8	102097366|102097366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.479000|0.479000	0.33129|0.33129	5.676000|5.676000	0.68131|0.68131	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.433	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		6	111	0	0	0	1	0	6	111				
CUL1	8454	broad.mit.edu	37	7	148457442	148457442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:148457442G>A	ENST00000325222.4	+	7	922	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CUL1_ENST00000409469.1_Missense_Mutation_p.E215K|CUL1_ENST00000602748.1_Missense_Mutation_p.E215K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	215					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGGCTGAATGAAGATGATGC	0.348																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(643-645)Gaa>Aaa		cullin 1							114.0	129.0	124.0					7																	148457442		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457442G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.643G>A	7.37:g.148457442G>A	ENSP00000326804:p.Glu215Lys					CUL1_ENST00000409469.1_Missense_Mutation_p.E215K|CUL1_ENST00000602748.1_Missense_Mutation_p.E215K	p.E215K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	922	+	Melanoma(164;0.15)		215					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.643G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061684	0.93846	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.30714	1.52;1.52	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	M	0.69463	2.115	0.80722	D	1	P	0.49358	0.923	P	0.54544	0.755	T	0.48927	-0.8991	10	0.51188	T	0.08	-13.9834	17.2933	0.87163	0.0:0.0:1.0:0.0	.	215	Q13616	CUL1_HUMAN	K	215;215;173;142	ENSP00000387160:E215K;ENSP00000326804:E215K	ENSP00000326804:E215K	E	+	1	0	CUL1	148088375	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.993000	0.93524	2.377000	0.81083	0.585000	0.79938	GAA		0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		27	111	0	0	0	1	0	27	111				
TANC1	85461	broad.mit.edu	37	2	160085351	160085351	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:160085351G>C	ENST00000263635.6	+	26	4332	c.4095G>C	c.(4093-4095)ttG>ttC	p.L1365F	TANC1_ENST00000454300.1_Missense_Mutation_p.L1259F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1365					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTCTCGAATTGAAGCCCAAGT	0.468																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4093-4095)ttG>ttC		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							167.0	165.0	166.0					2																	160085351		1939	4134	6073	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160085351G>C	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4095G>C	2.37:g.160085351G>C	ENSP00000263635:p.Leu1365Phe					TANC1_ENST00000454300.1_Missense_Mutation_p.L1259F	p.L1365F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			26	4332	+			1365					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.4095G>C	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941555	0.73557	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.68479	-0.33;-0.33	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.150276	0.45361	D	0.000370	T	0.80696	0.4672	M	0.80616	2.505	0.53688	D	0.999978	P;D	0.89917	0.83;1.0	P;D	0.83275	0.663;0.996	T	0.81504	-0.0903	9	.	.	.	.	10.9262	0.47191	0.0729:0.1315:0.7956:0.0	.	1357;1365	B9EK39;Q9C0D5	.;TANC1_HUMAN	F	1259;1365	ENSP00000396339:L1259F;ENSP00000263635:L1365F	.	L	+	3	2	TANC1	159793597	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	5.506000	0.66993	2.623000	0.88846	0.655000	0.94253	TTG		0.468	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			17	249	0	0	0	1	0	17	249				
STXBP5L	9515	broad.mit.edu	37	3	120976074	120976074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:120976074C>T	ENST00000273666.6	+	17	1997	c.1726C>T	c.(1726-1728)Ccg>Tcg	p.P576S	STXBP5L_ENST00000497029.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P576S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	576					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AACAAGTCCTCCGTTTCCAGA	0.388																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1726-1728)Ccg>Tcg		syntaxin binding protein 5-like							122.0	119.0	120.0					3																	120976074		1845	4086	5931	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976074C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1726C>T	3.37:g.120976074C>T	ENSP00000273666:p.Pro576Ser					STXBP5L_ENST00000472879.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P576S	p.P576S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	1997	+			576					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1726C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368650	0.42003	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.37752	1.9;1.91;1.69;1.18;1.69;1.92	5.49	4.6	0.57074	WD40 repeat-like-containing domain (1);	0.258368	0.39475	N	0.001354	T	0.35278	0.0926	L	0.50333	1.59	0.44261	D	0.997116	B;B	0.15473	0.007;0.013	B;B	0.09377	0.004;0.004	T	0.09818	-1.0657	10	0.37606	T	0.19	-15.969	16.4821	0.84160	0.0:0.8687:0.1313:0.0	.	576;576	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	576	ENSP00000273666:P576S;ENSP00000420019:P576S;ENSP00000419627:P576S;ENSP00000420287:P576S;ENSP00000420666:P576S;ENSP00000420167:P576S	ENSP00000273666:P576S	P	+	1	0	STXBP5L	122458764	0.998000	0.40836	0.995000	0.50966	0.967000	0.64934	1.372000	0.34261	1.398000	0.46701	0.585000	0.79938	CCG		0.388	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			7	195	0	0	0	1	0	7	195				
NABP2	79035	broad.mit.edu	37	12	56619246	56619246	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:56619246G>A	ENST00000380198.2	+	2	667	c.169G>A	c.(169-171)Gat>Aat	p.D57N	NABP2_ENST00000341463.5_Missense_Mutation_p.D57N|NABP2_ENST00000267023.4_Missense_Mutation_p.D57N			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	57					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TGTCTGGGACGATGTTGGCAA	0.527																																						ENST00000380198.2																			0											c.(169-171)Gat>Aat		nucleic acid binding protein 2							177.0	150.0	160.0					12																	56619246		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56619246G>A	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.169G>A	12.37:g.56619246G>A	ENSP00000369545:p.Asp57Asn					NABP2_ENST00000341463.5_Missense_Mutation_p.D57N|NABP2_ENST00000267023.4_Missense_Mutation_p.D57N	p.D57N							2	667	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.169G>A	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093164	0.94149	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.59	4.59	0.56863	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.071084	0.52532	D	0.000066	T	0.41396	0.1157	L	0.39326	1.205	0.58432	D	0.999992	P;P;P	0.47484	0.896;0.896;0.896	P;P;P	0.54270	0.512;0.747;0.584	T	0.37549	-0.9701	10	0.87932	D	0	5.5496	16.6164	0.84917	0.0:0.0:1.0:0.0	.	57;57;57	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	N	57	ENSP00000413902:D57N;ENSP00000408616:D57N;ENSP00000267023:D57N;ENSP00000369545:D57N;ENSP00000368862:D57N	ENSP00000267023:D57N	D	+	1	0	OBFC2B	54905513	1.000000	0.71417	0.968000	0.41197	0.802000	0.45316	9.536000	0.98067	2.283000	0.76528	0.456000	0.33151	GAT		0.527	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		8	121	0	0	0	1	0	8	121				
KRT9	3857	broad.mit.edu	37	17	39724518	39724518	+	Silent	SNP	G	G	A	rs145501803	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:39724518G>A	ENST00000246662.4	-	6	1355	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	KRT9_ENST00000588431.1_Silent_p.I197I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	430	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCTGGCACTCGATCTCTTGCC	0.542																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1288-1290)atC>atT		keratin 9		G		5,4401	9.9+/-24.2	0,5,2198	147.0	134.0	139.0		1290	-9.9	0.0	17	dbSNP_134	139	21,8579	15.3+/-51.7	0,21,4279	no	coding-synonymous	KRT9	NM_000226.3		0,26,6477	AA,AG,GG		0.2442,0.1135,0.1999		430/624	39724518	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724518G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1290C>T	17.37:g.39724518G>A						KRT9_ENST00000588431.1_Silent_p.I197I	p.I430I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			6	1355	-		Breast(137;0.000307)	430			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	c.1290C>T	CCDS32654.1																																																																																				0.542	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		5	91	0	0	0	1	0	5	91				
AKAP9	10142	broad.mit.edu	37	7	91682117	91682117	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:91682117G>C	ENST00000359028.2	+	23	5707	c.5482G>C	c.(5482-5484)Gag>Cag	p.E1828Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1816Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1828Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1828					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGTAACTGAGGAAGGAAC	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5482-5484)Gag>Cag		A kinase (PRKA) anchor protein 9							121.0	106.0	111.0					7																	91682117		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91682117G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5482G>C	7.37:g.91682117G>C	ENSP00000351922:p.Glu1828Gln					AKAP9_ENST00000358100.2_Missense_Mutation_p.E1828Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1816Q	p.E1828Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		23	5707	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1828					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5482G>C		.	.	.	.	.	.	.	.	.	.	G	18.32	3.597911	0.66332	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03801	3.8;3.81;3.8	5.52	5.52	0.82312	.	0.000000	0.42172	D	0.000758	T	0.19127	0.0459	M	0.71581	2.175	0.44241	D	0.997085	D;D;D	0.61080	0.981;0.989;0.989	P;P;P	0.58266	0.69;0.836;0.836	T	0.00033	-1.2270	10	0.59425	D	0.04	.	19.7943	0.96472	0.0:0.0:1.0:0.0	.	1828;1816;1816	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Q	1816;1828;1828;1828	ENSP00000348573:E1816Q;ENSP00000351922:E1828Q;ENSP00000350813:E1828Q	ENSP00000348573:E1816Q	E	+	1	0	AKAP9	91520053	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.506000	0.81665	2.755000	0.94549	0.591000	0.81541	GAG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		4	65	0	0	0	1	0	4	65				
SPATA22	84690	broad.mit.edu	37	17	3346491	3346491	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:3346491G>C	ENST00000573128.1	-	8	1360	c.877C>G	c.(877-879)Ctg>Gtg	p.L293V	SPATA22_ENST00000575375.1_Missense_Mutation_p.L293V|SPATA22_ENST00000572969.1_Missense_Mutation_p.L293V|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000541913.1_Missense_Mutation_p.L277V|SPATA22_ENST00000397168.3_Missense_Mutation_p.L293V|SPATA22_ENST00000355380.4_Missense_Mutation_p.L250V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	293					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ACACAAGGCAGAGTATTTTTC	0.358																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(877-879)Ctg>Gtg		spermatogenesis associated 22							65.0	59.0	61.0					17																	3346491		2202	4298	6500	SO:0001583	missense	84690							g.chr17:3346491G>C	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.877C>G	17.37:g.3346491G>C	ENSP00000459580:p.Leu293Val					SPATA22_ENST00000575375.1_Missense_Mutation_p.L293V|SPATA22_ENST00000572969.1_Missense_Mutation_p.L293V|SPATA22_ENST00000397168.3_Missense_Mutation_p.L293V|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000355380.4_Missense_Mutation_p.L250V|SPATA22_ENST00000541913.1_Missense_Mutation_p.L277V	p.L293V			Q8NHS9	SPT22_HUMAN			8	1360	-			293					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.877C>G	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249121	0.39797	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.81078	-1.45;-1.45;-1.45	5.32	0.292	0.15737	.	0.116126	0.35495	N	0.003176	T	0.75598	0.3871	N	0.14661	0.345	0.27300	N	0.957607	P;D;D	0.71674	0.873;0.971;0.998	B;P;D	0.83275	0.391;0.735;0.996	T	0.66618	-0.5878	10	0.27082	T	0.32	-5.7674	7.5749	0.27931	0.1836:0.2129:0.6034:0.0	.	277;250;293	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	V	250;293;277	ENSP00000347541:L250V;ENSP00000380354:L293V;ENSP00000441920:L277V	ENSP00000347541:L250V	L	-	1	2	SPATA22	3293241	0.996000	0.38824	0.973000	0.42090	0.937000	0.57800	0.473000	0.22132	0.272000	0.22027	0.557000	0.71058	CTG		0.358	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		6	57	0	0	0	1	0	6	57				
CD2BP2	10421	broad.mit.edu	37	16	30364372	30364372	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:30364372C>T	ENST00000305596.3	-	7	1135	c.960G>A	c.(958-960)cgG>cgA	p.R320R	CD2BP2_ENST00000569466.1_Silent_p.R320R|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	320	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GGTCCAGCTTCCGGCAATAAA	0.587																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(958-960)cgG>cgA		CD2 (cytoplasmic tail) binding protein 2							43.0	42.0	43.0					16																	30364372		2197	4300	6497	SO:0001819	synonymous_variant	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364372C>T	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.960G>A	16.37:g.30364372C>T						CD2BP2_ENST00000569466.1_Silent_p.R320R	p.R320R	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			7	1135	-			320			GYF.		B2RDX2|Q9ULP2	Silent	SNP	ENST00000305596.3	37	c.960G>A	CCDS10675.1																																																																																				0.587	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		4	51	0	0	0	1	0	4	51				
PPARGC1A	10891	broad.mit.edu	37	4	23886407	23886407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:23886407G>A	ENST00000264867.2	-	2	321	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	PPARGC1A_ENST00000509702.1_5'Flank|PPARGC1A_ENST00000507380.1_Nonsense_Mutation_p.Q68*	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	68					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGTTGTACTGATTGGATATT	0.393																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(202-204)Cag>Tag		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							133.0	123.0	126.0					4																	23886407		2203	4300	6503	SO:0001587	stop_gained	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23886407G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.202C>T	4.37:g.23886407G>A	ENSP00000264867:p.Gln68*					PPARGC1A_ENST00000507380.1_Nonsense_Mutation_p.Q68*	p.Q68*	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			2	321	-		Breast(46;0.0503)	68					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Nonsense_Mutation	SNP	ENST00000264867.2	37	c.202C>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	37	6.293304	0.97449	.	.	ENSG00000109819	ENST00000264867;ENST00000507380	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.7944	20.3854	0.98941	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000264867:Q68X	Q	-	1	0	PPARGC1A	23495505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.825000	0.97269	0.655000	0.94253	CAG		0.393	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		6	91	0	0	0	1	0	6	91				
ABCB4	5244	broad.mit.edu	37	7	87072740	87072740	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:87072740C>T	ENST00000265723.4	-	12	1362	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L	ABCB4_ENST00000359206.3_Silent_p.L417L|ABCB4_ENST00000545634.1_Silent_p.L417L|ABCB4_ENST00000453593.1_Silent_p.L417L|ABCB4_ENST00000358400.3_Silent_p.L417L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	417	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCTGCACCTTCAGGTTGAGGC	0.473																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1249-1251)ctG>ctA		ATP-binding cassette, sub-family B (MDR/TAP), member 4							100.0	91.0	94.0					7																	87072740		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87072740C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1251G>A	7.37:g.87072740C>T						ABCB4_ENST00000358400.3_Silent_p.L417L|ABCB4_ENST00000359206.3_Silent_p.L417L|ABCB4_ENST00000545634.1_Silent_p.L417L|ABCB4_ENST00000453593.1_Silent_p.L417L	p.L417L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			12	1362	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		417			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.1251G>A	CCDS5606.1																																																																																				0.473	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		9	157	0	0	0	1	0	9	157				
JAK1	3716	broad.mit.edu	37	1	65349056	65349056	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:65349056C>T	ENST00000342505.4	-	3	357	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	37	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAGATCACTTCCACCCCTGGC	0.547			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(109-111)Gaa>Aaa		Janus kinase 1							92.0	92.0	92.0					1																	65349056		1914	4123	6037	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65349056C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.109G>A	1.37:g.65349056C>T	ENSP00000343204:p.Glu37Lys						p.E37K	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	3	357	-			37			FERM.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.109G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341095	0.60963	.	.	ENSG00000162434	ENST00000342505	T	0.75050	-0.9	4.61	4.61	0.57282	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.70281	0.3206	L	0.38953	1.18	0.47778	D	0.999518	D	0.69078	0.997	D	0.75020	0.985	T	0.65676	-0.6110	9	0.09084	T	0.74	.	16.1803	0.81892	0.0:1.0:0.0:0.0	.	37	P23458	JAK1_HUMAN	K	37	ENSP00000343204:E37K	ENSP00000343204:E37K	E	-	1	0	JAK1	65121644	1.000000	0.71417	0.991000	0.47740	0.295000	0.27426	3.892000	0.56235	2.561000	0.86390	0.655000	0.94253	GAA		0.547	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		8	79	0	0	0	1	0	8	79				
FRYL	285527	broad.mit.edu	37	4	48578166	48578166	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:48578166G>A	ENST00000503238.1	-	21	2601	c.2602C>T	c.(2602-2604)Ctg>Ttg	p.L868L	FRYL_ENST00000537810.1_Silent_p.L868L|FRYL_ENST00000507711.1_Silent_p.L868L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.L868L|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	868					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAGGATCAGATAGTTTCTC	0.463																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2602-2604)Ctg>Ttg		FRY-like							118.0	120.0	119.0					4																	48578166		1934	4147	6081	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48578166G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2602C>T	4.37:g.48578166G>A						FRYL_ENST00000507711.1_Silent_p.L868L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.L868L|FRYL_ENST00000503238.1_Silent_p.L868L	p.L868L	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			24	3206	-			868					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.2602C>T	CCDS43227.1																																																																																				0.463	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			8	94	0	0	0	1	0	8	94				
BEND5	79656	broad.mit.edu	37	1	49193586	49193586	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:49193586C>T	ENST00000371833.3	-	6	1324	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	413						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TGCTTCCCTTCGTTCTTCATT	0.373																																						ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(1237-1239)cGa>cAa		BEN domain containing 5							191.0	182.0	185.0					1																	49193586		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49193586C>T	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1238G>A	1.37:g.49193586C>T	ENSP00000360899:p.Arg413Gln					BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	p.R413Q	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			6	1324	-			413					D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.1238G>A	CCDS552.2	.	.	.	.	.	.	.	.	.	.	C	35	5.430857	0.96150	.	.	ENSG00000162373	ENST00000371833;ENST00000294347	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.14661	0.345	0.58432	D	0.999995	D	0.71674	0.998	D	0.79108	0.992	T	0.60581	-0.7235	8	.	.	.	-5.7459	19.1348	0.93422	0.0:1.0:0.0:0.0	.	413	Q7L4P6	BEND5_HUMAN	Q	413;125	.	.	R	-	2	0	BEND5	48966173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.779000	0.95612	0.591000	0.81541	CGA		0.373	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		6	84	0	0	0	1	0	6	84				
SEMA5A	9037	broad.mit.edu	37	5	9052003	9052003	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:9052003C>G	ENST00000382496.5	-	20	3492	c.2827G>C	c.(2827-2829)Gac>Cac	p.D943H	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	943	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAATTAGAGTCAAACACACAC	0.502																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2827-2829)Gac>Cac		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							53.0	55.0	54.0					5																	9052003		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052003C>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2827G>C	5.37:g.9052003C>G	ENSP00000371936:p.Asp943His						p.D943H	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			20	3492	-			943			TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2827G>C	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789352	0.31685	.	.	ENSG00000112902	ENST00000382496	T	0.36520	1.25	5.12	5.12	0.69794	.	0.310851	0.33631	N	0.004712	T	0.28267	0.0698	L	0.33339	1.005	0.37585	D	0.919956	B	0.10296	0.003	B	0.18561	0.022	T	0.18053	-1.0349	10	0.72032	D	0.01	.	9.9624	0.41704	0.0:0.9073:0.0:0.0927	.	943	Q13591	SEM5A_HUMAN	H	943	ENSP00000371936:D943H	ENSP00000371936:D943H	D	-	1	0	SEMA5A	9105003	0.970000	0.33590	0.933000	0.37362	0.695000	0.40330	2.296000	0.43584	2.540000	0.85666	0.655000	0.94253	GAC		0.502	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			4	76	0	0	0	1	0	4	76				
ADRA1D	146	broad.mit.edu	37	20	4202277	4202277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:4202277C>T	ENST00000379453.4	-	2	1728	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	538				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCCTCCACCTCTGAGCGCTGG	0.697																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1612-1614)Gag>Aag		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						21.0	24.0	23.0					20																	4202277		2200	4288	6488	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202277C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1612G>A	20.37:g.4202277C>T	ENSP00000368766:p.Glu538Lys						p.E538K	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1728	-			538	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1612G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773623	0.69992	.	.	ENSG00000171873	ENST00000379453	T	0.61859	0.07	3.48	3.48	0.39840	.	289.624000	0.00166	U	0.000005	T	0.59609	0.2206	L	0.56769	1.78	0.24831	N	0.992529	B	0.30439	0.279	B	0.27608	0.081	T	0.53085	-0.8488	10	0.52906	T	0.07	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	538	P25100	ADA1D_HUMAN	K	538	ENSP00000368766:E538K	ENSP00000368766:E538K	E	-	1	0	ADRA1D	4150277	1.000000	0.71417	0.902000	0.35471	0.618000	0.37518	5.166000	0.64965	1.893000	0.54813	0.305000	0.20034	GAG		0.697	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		4	68	0	0	0	1	0	4	68				
MRPL12	6182	broad.mit.edu	37	17	79674211	79674211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:79674211G>A	ENST00000333676.3	+	5	683	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SLC25A10_ENST00000571730.1_Missense_Mutation_p.E180K|SLC25A10_ENST00000541223.1_Missense_Mutation_p.E180K	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	180					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CGCCAAAGCTGAGGCGGAGAA	0.642																																						ENST00000571730.1																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(538-540)Gag>Aag		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						95.0	105.0	101.0					17																	79674211		2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79674211G>A	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.538G>A	17.37:g.79674211G>A	ENSP00000333837:p.Glu180Lys					SLC25A10_ENST00000541223.1_Missense_Mutation_p.E180K|MRPL12_ENST00000333676.3_Missense_Mutation_p.E180K	p.E180K			Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		5	669	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	ENST00000333676.3	37	c.538G>A	CCDS11785.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432454	0.83776	.	.	ENSG00000183048	ENST00000541223;ENST00000333676	D;T	0.83075	-1.68;0.24	4.61	2.6	0.31112	Ribosomal protein L7/L12, C-terminal (2);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.097835	0.64402	N	0.000002	D	0.91566	0.7336	M	0.92169	3.28	0.80722	D	1	B;D	0.64830	0.107;0.994	B;D	0.74023	0.13;0.982	D	0.90951	0.4805	10	0.62326	D	0.03	-1.6751	9.8793	0.41222	0.0762:0.1397:0.7841:0.0	.	180;180	B4DLN1;P52815	.;RM12_HUMAN	K	180	ENSP00000439565:E180K;ENSP00000333837:E180K	ENSP00000333837:E180K	E	+	1	0	SLC25A10	77284616	1.000000	0.71417	0.446000	0.26920	0.772000	0.43724	7.454000	0.80714	0.558000	0.29135	0.650000	0.86243	GAG		0.642	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	NM_002949		6	114	0	0	0	1	0	6	114				
AMBRA1	55626	broad.mit.edu	37	11	46568686	46568686	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:46568686C>T	ENST00000458649.2	-	4	773	c.355G>A	c.(355-357)Gag>Aag	p.E119K	AMBRA1_ENST00000528950.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E119K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E119K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E119K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	119					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)		ATCCTAACCTCCCCATCTAGG	0.448																																						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.(355-357)Gag>Aag		autophagy/beclin-1 regulator 1							127.0	112.0	117.0					11																	46568686		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46568686C>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.355G>A	11.37:g.46568686C>T	ENSP00000415327:p.Glu119Lys					AMBRA1_ENST00000314845.3_Missense_Mutation_p.E119K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E119K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E119K	p.E119K			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	4	773	-			119					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.355G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.449162	0.84101	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	N	0.03891	-0.335	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.996;0.998;0.996	D;D;D;D;D;D	0.81914	0.995;0.994;0.994;0.987;0.991;0.987	T	0.70360	-0.4893	10	0.59425	D	0.04	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	119;119;119;119;119;119	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	K	119	ENSP00000318313:E119K;ENSP00000433372:E119K;ENSP00000431926:E119K;ENSP00000410899:E119K;ENSP00000298834:E119K;ENSP00000415327:E119K;ENSP00000433945:E119K	ENSP00000298834:E119K	E	-	1	0	AMBRA1	46525262	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.467000	0.80930	2.727000	0.93392	0.655000	0.94253	GAG		0.448	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		8	140	0	0	0	1	0	8	140				
SAYSD1	55776	broad.mit.edu	37	6	39073331	39073331	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:39073331C>G	ENST00000229903.4	-	2	528	c.429G>C	c.(427-429)gaG>gaC	p.E143D	SAYSD1_ENST00000373249.1_Missense_Mutation_p.E76D	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	143						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)											CCTCTTTCTTCTCTTCAGGGC	0.532																																						ENST00000229903.4																			0											c.(427-429)gaG>gaC		SAYSVFN motif domain containing 1							170.0	171.0	170.0					6																	39073331		2203	4300	6503	SO:0001583	missense	55776					integral to membrane		g.chr6:39073331C>G	BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 64"""	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.429G>C	6.37:g.39073331C>G	ENSP00000229903:p.Glu143Asp					SAYSD1_ENST00000373249.1_Missense_Mutation_p.E76D	p.E143D	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN			2	528	-			143					Q9H0D8	Missense_Mutation	SNP	ENST00000229903.4	37	c.429G>C	CCDS4840.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149834	0.57151	.	.	ENSG00000112167	ENST00000373249;ENST00000229903	.	.	.	6.08	3.98	0.46160	Uncharacterised domain SAYSvFN (1);	0.303544	0.36665	N	0.002480	T	0.23926	0.0579	L	0.52905	1.665	0.28918	N	0.892277	B	0.29301	0.241	B	0.33042	0.157	T	0.11792	-1.0573	9	0.19590	T	0.45	-24.9835	11.0153	0.47685	0.0:0.6822:0.2445:0.0733	.	143	Q9NPB0	CF064_HUMAN	D	76;143	.	ENSP00000229903:E143D	E	-	3	2	C6orf64	39181309	0.803000	0.28956	0.954000	0.39281	0.659000	0.38960	-0.128000	0.10531	1.563000	0.49615	0.655000	0.94253	GAG		0.532	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322		25	164	0	0	0	1	0	25	164				
L3MBTL4	91133	broad.mit.edu	37	18	6239847	6239847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:6239847G>A	ENST00000284898.6	-	9	777	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.Q6*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.Q193*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	193					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATTCCAACCTGAAATTCTTTA	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(577-579)Cag>Tag		l(3)mbt-like 4 (Drosophila)							91.0	77.0	82.0					18																	6239847		2203	4300	6503	SO:0001587	stop_gained	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6239847G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.577C>T	18.37:g.6239847G>A	ENSP00000284898:p.Gln193*					L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.Q6*	p.Q193*			Q8NA19	LMBL4_HUMAN			9	777	-		Colorectal(10;0.0249)	193					A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	ENST00000284898.6	37	c.577C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	36	5.817321	0.96982	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	.	.	.	5.31	2.44	0.29823	.	0.190871	0.34750	N	0.003719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.5729	0.68224	0.0:0.4209:0.5791:0.0	.	.	.	.	X	193;193;193;6;193	.	ENSP00000284898:Q193X	Q	-	1	0	L3MBTL4	6229847	0.611000	0.26992	0.497000	0.27552	0.989000	0.77384	1.704000	0.37857	0.215000	0.20761	0.586000	0.80456	CAG		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		4	65	0	0	0	1	0	4	65				
PHLDB1	23187	broad.mit.edu	37	11	118516501	118516501	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:118516501G>A	ENST00000361417.2	+	18	3876	c.3465G>A	c.(3463-3465)ctG>ctA	p.L1155L	PHLDB1_ENST00000527898.1_Silent_p.L206L|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Silent_p.L298L|PHLDB1_ENST00000356063.5_Silent_p.L1108L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1155										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGAAGATGCTGAAAGAGGCTC	0.587																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3463-3465)ctG>ctA		pleckstrin homology-like domain, family B, member 1							214.0	191.0	199.0					11																	118516501		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118516501G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3465G>A	11.37:g.118516501G>A						PHLDB1_ENST00000527898.1_Silent_p.L206L|PHLDB1_ENST00000524713.1_Silent_p.L298L|PHLDB1_ENST00000356063.5_Silent_p.L1108L|PHLDB1_ENST00000534672.1_3'UTR	p.L1155L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	18	3876	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1155					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3465G>A	CCDS8401.1																																																																																				0.587	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		8	140	0	0	0	1	0	8	140				
FBXO5	26271	broad.mit.edu	37	6	153293475	153293475	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:153293475G>C	ENST00000229758.3	-	4	1082	c.1024C>G	c.(1024-1026)Caa>Gaa	p.Q342E	FBXO5_ENST00000367241.3_Missense_Mutation_p.Q296E|FBXO5_ENST00000477822.1_5'UTR	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	342					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AACTTGGTTTGAGCATCTTTT	0.368																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(886-888)Caa>Gaa		F-box protein 5							125.0	121.0	122.0					6																	153293475		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153293475G>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1024C>G	6.37:g.153293475G>C	ENSP00000229758:p.Gln342Glu					FBXO5_ENST00000229758.3_Missense_Mutation_p.Q342E|FBXO5_ENST00000477822.1_5'UTR	p.Q296E	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	4	1266	-		Ovarian(120;0.125)	342			F-box.		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.886C>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161036	0.01673	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.31510	1.49;1.5	5.75	4.86	0.63082	.	1.165630	0.05875	N	0.625438	T	0.15003	0.0362	L	0.59436	1.845	0.09310	N	1	B	0.26672	0.156	B	0.22386	0.039	T	0.32824	-0.9892	10	0.26408	T	0.33	-0.0613	10.8225	0.46612	0.0683:0.2467:0.685:0.0	.	342	Q9UKT4	FBX5_HUMAN	E	342;296	ENSP00000229758:Q342E;ENSP00000356210:Q296E	ENSP00000229758:Q342E	Q	-	1	0	FBXO5	153335168	0.820000	0.29190	0.002000	0.10522	0.129000	0.20672	3.211000	0.51137	1.356000	0.45884	0.655000	0.94253	CAA		0.368	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			5	105	0	0	0	1	0	5	105				
C11orf30	56946	broad.mit.edu	37	11	76237521	76237521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:76237521C>T	ENST00000529032.1	+	12	1837	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	C11orf30_ENST00000525919.1_Nonsense_Mutation_p.Q614*|C11orf30_ENST00000525038.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000524767.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000524490.1_Nonsense_Mutation_p.Q529*|C11orf30_ENST00000533248.1_Nonsense_Mutation_p.Q627*|C11orf30_ENST00000334736.3_Nonsense_Mutation_p.Q613*|C11orf30_ENST00000343878.3_Nonsense_Mutation_p.Q613*			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	613	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAAGACTATTCAGACAGTGCC	0.363																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1837-1839)Cag>Tag		chromosome 11 open reading frame 30							95.0	85.0	89.0					11																	76237521		2200	4292	6492	SO:0001587	stop_gained	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76237521C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1837C>T	11.37:g.76237521C>T	ENSP00000432327:p.Gln613*					C11orf30_ENST00000334736.3_Nonsense_Mutation_p.Q613*|C11orf30_ENST00000343878.3_Nonsense_Mutation_p.Q613*|C11orf30_ENST00000524490.1_Nonsense_Mutation_p.Q529*|C11orf30_ENST00000533248.1_Nonsense_Mutation_p.Q627*|C11orf30_ENST00000525038.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000524767.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000525919.1_Nonsense_Mutation_p.Q614*	p.Q613*			Q7Z589	EMSY_HUMAN			12	1837	+			613			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Nonsense_Mutation	SNP	ENST00000529032.1	37	c.1837C>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	37	6.517765	0.97629	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000524451	.	.	.	5.29	5.29	0.74685	.	0.107670	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.2298	18.9133	0.92494	0.0:1.0:0.0:0.0	.	.	.	.	X	529;613;613;628;627;614;628;613;6	.	ENSP00000334130:Q613X	Q	+	1	0	C11orf30	75915169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	2.477000	0.83638	0.585000	0.79938	CAG		0.363	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		4	73	0	0	0	1	0	4	73				
SNX8	29886	broad.mit.edu	37	7	2290555	2290555	+	IGR	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:2290555G>C	ENST00000222990.3	-	0	4727				NUDT1_ENST00000339737.2_Missense_Mutation_p.K130N|NUDT1_ENST00000343985.4_Missense_Mutation_p.K153N|NUDT1_ENST00000356714.1_Missense_Mutation_p.K130N|NUDT1_ENST00000397048.1_Missense_Mutation_p.K153N|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000397046.1_Missense_Mutation_p.K130N|NUDT1_ENST00000397049.1_Missense_Mutation_p.K153N	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TGCTTCAGAAGAAGAAATTCC	0.572																																						ENST00000397049.1																			0				large_intestine(3)|lung(8)|urinary_tract(1)	12						c.(457-459)aaG>aaC	Modulation of nucleotide pools	nudix (nucleoside diphosphate linked moiety X)-type motif 1							150.0	157.0	154.0					7																	2290555		2203	4300	6503	SO:0001628	intergenic_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2290555G>C	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2290555G>C						NUDT1_ENST00000397048.1_Missense_Mutation_p.K153N|NUDT1_ENST00000343985.4_Missense_Mutation_p.K153N|NUDT1_ENST00000356714.1_Missense_Mutation_p.K130N|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000397046.1_Missense_Mutation_p.K130N|NUDT1_ENST00000339737.2_Missense_Mutation_p.K130N	p.K153N	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	5	561	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	171			Nudix hydrolase.		A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.459G>C	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993045	0.19043	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.22	3.36	0.38483	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.477735	0.26153	N	0.026032	T	0.20251	0.0487	N	0.20986	0.625	0.42293	D	0.992143	B	0.17852	0.024	B	0.26770	0.073	T	0.05451	-1.0884	10	0.25751	T	0.34	-5.5612	9.3581	0.38179	0.0799:0.4132:0.5069:0.0	.	171	P36639	8ODP_HUMAN	N	130;153;130;153;153;130	ENSP00000349148:K130N;ENSP00000380242:K153N;ENSP00000380239:K130N;ENSP00000380241:K153N;ENSP00000339503:K153N;ENSP00000343439:K130N	ENSP00000343439:K130N	K	+	3	2	NUDT1	2257081	1.000000	0.71417	0.727000	0.30756	0.992000	0.81027	1.144000	0.31565	0.552000	0.29026	0.462000	0.41574	AAG		0.572	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			11	287	0	0	0	1	0	11	287				
MAGI2	9863	broad.mit.edu	37	7	78150787	78150787	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:78150787C>T	ENST00000354212.4	-	4	967	c.714G>A	c.(712-714)gaG>gaA	p.E238E	MAGI2_ENST00000536571.1_Silent_p.E70E|MAGI2_ENST00000419488.1_Silent_p.E238E|MAGI2_ENST00000535697.1_Silent_p.E75E|MAGI2_ENST00000522391.1_Silent_p.E238E|MAGI2_ENST00000517762.1_5'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	238	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCACAGGCCTCTCTTCCTCTT	0.408																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(712-714)gaG>gaA		membrane associated guanylate kinase, WW and PDZ domain containing 2							167.0	165.0	166.0					7																	78150787		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78150787C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.714G>A	7.37:g.78150787C>T						MAGI2_ENST00000536571.1_Silent_p.E70E|MAGI2_ENST00000522391.1_Silent_p.E238E|MAGI2_ENST00000535697.1_Silent_p.E75E|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000419488.1_Silent_p.E238E	p.E238E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			4	967	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	238			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.714G>A	CCDS5594.1																																																																																				0.408	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		26	249	0	0	0	1	0	26	249				
FAM46D	169966	broad.mit.edu	37	X	79698716	79698716	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:79698716G>A	ENST00000308293.5	+	3	917	c.678G>A	c.(676-678)agG>agA	p.R226R	FAM46D_ENST00000538312.1_Silent_p.R226R	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	226										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TATGTACCAGGAAACCTGAAG	0.448																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(676-678)agG>agA		family with sequence similarity 46, member D							88.0	69.0	76.0					X																	79698716		2203	4299	6502	SO:0001819	synonymous_variant	169966							g.chrX:79698716G>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.678G>A	X.37:g.79698716G>A						FAM46D_ENST00000308293.5_Silent_p.R226R	p.R226R	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	1012	+			226					B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	c.678G>A	CCDS14446.1																																																																																				0.448	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		10	50	0	0	0	1	0	10	50				
EPS15	2060	broad.mit.edu	37	1	51930972	51930972	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:51930972G>A	ENST00000371733.3	-	6	432	c.336C>T	c.(334-336)atC>atT	p.I112I	RP11-253A20.1_ENST00000424246.1_RNA|EPS15_ENST00000371730.2_Silent_p.I112I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	112	Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AGGTTCCACTGATTAGCAAAG	0.388			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(334-336)atC>atT		epidermal growth factor receptor pathway substrate 15							118.0	109.0	112.0					1																	51930972		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51930972G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.336C>T	1.37:g.51930972G>A						EPS15_ENST00000371730.2_Silent_p.I112I	p.I112I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			6	432	-			112					B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.336C>T	CCDS557.1																																																																																				0.388	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		5	65	0	0	0	1	0	5	65				
C1orf162	128346	broad.mit.edu	37	1	112019465	112019465	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:112019465C>T	ENST00000343534.5	+	3	333	c.83C>T	c.(82-84)gCa>gTa	p.A28V	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.A28V	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	28						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACTAGCCCTGCACCCTGTCTC	0.463																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(82-84)gCa>gTa		chromosome 1 open reading frame 162							217.0	181.0	193.0					1																	112019465		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112019465C>T	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.83C>T	1.37:g.112019465C>T	ENSP00000344218:p.Ala28Val					C1orf162_ENST00000369718.3_Missense_Mutation_p.A28V|C1orf162_ENST00000464591.1_3'UTR	p.A28V	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	3	333	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	28					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.83C>T	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921933	0.52653	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	D;D	0.95918	-3.85;-3.85	4.66	-0.819	0.10829	.	0.913925	0.09148	N	0.841952	T	0.80019	0.4547	N	0.19112	0.55	0.09310	N	1	B	0.20550	0.046	B	0.19666	0.026	T	0.70842	-0.4762	10	0.52906	T	0.07	0.0045	3.0798	0.06259	0.313:0.4078:0.0:0.2791	.	28	Q8NEQ5	CA162_HUMAN	V	28	ENSP00000344218:A28V;ENSP00000358732:A28V	ENSP00000344218:A28V	A	+	2	0	C1orf162	111820988	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.156000	0.10100	-0.216000	0.10048	0.555000	0.69702	GCA		0.463	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		8	131	0	0	0	1	0	8	131				
ANKRD27	84079	broad.mit.edu	37	19	33108525	33108525	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:33108525C>G	ENST00000306065.4	-	21	2180	c.2022G>C	c.(2020-2022)ttG>ttC	p.L674F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	674					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAACTGCTCTCAAAAGTTTTT	0.274																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2020-2022)ttG>ttC		ankyrin repeat domain 27 (VPS9 domain)							27.0	31.0	29.0					19																	33108525		2199	4298	6497	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33108525C>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2022G>C	19.37:g.33108525C>G	ENSP00000304292:p.Leu674Phe						p.L674F	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			21	2180	-	Esophageal squamous(110;0.137)		674					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2022G>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397126	0.42512	.	.	ENSG00000105186	ENST00000306065	T	0.71817	-0.6	5.71	3.61	0.41365	Ankyrin repeat-containing domain (3);	0.000000	0.42682	D	0.000674	T	0.62454	0.2429	N	0.12746	0.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60742	-0.7203	10	0.08381	T	0.77	-11.5611	5.4186	0.16388	0.1187:0.2004:0.0:0.6809	.	674	Q96NW4	ANR27_HUMAN	F	674	ENSP00000304292:L674F	ENSP00000304292:L674F	L	-	3	2	ANKRD27	37800365	0.999000	0.42202	1.000000	0.80357	0.911000	0.54048	0.392000	0.20801	1.006000	0.39211	-0.238000	0.12139	TTG		0.274	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		4	72	0	0	0	1	0	4	72				
ATAD2B	54454	broad.mit.edu	37	2	23980425	23980425	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:23980425G>A	ENST00000238789.5	-	25	4284	c.3941C>T	c.(3940-3942)tCa>tTa	p.S1314L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1314						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTCTTTTGACTGGTCCTC	0.393																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(3940-3942)tCa>tTa		ATPase family, AAA domain containing 2B							184.0	177.0	179.0					2																	23980425		1825	4089	5914	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980425G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3941C>T	2.37:g.23980425G>A	ENSP00000238789:p.Ser1314Leu					ATAD2B_ENST00000474583.1_5'UTR	p.S1314L	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			25	4284	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1314					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.3941C>T	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.600414|1.600414	0.28534|0.28534	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.91068	.|-2.78	5.27|5.27	3.45|3.45	0.39498|0.39498	.|.	.|7.905450	.|0.00166	.|N	.|0.000007	.|T	.|0.80465	.|0.4628	N|N	0.03608|0.03608	-0.345|-0.345	0.23607|0.23607	N|N	0.997306|0.997306	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	.|T	.|0.69049	.|-0.5248	.|10	.|0.27082	.|T	.|0.32	.|.	7.2947|7.2947	0.26387|0.26387	0.1378:0.0:0.7258:0.1364|0.1378:0.0:0.7258:0.1364	.|.	.|1314;1309	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	X|L	590|1314;482	.|ENSP00000238789:S1314L	.|ENSP00000238789:S1314L	Q|S	-|-	1|2	0|0	ATAD2B|ATAD2B	23833929|23833929	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	1.936000|1.936000	0.40183|0.40183	0.699000|0.699000	0.31761|0.31761	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.393	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		10	200	0	0	0	1	0	10	200				
PDE10A	10846	broad.mit.edu	37	6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TACAGTGACCGCATGCTTCCA	0.438																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.A520V(1)	breast(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1558-1560)gCg>gTg		phosphodiesterase 10A	Dipyridamole(DB00975)						172.0	134.0	147.0					6																	165806202		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165806202G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1559C>T	6.37:g.165806202G>A	ENSP00000355847:p.Ala520Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V	p.A520V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	17	1713	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	520					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1559C>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554837	0.86231	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.88818	-2.43;-2.43	5.43	4.56	0.56223	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.047408	0.85682	D	0.000000	D	0.91509	0.7319	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.989;0.998	P;P	0.59171	0.465;0.853	D	0.91174	0.4971	10	0.41790	T	0.15	.	15.5814	0.76445	0.0:0.0:0.8611:0.1389	.	530;520	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	520;548;530;520;519	ENSP00000355847:A520V;ENSP00000346435:A520V	ENSP00000341187:A530V	A	-	2	0	PDE10A	165726192	1.000000	0.71417	0.209000	0.23619	0.911000	0.54048	9.074000	0.93998	1.275000	0.44379	0.585000	0.79938	GCG		0.438	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			8	74	0	0	0	1	0	8	74				
POLR3B	55703	broad.mit.edu	37	12	106895152	106895152	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:106895152G>A	ENST00000228347.4	+	26	3258	c.3036G>A	c.(3034-3036)ctG>ctA	p.L1012L	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L954L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1012					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATCAGAAGCTGAAACACATGG	0.438																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3034-3036)ctG>ctA		polymerase (RNA) III (DNA directed) polypeptide B							69.0	74.0	72.0					12																	106895152		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106895152G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3036G>A	12.37:g.106895152G>A						POLR3B_ENST00000539066.1_Silent_p.L954L|RP11-144F15.1_ENST00000551505.1_Intron	p.L1012L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			26	3258	+			1012					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.3036G>A	CCDS9105.1																																																																																				0.438	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		4	120	0	0	0	1	0	4	120				
ARPC1A	10552	broad.mit.edu	37	7	98961223	98961223	+	Silent	SNP	C	C	T	rs533832675		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:98961223C>T	ENST00000262942.5	+	9	1165	c.1041C>T	c.(1039-1041)ggC>ggT	p.G347G	ARPC1A_ENST00000432884.2_Silent_p.G300G	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	347					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GCACTACTGGCATCGATGGAG	0.338																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(898-900)ggC>ggT		actin related protein 2/3 complex, subunit 1A, 41kDa							123.0	106.0	112.0					7																	98961223		2203	4300	6503	SO:0001819	synonymous_variant	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98961223C>T	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.1041C>T	7.37:g.98961223C>T						ARPC1A_ENST00000262942.5_Silent_p.G347G	p.G300G			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	1361	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		347					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Silent	SNP	ENST00000262942.5	37	c.900C>T	CCDS5660.1																																																																																				0.338	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		11	81	0	0	0	1	0	11	81				
CYP2C18	1562	broad.mit.edu	37	10	96447916	96447916	+	Missense_Mutation	SNP	G	G	C	rs190647817		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:96447916G>C	ENST00000285979.6	+	3	565	c.366G>C	c.(364-366)gaG>gaC	p.E122D	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E122D|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	122					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GATGGAAGGAGATCCGGCGTT	0.517																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(364-366)gaG>gaC		cytochrome P450, family 2, subfamily C, polypeptide 18							113.0	102.0	106.0					10																	96447916		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96447916G>C	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.366G>C	10.37:g.96447916G>C	ENSP00000285979:p.Glu122Asp					CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E122D	p.E122D	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	3	565	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.366G>C	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147337	0.21288	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69561	-0.41;-0.41	4.63	-0.194	0.13240	.	0.145235	0.46145	N	0.000303	T	0.68613	0.3020	M	0.63169	1.94	0.09310	N	0.999994	D;B	0.53462	0.96;0.007	P;B	0.59357	0.856;0.007	T	0.58629	-0.7603	10	0.25106	T	0.35	.	6.171	0.20416	0.2939:0.1439:0.5622:0.0	.	122;122	Q4VAT5;P33260	.;CP2CI_HUMAN	D	122	ENSP00000341293:E122D;ENSP00000285979:E122D	ENSP00000285979:E122D	E	+	3	2	CYP2C18	96437906	0.153000	0.22777	0.066000	0.19879	0.811000	0.45836	0.739000	0.26173	0.041000	0.15688	0.306000	0.20318	GAG		0.517	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		15	114	0	0	0	1	0	15	114				
ABCC9	10060	broad.mit.edu	37	12	22068703	22068703	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:22068703G>A	ENST00000261201.4	-	5	714	c.715C>T	c.(715-717)Cac>Tac	p.H239Y	ABCC9_ENST00000345162.2_Missense_Mutation_p.H239Y|ABCC9_ENST00000261200.4_Missense_Mutation_p.H239Y	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	239					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GGCTTTTTGTGAGCAGATATA	0.373																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(715-717)Cac>Tac		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						140.0	129.0	133.0					12																	22068703		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068703G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.715C>T	12.37:g.22068703G>A	ENSP00000261201:p.His239Tyr					ABCC9_ENST00000261201.4_Missense_Mutation_p.H239Y|ABCC9_ENST00000345162.2_Missense_Mutation_p.H239Y	p.H239Y	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			5	714	-			239					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.715C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714646	0.15306	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.90197	-2.6;-2.61;-2.63	4.91	4.91	0.64330	.	0.045642	0.85682	D	0.000000	D	0.84106	0.5399	L	0.29908	0.895	0.58432	D	0.999997	B;B	0.28713	0.22;0.043	B;B	0.29942	0.109;0.019	T	0.79708	-0.1690	10	0.02654	T	1	-18.4996	18.2902	0.90127	0.0:0.0:1.0:0.0	.	239;239	O60706;O60706-2	ABCC9_HUMAN;.	Y	239	ENSP00000261200:H239Y;ENSP00000261201:H239Y;ENSP00000261202:H239Y	ENSP00000261200:H239Y	H	-	1	0	ABCC9	21959970	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.700000	0.84556	2.548000	0.85928	0.650000	0.86243	CAC		0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		9	127	0	0	0	1	0	9	127				
OR1N2	138882	broad.mit.edu	37	9	125316290	125316290	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:125316290C>G	ENST00000373688.2	+	1	900	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTTCCTCCATCAACTTACTCT	0.463																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(841-843)tCa>tGa		olfactory receptor, family 1, subfamily N, member 2							185.0	187.0	186.0					9																	125316290		2203	4300	6503	SO:0001587	stop_gained	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316290C>G		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.842C>G	9.37:g.125316290C>G	ENSP00000362792:p.Ser281*						p.S281*	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	900	+			281					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Nonsense_Mutation	SNP	ENST00000373688.2	37	c.842C>G	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942921	0.73672	.	.	ENSG00000171501	ENST00000373688	.	.	.	4.46	4.46	0.54185	.	0.183154	0.26662	N	0.023154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.2271	0.82306	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000362792:S281X	S	+	2	0	OR1N2	124356111	.	.	0.934000	0.37439	0.469000	0.32828	.	.	2.339000	0.79563	0.644000	0.83932	TCA		0.463	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			10	151	0	0	0	1	0	10	151				
NFATC2	4773	broad.mit.edu	37	20	50140149	50140149	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:50140149G>C	ENST00000396009.3	-	2	850	c.631C>G	c.(631-633)Cat>Gat	p.H211D	NFATC2_ENST00000609943.1_Missense_Mutation_p.H191D|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Missense_Mutation_p.H211D|NFATC2_ENST00000414705.1_Missense_Mutation_p.H191D|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	211	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGAATAATGAGCAGGGATG	0.632																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(631-633)Cat>Gat		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							63.0	72.0	69.0					20																	50140149		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140149G>C	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.631C>G	20.37:g.50140149G>C	ENSP00000379330:p.His211Asp					NFATC2_ENST00000414705.1_Missense_Mutation_p.H191D|NFATC2_ENST00000396009.3_Missense_Mutation_p.H211D	p.H211D	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	850	-	Hepatocellular(150;0.248)		211			3 X approximate SP repeats.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.631C>G	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	5.986	0.365898	0.11352	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.78003	-1.14;-1.14;-1.14	5.61	4.64	0.57946	.	0.228603	0.45867	D	0.000321	T	0.71728	0.3374	L	0.44542	1.39	0.28989	N	0.888162	B;P;B;B	0.35192	0.31;0.489;0.252;0.252	B;B;B;B	0.36608	0.091;0.229;0.113;0.197	T	0.65340	-0.6192	10	0.28530	T	0.3	-6.7682	15.1634	0.72801	0.0:0.0:0.8444:0.1556	.	191;191;211;211	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	D	211;211;191	ENSP00000360619:H211D;ENSP00000379330:H211D;ENSP00000396471:H191D	ENSP00000360619:H211D	H	-	1	0	NFATC2	49573556	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.314000	0.51943	1.305000	0.44909	0.462000	0.41574	CAT		0.632	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		7	161	0	0	0	1	0	7	161				
NDNF	79625	broad.mit.edu	37	4	121958385	121958385	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:121958385G>A	ENST00000379692.4	-	4	1267	c.741C>T	c.(739-741)ttC>ttT	p.F247F	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	247					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAAAGGGGCTGAAGTCCAGAC	0.453																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(739-741)ttC>ttT		neuron-derived neurotrophic factor							104.0	106.0	106.0					4																	121958385		2203	4300	6503	SO:0001819	synonymous_variant	79625							g.chr4:121958385G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.741C>T	4.37:g.121958385G>A						NDNF_ENST00000506900.1_5'UTR	p.F247F	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1267	-			247					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.741C>T	CCDS3717.2																																																																																				0.453	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		5	74	0	0	0	1	0	5	74				
REV3L	5980	broad.mit.edu	37	6	111694120	111694120	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:111694120G>A	ENST00000358835.3	-	14	5892	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	REV3L_ENST00000368805.1_Missense_Mutation_p.S1813L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1813L|REV3L_ENST00000435970.1_Missense_Mutation_p.S1735L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1813					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTATTGGCTGAGTCAAGAGA	0.423								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5203-5205)tCa>tTa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							151.0	137.0	142.0					6																	111694120		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694120G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5438C>T	6.37:g.111694120G>A	ENSP00000351697:p.Ser1813Leu					REV3L_ENST00000368805.1_Missense_Mutation_p.S1813L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1813L|REV3L_ENST00000358835.3_Missense_Mutation_p.S1813L	p.S1735L			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6020	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1813					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5204C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954435	0.53293	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02032	4.58;4.58;4.58;4.49	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.348186	0.27912	N	0.017342	T	0.02156	0.0067	L	0.50333	1.59	0.45097	D	0.998114	B	0.27853	0.191	B	0.29267	0.1	T	0.53173	-0.8476	10	0.54805	T	0.06	-4.5825	20.3368	0.98748	0.0:0.0:1.0:0.0	.	1813	O60673	DPOLZ_HUMAN	L	1813;1813;1813;1735	ENSP00000357792:S1813L;ENSP00000357795:S1813L;ENSP00000351697:S1813L;ENSP00000402003:S1735L	ENSP00000351697:S1813L	S	-	2	0	REV3L	111800813	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.134000	0.94467	2.805000	0.96524	0.655000	0.94253	TCA		0.423	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		11	199	0	0	0	1	0	11	199				
PTPRB	5787	broad.mit.edu	37	12	70983815	70983815	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:70983815C>A	ENST00000261266.5	-	6	1354	c.1325G>T	c.(1324-1326)aGa>aTa	p.R442I	PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538708.1_Missense_Mutation_p.R442I|PTPRB_ENST00000550358.1_Missense_Mutation_p.R660I|PTPRB_ENST00000551525.1_Missense_Mutation_p.R659I|PTPRB_ENST00000334414.6_Missense_Mutation_p.R660I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	442	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCATACTGTCTTCCCGGTAC	0.458											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1978-1980)aGa>aTa		protein tyrosine phosphatase, receptor type, B							154.0	158.0	157.0					12																	70983815		1987	4161	6148	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983815C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1325G>T	12.37:g.70983815C>A	ENSP00000261266:p.Arg442Ile		OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.R442I|PTPRB_ENST00000538708.1_Missense_Mutation_p.R442I|PTPRB_ENST00000550358.1_Missense_Mutation_p.R660I|PTPRB_ENST00000551525.1_Missense_Mutation_p.R659I	p.R660I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		8	2023	-	Renal(347;0.236)		442			Fibronectin type-III 8.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1979G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855329	0.51376	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.32	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.156867	0.53938	D	0.000056	T	0.76004	0.3927	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D;D	0.67145	0.985;0.996;0.995;0.987;0.994;0.974	D;D;D;D;D;D	0.75020	0.956;0.985;0.981;0.921;0.974;0.921	T	0.77051	-0.2731	10	0.39692	T	0.17	.	13.3725	0.60721	0.0:0.9243:0.0:0.0757	.	442;539;659;660;442;660	F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	I	660;660;660;442;442;659;539	ENSP00000334928:R660I;ENSP00000448058:R660I;ENSP00000438927:R442I;ENSP00000261266:R442I;ENSP00000448349:R659I;ENSP00000446982:R539I	ENSP00000261266:R442I	R	-	2	0	PTPRB	69270082	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	3.950000	0.56676	2.469000	0.83416	0.655000	0.94253	AGA		0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			8	117	1	0	0.00307968	1	0.00311428	8	117				
UGGT2	55757	broad.mit.edu	37	13	96675963	96675963	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:96675963G>C	ENST00000376747.3	-	3	362	c.292C>G	c.(292-294)Cta>Gta	p.L98V	UGGT2_ENST00000376714.3_Missense_Mutation_p.L98V|UGGT2_ENST00000397618.3_Missense_Mutation_p.L98V|UGGT2_ENST00000376712.4_Missense_Mutation_p.L98V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	98					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAATTGTCTAGAAACTGTCCA	0.328																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(292-294)Cta>Gta		UDP-glucose glycoprotein glucosyltransferase 2							92.0	94.0	93.0					13																	96675963		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96675963G>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.292C>G	13.37:g.96675963G>C	ENSP00000365938:p.Leu98Val					UGGT2_ENST00000397618.3_Missense_Mutation_p.L98V|UGGT2_ENST00000376712.4_Missense_Mutation_p.L98V|UGGT2_ENST00000376714.3_Missense_Mutation_p.L98V	p.L98V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			3	362	-			98					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.292C>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105387	0.56291	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.37584	2.83;1.19	5.58	1.69	0.24217	.	0.000000	0.64402	D	0.000001	T	0.58061	0.2096	M	0.84219	2.685	0.52099	D	0.999945	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.87578	0.998;0.998;0.831	T	0.57631	-0.7778	10	0.87932	D	0	-11.8689	8.9962	0.36055	0.5768:0.0:0.4232:0.0	.	98;98;98	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	V	98	ENSP00000365938:L98V;ENSP00000380743:L98V	ENSP00000365902:L98V	L	-	1	2	UGGT2	95473964	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.168000	0.42424	0.083000	0.17047	-0.300000	0.09419	CTA		0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		10	170	0	0	0	1	0	10	170				
POM121	9883	broad.mit.edu	37	7	72413727	72413727	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:72413727C>T	ENST00000434423.2	+	11	3195	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	POM121_ENST00000257622.4_Silent_p.F800F|POM121_ENST00000446813.1_Silent_p.F800F|POM121_ENST00000358357.3_Silent_p.F800F|POM121_ENST00000395270.1_Silent_p.F800F			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1065	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)				CTGTCTTCTTCGGTGCAGCCA	0.657																																						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.(2398-2400)ttC>ttT		POM121 transmembrane nucleoporin																																				SO:0001819	synonymous_variant	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.chr7:72413727C>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.3195C>T	7.37:g.72413727C>T						POM121_ENST00000257622.4_Silent_p.F800F|POM121_ENST00000358357.3_Silent_p.F800F|POM121_ENST00000434423.2_Silent_p.F1065F|POM121_ENST00000446813.1_Silent_p.F800F	p.F800F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3441	+		Lung NSC(55;0.163)	1065			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.2400C>T																																																																																					0.657	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			4	92	0	0	0	1	0	4	92				
YTHDC2	64848	broad.mit.edu	37	5	112871475	112871475	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:112871475G>A	ENST00000161863.4	+	7	1295	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G361E	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	361	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATATTTTGGAAGTTGTCCA	0.299																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1081-1083)gGa>gAa		YTH domain containing 2							43.0	47.0	46.0					5																	112871475		2200	4298	6498	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112871475G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1082G>A	5.37:g.112871475G>A	ENSP00000161863:p.Gly361Glu					YTHDC2_ENST00000515883.1_Missense_Mutation_p.G361E	p.G361E	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	7	1295	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	361			Helicase ATP-binding.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.1082G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609441	0.66558	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.23552	1.9;1.9	5.61	5.61	0.85477	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	M	0.74389	2.26	0.80722	D	1	P	0.46621	0.881	B	0.41860	0.368	T	0.36089	-0.9762	10	0.62326	D	0.03	.	19.6493	0.95794	0.0:0.0:1.0:0.0	.	361	Q9H6S0	YTDC2_HUMAN	E	361;361;271	ENSP00000161863:G361E;ENSP00000423101:G361E	ENSP00000161863:G361E	G	+	2	0	YTHDC2	112899374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.425000	0.80255	2.638000	0.89438	0.650000	0.86243	GGA		0.299	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		3	35	0	0	0	1	0	3	35				
SCN1A	6323	broad.mit.edu	37	2	166894586	166894586	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:166894586G>A	ENST00000303395.4	-	15	2645	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I871I|SCN1A_ENST00000409050.1_Silent_p.I854I|SCN1A_ENST00000423058.2_Silent_p.I882I|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	882					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTGCCGATGATCTTTATTA	0.403																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2644-2646)atC>atT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						55.0	58.0	57.0					2																	166894586		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894586G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2646C>T	2.37:g.166894586G>A						AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I871I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I882I|SCN1A_ENST00000409050.1_Silent_p.I854I|AC010127.3_ENST00000599041.1_RNA	p.I882I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			15	2663	-			882					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.2646C>T	CCDS54413.1																																																																																				0.403	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	118	0	0	0	1	0	6	118				
CCDC54	84692	broad.mit.edu	37	3	107097120	107097120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:107097120C>A	ENST00000261058.1	+	1	933	c.686C>A	c.(685-687)tCa>tAa	p.S229*		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	229										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CAAAATGCATCAAGGAGCTTT	0.368																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(685-687)tCa>tAa		coiled-coil domain containing 54							81.0	85.0	83.0					3																	107097120		2203	4300	6503	SO:0001587	stop_gained	84692							g.chr3:107097120C>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.686C>A	3.37:g.107097120C>A	ENSP00000261058:p.Ser229*						p.S229*	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	933	+			229					Q96A43	Nonsense_Mutation	SNP	ENST00000261058.1	37	c.686C>A	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961082	0.53400	.	.	ENSG00000138483	ENST00000261058	.	.	.	5.09	1.41	0.22369	.	1.688980	0.04029	N	0.301050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	0.0301	3.0463	0.06154	0.2102:0.4542:0.0:0.3356	.	.	.	.	X	229	.	ENSP00000261058:S229X	S	+	2	0	CCDC54	108579810	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.214000	0.09292	0.404000	0.25506	0.460000	0.39030	TCA		0.368	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		10	147	1	0	4.68919e-08	1	4.79576e-08	10	147				
GPR179	440435	broad.mit.edu	37	17	36486420	36486420	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:36486420C>T	ENST00000342292.4	-	11	3052	c.3032G>A	c.(3031-3033)gGc>gAc	p.G1011D	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1011					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCTGAGGGGCCTTCCTGGGG	0.622																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3031-3033)gGc>gAc		G protein-coupled receptor 179							48.0	51.0	50.0					17																	36486420		1909	4122	6031	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486420C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3032G>A	17.37:g.36486420C>T	ENSP00000345060:p.Gly1011Asp						p.G1011D	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	3052	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1011						Missense_Mutation	SNP	ENST00000342292.4	37	c.3032G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270299	0.23221	.	.	ENSG00000188888	ENST00000342292	T	0.50277	0.75	5.38	-5.82	0.02333	.	1.192290	0.05961	N	0.640607	T	0.23965	0.0580	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.22417	-1.0217	10	0.08837	T	0.75	-1.0074	2.3942	0.04386	0.1072:0.2192:0.3722:0.3014	.	1011	Q6PRD1	GP179_HUMAN	D	1011	ENSP00000345060:G1011D	ENSP00000345060:G1011D	G	-	2	0	GPR179	33739946	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-1.017000	0.03630	-0.696000	0.05098	0.462000	0.41574	GGC		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			9	63	0	0	0	1	0	9	63				
TGM4	7047	broad.mit.edu	37	3	44952515	44952515	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:44952515G>A	ENST00000296125.4	+	12	1740	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	558					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTAGATGATGAGCCAGTTAT	0.458																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1672-1674)Gag>Aag		transglutaminase 4	L-Glutamine(DB00130)						121.0	110.0	114.0					3																	44952515		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952515G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1672G>A	3.37:g.44952515G>A	ENSP00000296125:p.Glu558Lys						p.E558K	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	12	1740	+			558					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1672G>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113291	0.56398	.	.	ENSG00000163810	ENST00000296125	T	0.74842	-0.88	2.88	2.88	0.33553	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.44688	U	0.000424	T	0.52948	0.1766	N	0.08118	0	0.44719	D	0.997715	P	0.37985	0.613	B	0.34301	0.179	T	0.63093	-0.6714	10	0.72032	D	0.01	.	12.7168	0.57119	0.0:0.0:1.0:0.0	.	558	P49221	TGM4_HUMAN	K	558	ENSP00000296125:E558K	ENSP00000296125:E558K	E	+	1	0	TGM4	44927519	0.980000	0.34600	0.051000	0.19133	0.019000	0.09904	1.423000	0.34837	1.529000	0.49120	0.563000	0.77884	GAG		0.458	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		7	90	0	0	0	1	0	7	90				
CNNM3	26505	broad.mit.edu	37	2	97490929	97490929	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:97490929G>A	ENST00000305510.3	+	2	1388	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	454					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGACGAGTCTGAAGACTACCG	0.607																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1360-1362)Gaa>Aaa		cyclin M3							74.0	60.0	65.0					2																	97490929		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97490929G>A	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1360G>A	2.37:g.97490929G>A	ENSP00000305449:p.Glu454Lys					CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	p.E454K	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			2	1388	+			454					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1360G>A	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588164	0.86851	.	.	ENSG00000168763	ENST00000305510	D	0.90676	-2.71	5.56	5.56	0.83823	.	0.192552	0.44097	D	0.000481	D	0.89301	0.6676	L	0.39514	1.22	0.80722	D	1	P	0.37233	0.588	B	0.41510	0.359	D	0.89867	0.4020	10	0.72032	D	0.01	-8.4337	18.3066	0.90184	0.0:0.0:1.0:0.0	.	454	Q8NE01	CNNM3_HUMAN	K	454	ENSP00000305449:E454K	ENSP00000305449:E454K	E	+	1	0	CNNM3	96854656	1.000000	0.71417	0.992000	0.48379	0.753000	0.42808	9.420000	0.97426	2.640000	0.89533	0.655000	0.94253	GAA		0.607	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		3	34	0	0	0	1	0	3	34				
ZBTB20	26137	broad.mit.edu	37	3	114070460	114070460	+	Silent	SNP	A	A	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:114070460A>T	ENST00000474710.1	-	4	643	c.465T>A	c.(463-465)atT>atA	p.I155I	ZBTB20_ENST00000464560.1_Silent_p.I82I|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.I82I|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.I82I|ZBTB20_ENST00000357258.3_Silent_p.I82I|ZBTB20_ENST00000393785.2_Silent_p.I82I|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.I82I	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	155	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACATGAAGTCAATGAGCTTTT	0.577																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(244-246)atT>atA		zinc finger and BTB domain containing 20							89.0	77.0	81.0					3																	114070460		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070460A>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.465T>A	3.37:g.114070460A>T						ZBTB20_ENST00000393785.2_Silent_p.I82I|ZBTB20_ENST00000474710.1_Silent_p.I155I|ZBTB20_ENST00000357258.3_Silent_p.I82I|ZBTB20_ENST00000464560.1_Silent_p.I82I|ZBTB20_ENST00000481632.1_Silent_p.I82I|ZBTB20_ENST00000471418.1_Silent_p.I82I	p.I82I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1067	-			155					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.246T>A	CCDS54626.1																																																																																				0.577	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		13	72	0	0	0	1	0	13	72				
TLE1	7088	broad.mit.edu	37	9	84226786	84226786	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:84226786C>T	ENST00000376499.3	-	13	2216	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	TLE1_ENST00000376472.1_Silent_p.L59L|TLE1_ENST00000376484.1_Silent_p.L59L|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	384	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTGGGCTGGTCAGCTCGCCGT	0.672																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1150-1152)ctG>ctA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							47.0	51.0	50.0					9																	84226786		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84226786C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1152G>A	9.37:g.84226786C>T						TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_Silent_p.L59L|TLE1_ENST00000376484.1_Silent_p.L59L	p.L384L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			13	2216	-			384			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1152G>A	CCDS6661.1																																																																																				0.672	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		4	57	0	0	0	1	0	4	57				
BTN2A2	10385	broad.mit.edu	37	6	26393148	26393148	+	Missense_Mutation	SNP	G	G	A	rs114098566		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:26393148G>A	ENST00000356709.4	+	8	1636	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	BTN2A2_ENST00000482536.1_Missense_Mutation_p.E299K|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E393K|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E509K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	509					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGTGCCTGAAGAGGGCCT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17371	0.0		0.001	False		,,,				2504	0.0					ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1525-1527)Gaa>Aaa		butyrophilin, subfamily 2, member A2		G	LYS/GLU,,LYS/GLU,,LYS/GLU,LYS/GLU	0,4406		0,0,2203	62.0	60.0	61.0		1525,,895,,1525,1177	1.6	0.0	6	dbSNP_132	61	3,8597		0,3,4297	no	missense,intron,missense,utr-3,missense,missense	BTN2A2	NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2	56,,56,,56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,,benign,,benign,benign	509/524,,299/314,,509/524,393/408	26393148	3,13003	2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393148G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1525G>A	6.37:g.26393148G>A	ENSP00000349143:p.Glu509Lys					BTN2A2_ENST00000482536.1_Missense_Mutation_p.E299K|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E509K|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E393K	p.E509K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1636	+			509					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1525G>A	CCDS4606.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	10.52	1.374272	0.24857	0.0	3.49E-4	ENSG00000124508	ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T	0.55760	1.42;1.04;0.5;1.42	3.63	1.6	0.23607	.	0.748354	0.11883	N	0.520373	T	0.15565	0.0375	L	0.35854	1.095	0.09310	N	1	B;B;B	0.22683	0.073;0.024;0.001	B;B;B	0.19946	0.027;0.017;0.003	T	0.21280	-1.0250	10	0.17369	T	0.5	.	4.097	0.09995	0.13:0.0:0.6432:0.2268	.	299;393;509	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	K	509;393;299;509	ENSP00000349143:E509K;ENSP00000337117:E393K;ENSP00000419451:E299K;ENSP00000399308:E509K	ENSP00000337117:E393K	E	+	1	0	BTN2A2	26501127	0.199000	0.23386	0.011000	0.14972	0.033000	0.12548	1.249000	0.32839	0.638000	0.30545	-0.479000	0.04858	GAA		0.552	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			7	67	0	0	0	1	0	7	67				
UBE3C	9690	broad.mit.edu	37	7	157046701	157046701	+	Silent	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:157046701G>C	ENST00000348165.5	+	20	3108	c.2748G>C	c.(2746-2748)cgG>cgC	p.R916R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	916	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCGCCAACCGGATTGCGTACA	0.517																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2746-2748)cgG>cgC		ubiquitin protein ligase E3C							59.0	59.0	59.0					7																	157046701		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157046701G>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2748G>C	7.37:g.157046701G>C							p.R916R	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	20	3108	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	916			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.2748G>C	CCDS34789.1																																																																																				0.517	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		7	46	0	0	0	1	0	7	46				
ENPP6	133121	broad.mit.edu	37	4	185012400	185012400	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:185012400G>A	ENST00000296741.2	-	8	1394	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	418					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)		GGCAGTGCTGGCGCGGCCCTT	0.562																																						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.(1252-1254)gCc>gTc		ectonucleotide pyrophosphatase/phosphodiesterase 6							71.0	67.0	68.0					4																	185012400		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012400G>A	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.1253C>T	4.37:g.185012400G>A	ENSP00000296741:p.Ala418Val						p.A418V	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)	8	1394	-		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)	418					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1253C>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763694	0.31228	.	.	ENSG00000164303	ENST00000296741	T	0.75050	-0.9	5.82	4.04	0.47022	.	2.386770	0.01548	N	0.019558	T	0.59676	0.2211	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47995	-0.9073	10	0.16420	T	0.52	-5.3248	10.123	0.42632	0.0722:0.0:0.7786:0.1491	.	418	Q6UWR7	ENPP6_HUMAN	V	418	ENSP00000296741:A418V	ENSP00000296741:A418V	A	-	2	0	ENPP6	185249394	0.202000	0.23423	0.001000	0.08648	0.006000	0.05464	2.712000	0.47186	0.767000	0.33267	0.591000	0.81541	GCC		0.562	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		6	73	0	0	0	1	0	6	73				
TRIM15	89870	broad.mit.edu	37	6	30138306	30138306	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:30138306G>C	ENST00000376694.4	+	5	1229	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	254					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGTGAGTCCTGAGGCCATTTC	0.473																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(760-762)Gag>Cag		tripartite motif containing 15							110.0	106.0	108.0					6																	30138306		2203	4300	6503	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138306G>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.760G>C	6.37:g.30138306G>C	ENSP00000365884:p.Glu254Gln					TRIM15_ENST00000376688.1_Intron	p.E254Q	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			5	1229	+			254					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.760G>C	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098322	0.37048	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.55760	0.5	5.62	3.81	0.43845	.	0.110691	0.39834	N	0.001243	T	0.31451	0.0797	M	0.73962	2.25	0.80722	D	1	B	0.26744	0.158	B	0.17098	0.017	T	0.17684	-1.0361	10	0.40728	T	0.16	.	7.6546	0.28369	0.0879:0.1652:0.7469:0.0	.	254	Q9C019	TRI15_HUMAN	Q	185;254	ENSP00000365884:E254Q	ENSP00000365884:E254Q	E	+	1	0	TRIM15	30246285	0.023000	0.18921	0.977000	0.42913	0.336000	0.28762	1.496000	0.35638	0.706000	0.31912	-0.234000	0.12200	GAG		0.473	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		7	86	0	0	0	1	0	7	86				
PCDHB13	56123	broad.mit.edu	37	5	140594698	140594698	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:140594698C>T	ENST00000341948.4	+	1	1190	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCACCGTTCTGATTCAAGT	0.423																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1003-1005)Ctg>Ttg									168.0	164.0	165.0					5																	140594698		2203	4300	6503	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594698C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1003C>T	5.37:g.140594698C>T							p.L335L	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1190	+			335			Cadherin 3.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.1003C>T	CCDS4255.1																																																																																				0.423	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		22	256	0	0	0	1	0	22	256				
C12orf5	57103	broad.mit.edu	37	12	4430449	4430449	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:4430449C>T	ENST00000179259.4	+	1	79	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	4					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TGGCTCGCTTCGCTCTGACTG	0.647																																					Colon(1;100 192 35375 49454 52532)	ENST00000179259.4																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10						c.(10-12)ttC>ttT		chromosome 12 open reading frame 5							64.0	64.0	64.0					12																	4430449		2203	4300	6503	SO:0001819	synonymous_variant	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4430449C>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.12C>T	12.37:g.4430449C>T							p.F4F	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		1	79	+			4					B2R840	Silent	SNP	ENST00000179259.4	37	c.12C>T	CCDS8525.1																																																																																				0.647	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		4	72	0	0	0	1	0	4	72				
ITGAD	3681	broad.mit.edu	37	16	31429877	31429877	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:31429877G>A	ENST00000389202.2	+	23	2821	c.2772G>A	c.(2770-2772)atG>atA	p.M924I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	924					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTACACCATGATCAGCAGGT	0.557																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2770-2772)atG>atA		integrin, alpha D							126.0	116.0	119.0					16																	31429877		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31429877G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2772G>A	16.37:g.31429877G>A	ENSP00000373854:p.Met924Ile						p.M924I	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			23	2821	+			924					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2772G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.907	0.351462	0.11182	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.43688	0.94	5.06	-1.34	0.09143	Integrin alpha-2 (1);	.	.	.	.	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.19160	-1.0314	9	0.38643	T	0.18	.	4.6379	0.12534	0.4339:0.1584:0.4077:0.0	.	940;924	Q59H14;Q13349	.;ITAD_HUMAN	I	940;924	ENSP00000373854:M924I	ENSP00000373854:M924I	M	+	3	0	ITGAD	31337378	0.301000	0.24444	0.448000	0.26945	0.162000	0.22319	-0.139000	0.10358	0.092000	0.17331	-0.345000	0.07892	ATG		0.557	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		5	92	0	0	0	1	0	5	92				
TOP2A	7153	broad.mit.edu	37	17	38573102	38573102	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:38573102C>G	ENST00000423485.1	-	2	225	c.67G>C	c.(67-69)Gat>Cat	p.D23H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	23					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCTTAGCATCTTCATTTTTC	0.318																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(67-69)Gat>Cat		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						203.0	166.0	177.0					17																	38573102		1811	4075	5886	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38573102C>G		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.67G>C	17.37:g.38573102C>G	ENSP00000411532:p.Asp23His						p.D23H	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		2	225	-		Breast(137;0.00328)	23					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.67G>C	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674831	0.67928	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.24350	1.86	4.87	4.87	0.63330	.	0.258501	0.40728	N	0.001029	T	0.23249	0.0562	N	0.24115	0.695	0.36266	D	0.854875	P	0.40875	0.731	B	0.42882	0.401	T	0.20438	-1.0275	10	0.46703	T	0.11	.	16.5694	0.84607	0.0:1.0:0.0:0.0	.	23	P11388	TOP2A_HUMAN	H	23;22;22;23	ENSP00000411532:D23H	ENSP00000269577:D22H	D	-	1	0	TOP2A	35826628	0.967000	0.33354	1.000000	0.80357	0.993000	0.82548	3.060000	0.49955	2.416000	0.81992	0.655000	0.94253	GAT		0.318	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			5	84	0	0	0	1	0	5	84				
FOXP1	27086	broad.mit.edu	37	3	71027138	71027138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:71027138C>T	ENST00000318789.4	-	15	1714	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	FOXP1_ENST00000493089.1_Missense_Mutation_p.E397K|FOXP1_ENST00000498215.1_Missense_Mutation_p.E397K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E399K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E321K|FOXP1_ENST00000475937.1_Missense_Mutation_p.E397K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E397K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	397					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGAGAAGCCTCCGATGCGGAC	0.527			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1189-1191)Gag>Aag		forkhead box P1							106.0	112.0	110.0					3																	71027138		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71027138C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1189G>A	3.37:g.71027138C>T	ENSP00000318902:p.Glu397Lys					FOXP1_ENST00000498215.1_Missense_Mutation_p.E397K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E399K|FOXP1_ENST00000493089.1_Missense_Mutation_p.E397K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E397K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E321K|FOXP1_ENST00000475937.1_Missense_Mutation_p.E397K	p.E397K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1714	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	397					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1189G>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641777	0.67244	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	6.03	6.03	0.97812	.	0.043801	0.85682	D	0.000000	T	0.36138	0.0956	L	0.43152	1.355	0.80722	D	1	B;B;B;P;P	0.42692	0.069;0.092;0.092;0.473;0.787	B;B;B;B;B	0.39660	0.053;0.046;0.028;0.191;0.306	T	0.02829	-1.1105	10	0.28530	T	0.3	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	397;396;397;321;397	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	K	397;209;297;397;397;293;399;397;397;321;397	ENSP00000318902:E397K;ENSP00000419393:E397K;ENSP00000418225:E293K;ENSP00000420736:E399K;ENSP00000418524:E397K;ENSP00000418102:E397K;ENSP00000417857:E321K;ENSP00000418883:E397K	ENSP00000318902:E397K	E	-	1	0	FOXP1	71109828	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.444000	0.60001	2.854000	0.98071	0.655000	0.94253	GAG		0.527	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		5	150	0	0	0	1	0	5	150				
KATNB1	10300	broad.mit.edu	37	16	57786825	57786825	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:57786825C>T	ENST00000379661.3	+	10	1232	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACCTGGCCATCTGCAATGACC	0.667																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(838-840)atC>atT		katanin p80 (WD repeat containing) subunit B 1							41.0	40.0	41.0					16																	57786825		2198	4300	6498	SO:0001819	synonymous_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57786825C>T	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.840C>T	16.37:g.57786825C>T							p.I280I	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			10	1232	+		all_neural(199;0.223)	280			Interaction with centrosomes.|Interaction with dynein (By similarity).			Silent	SNP	ENST00000379661.3	37	c.840C>T	CCDS10788.1																																																																																				0.667	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			3	21	0	0	0	1	0	3	21				
ZNF383	163087	broad.mit.edu	37	19	37733871	37733871	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:37733871C>G	ENST00000589413.1	+	8	1316	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	ZNF383_ENST00000590503.1_Missense_Mutation_p.Q245E|ZNF383_ENST00000352998.3_Missense_Mutation_p.Q245E			Q8NA42	ZN383_HUMAN	zinc finger protein 383	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q245E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCAACATCAGAGAATCCA	0.408																																						ENST00000589413.1																			1	Substitution - Missense(1)	p.Q245E(1)	lung(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(733-735)Cag>Gag		zinc finger protein 383							66.0	65.0	65.0					19																	37733871		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733871C>G	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.733C>G	19.37:g.37733871C>G	ENSP00000464871:p.Gln245Glu					ZNF383_ENST00000352998.3_Missense_Mutation_p.Q245E|ZNF383_ENST00000590503.1_Missense_Mutation_p.Q245E	p.Q245E			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1316	+			245					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.733C>G	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358030	0.24598	.	.	ENSG00000188283	ENST00000352998	T	0.35605	1.3	3.92	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30338	N	0.009854	T	0.28234	0.0697	L	0.37697	1.125	0.20703	N	0.999869	P	0.41624	0.757	B	0.37198	0.243	T	0.24440	-1.0160	10	0.49607	T	0.09	.	13.8156	0.63290	0.0:1.0:0.0:0.0	.	245	Q8NA42	ZN383_HUMAN	E	245	ENSP00000340132:Q245E	ENSP00000340132:Q245E	Q	+	1	0	ZNF383	42425711	0.964000	0.33143	1.000000	0.80357	0.991000	0.79684	1.535000	0.36061	2.163000	0.67991	0.563000	0.77884	CAG		0.408	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		5	80	0	0	0	1	0	5	80				
CD38	952	broad.mit.edu	37	4	15850186	15850186	+	Silent	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:15850186G>C	ENST00000226279.3	+	8	1001	c.864G>C	c.(862-864)gtG>gtC	p.V288V		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	288					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TTCAGTGTGTGAAAAATCCTG	0.428																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(862-864)gtG>gtC		CD38 molecule							159.0	132.0	141.0					4																	15850186		2203	4300	6503	SO:0001819	synonymous_variant	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15850186G>C	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.864G>C	4.37:g.15850186G>C							p.V288V	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			8	1001	+			288					O00121|O00122|Q96HY4	Silent	SNP	ENST00000226279.3	37	c.864G>C	CCDS3417.1																																																																																				0.428	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		9	86	0	0	0	1	0	9	86				
ASIC1	41	broad.mit.edu	37	12	50473825	50473825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:50473825G>T	ENST00000447966.2	+	8	1421	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*	ASIC1_ENST00000228468.4_Nonsense_Mutation_p.E398*|ASIC1_ENST00000552438.1_Nonsense_Mutation_p.E432*	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	398					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CAACAAATCTGAGCAATACAT	0.557																																						ENST00000228468.4																			0											c.(1192-1194)Gag>Tag		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						110.0	101.0	104.0					12																	50473825		2203	4300	6503	SO:0001587	stop_gained	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50473825G>T	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1192G>T	12.37:g.50473825G>T	ENSP00000400228:p.Glu398*					ASIC1_ENST00000447966.2_Nonsense_Mutation_p.E398*|ASIC1_ENST00000552438.1_Nonsense_Mutation_p.E432*	p.E398*	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			8	1577	+			398					A3KN86|E5KBL7|P78349|Q96CV2	Nonsense_Mutation	SNP	ENST00000447966.2	37	c.1192G>T	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	41	9.042559	0.99046	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-33.6474	18.3016	0.90165	0.0:0.0:1.0:0.0	.	.	.	.	X	398;398;432	.	ENSP00000228468:E398X	E	+	1	0	ACCN2	48760092	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.653000	0.90120	0.561000	0.74099	GAG		0.557	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		4	69	1	0	0.150653	1	0.150653	4	69				
NUDT17	200035	broad.mit.edu	37	1	145586858	145586858	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:145586858C>G	ENST00000334513.5	-	7	841	c.830G>C	c.(829-831)aGa>aCa	p.R277T	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	277							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTGCTGACTCTCTCTTTGTC	0.547																																						ENST00000334513.5																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9						c.(829-831)aGa>aCa		nudix (nucleoside diphosphate linked moiety X)-type motif 17							178.0	172.0	174.0					1																	145586858		2203	4300	6503	SO:0001583	missense	200035						hydrolase activity|metal ion binding	g.chr1:145586858C>G	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.830G>C	1.37:g.145586858C>G	ENSP00000334437:p.Arg277Thr						p.R277T	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN			7	841	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		277						Missense_Mutation	SNP	ENST00000334513.5	37	c.830G>C	CCDS30830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.43|12.43	1.935155|1.935155	0.34189|0.34189	.|.	.|.	ENSG00000186364|ENSG00000186364	ENST00000444015|ENST00000334513	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.063220	.|0.64402	.|D	.|0.000009	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.65975|0.65975	2.015|2.015	0.48696|0.48696	D|D	0.999692|0.999692	.|D	.|0.71674	.|0.998	.|D	.|0.78314	.|0.991	T|T	0.75955|0.75955	-0.3135|-0.3135	6|9	0.87932|0.87932	D|D	0|0	-16.2056|-16.2056	15.5889|15.5889	0.76510|0.76510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|277	.|P0C025	.|NUD17_HUMAN	Q|T	161|277	.|.	ENSP00000392616:E161Q|ENSP00000334437:R277T	E|R	-|-	1|2	0|0	NUDT17|NUDT17	144298215|144298215	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.538000|0.538000	0.34931|0.34931	3.431000|3.431000	0.52814|0.52814	2.519000|2.519000	0.84933|0.84933	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.547	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		14	210	0	0	0	1	0	14	210				
KIAA1109	84162	broad.mit.edu	37	4	123275103	123275103	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:123275103G>A	ENST00000264501.4	+	82	14609	c.14236G>A	c.(14236-14238)Gaa>Aaa	p.E4746K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4746K			Q2LD37	K1109_HUMAN	KIAA1109	4746					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCGTCGCCATGAAAATCCACC	0.388																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14236-14238)Gaa>Aaa		KIAA1109							89.0	86.0	87.0					4																	123275103		1862	4115	5977	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123275103G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14236G>A	4.37:g.123275103G>A	ENSP00000264501:p.Glu4746Lys					KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4746K	p.E4746K			Q2LD37	K1109_HUMAN			82	14609	+			4746					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14236G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827638|4.827638	0.90955|0.90955	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Fragile site-associated protein, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69611|0.69611	0.3130|0.3130	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.996;0.999|.	D;D|.	0.81914|.	0.987;0.995|.	T|T	0.62435|0.62435	-0.6855|-0.6855	10|5	0.07644|.	T|.	0.81|.	.|.	20.5891|20.5891	0.99427|0.99427	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4745;4746|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	K|I	4746;4746;1415;347|1121	ENSP00000264501:E4746K;ENSP00000373390:E4746K;ENSP00000410874:E1415K|.	ENSP00000264501:E4746K|.	E|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123494553|123494553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.876000|2.876000	0.98609|0.98609	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	68	0	0	0	1	0	5	68				
SPR	6697	broad.mit.edu	37	2	73115471	73115471	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:73115471C>T	ENST00000234454.5	+	2	406	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	111					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						CCAAAGGCTTCGTGGACCTGA	0.552											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234454.5																			0				lung(4)|ovary(2)	6						c.(331-333)ttC>ttT		sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)							142.0	136.0	138.0					2																	73115471		2203	4300	6503	SO:0001819	synonymous_variant	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73115471C>T		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.333C>T	2.37:g.73115471C>T			OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	SPR_ENST00000498749.1_Intron	p.F111F	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN			2	406	+			111					A8K741|D6W5H2|Q53GI9|Q9UBB1	Silent	SNP	ENST00000234454.5	37	c.333C>T	CCDS1920.1																																																																																				0.552	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			8	119	0	0	0	1	0	8	119				
DEPDC1	55635	broad.mit.edu	37	1	68948054	68948054	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:68948054G>A	ENST00000456315.2	-	8	1551	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	479					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACCAGCACTGAATGGCTTTT	0.373																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1435-1437)ttC>ttT		DEP domain containing 1							49.0	46.0	47.0					1																	68948054		1568	3582	5150	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948054G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1437C>T	1.37:g.68948054G>A						RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	p.F479F	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1551	-			479					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.1437C>T	CCDS44159.1																																																																																				0.373	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		5	52	0	0	0	1	0	5	52				
NUP133	55746	broad.mit.edu	37	1	229633923	229633923	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:229633923G>C	ENST00000261396.3	-	6	870	c.779C>G	c.(778-780)tCt>tGt	p.S260C	NUP133_ENST00000537506.1_Missense_Mutation_p.S244C	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	260					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.S260F(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAAAGAGAAGAAACTTTTCG	0.353																																						ENST00000261396.3																			1	Substitution - Missense(1)	p.S260F(1)	lung(1)	NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(778-780)tCt>tGt		nucleoporin 133kDa							60.0	62.0	61.0					1																	229633923		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229633923G>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.779C>G	1.37:g.229633923G>C	ENSP00000261396:p.Ser260Cys					NUP133_ENST00000537506.1_Missense_Mutation_p.S244C|NUP133_ENST00000366679.1_Missense_Mutation_p.S260C	p.S260C	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			6	870	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	260					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.779C>G	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136130	0.56936	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.33216	1.42;1.42;1.42	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60860	-0.7179	10	0.72032	D	0.01	-6.4796	19.8604	0.96781	0.0:0.0:1.0:0.0	.	260	Q8WUM0	NU133_HUMAN	C	260;260;260;244	ENSP00000261396:S260C;ENSP00000355640:S260C;ENSP00000443496:S244C	ENSP00000261396:S260C	S	-	2	0	NUP133	227700546	1.000000	0.71417	0.939000	0.37840	0.101000	0.19017	7.960000	0.87893	2.699000	0.92147	0.650000	0.86243	TCT		0.353	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		5	88	0	0	0	1	0	5	88				
RNF165	494470	broad.mit.edu	37	18	44015328	44015328	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:44015328C>G	ENST00000269439.7	+	3	505	c.454C>G	c.(454-456)Cag>Gag	p.Q152E	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	152							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCAGACACCTCAGCCCAGGTA	0.627																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(454-456)Cag>Gag		ring finger protein 165							58.0	51.0	53.0					18																	44015328		2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44015328C>G	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.454C>G	18.37:g.44015328C>G	ENSP00000269439:p.Gln152Glu					RNF165_ENST00000543885.1_Intron	p.Q152E	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	3	505	+			152					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.454C>G	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203702	0.79127	.	.	ENSG00000141622	ENST00000269439	T	0.20881	2.04	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	M	0.65498	2.005	0.80722	D	1	B	0.29612	0.251	B	0.36922	0.236	T	0.04946	-1.0916	10	0.45353	T	0.12	-5.9439	19.8766	0.96875	0.0:1.0:0.0:0.0	.	152	Q6ZSG1	RN165_HUMAN	E	152	ENSP00000269439:Q152E	ENSP00000269439:Q152E	Q	+	1	0	RNF165	42269326	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.181000	0.77682	2.698000	0.92095	0.561000	0.74099	CAG		0.627	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		4	58	0	0	0	1	0	4	58				
MUC13	56667	broad.mit.edu	37	3	124653538	124653538	+	Missense_Mutation	SNP	G	G	C	rs369858636		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:124653538G>C	ENST00000311075.3	-	1	57	c.19C>G	c.(19-21)Ctt>Gtt	p.L7V	MUC13_ENST00000497378.1_Intron	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	7					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AGAAGAGTAAGATGAATGATG	0.378																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(19-21)Ctt>Gtt		mucin 13, cell surface associated							132.0	119.0	124.0					3																	124653538		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124653538G>C	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.19C>G	3.37:g.124653538G>C	ENSP00000312235:p.Leu7Val					MUC13_ENST00000497378.1_Intron	p.L7V	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			1	57	-			7					Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.19C>G		.	.	.	.	.	.	.	.	.	.	G	5.649	0.304373	0.10678	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;T	0.56444	2.32;0.46	4.61	2.81	0.32909	.	1.080220	0.07283	N	0.871001	T	0.55210	0.1906	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.67103	0.949	T	0.44922	-0.9296	10	0.45353	T	0.12	0.0283	6.4102	0.21686	0.2146:0.0:0.7854:0.0	.	7	Q9H3R2	MUC13_HUMAN	V	7	ENSP00000312235:L7V;ENSP00000418660:L7V	ENSP00000312235:L7V	L	-	1	0	MUC13	126136228	0.005000	0.15991	0.003000	0.11579	0.067000	0.16453	1.043000	0.30316	1.289000	0.44618	0.655000	0.94253	CTT		0.378	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		4	86	0	0	0	1	0	4	86				
IL17A	3605	broad.mit.edu	37	6	52053869	52053869	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:52053869G>C	ENST00000340057.1	+	3	292	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	83					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGAGGACCCTGAGAGATATCC	0.502																																						ENST00000340057.1																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17						c.(247-249)Gag>Cag		interleukin 17A							49.0	46.0	47.0					6																	52053869		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52053869G>C	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.247G>C	6.37:g.52053869G>C	ENSP00000344192:p.Glu83Gln						p.E83Q	NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN			3	292	+	Lung NSC(77;0.116)		83					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.247G>C	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419227	0.62622	.	.	ENSG00000112115	ENST00000340057	T	0.55413	0.52	5.64	3.62	0.41486	.	0.225839	0.43110	D	0.000603	T	0.40448	0.1117	L	0.44542	1.39	0.25643	N	0.986188	D	0.58970	0.984	P	0.57679	0.825	T	0.22277	-1.0221	10	0.62326	D	0.03	-16.2086	6.465	0.21977	0.4:0.0:0.6:0.0	.	83	Q16552	IL17_HUMAN	Q	83	ENSP00000344192:E83Q	ENSP00000344192:E83Q	E	+	1	0	IL17A	52161828	0.910000	0.30920	0.982000	0.44146	0.796000	0.44982	1.429000	0.34903	1.401000	0.46761	0.609000	0.83330	GAG		0.502	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		4	32	0	0	0	1	0	4	32				
SERPINE3	647174	broad.mit.edu	37	13	51915427	51915427	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:51915427G>A	ENST00000521255.1	+	1	260	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SERPINE3_ENST00000400389.4_Missense_Mutation_p.G67E|SERPINE3_ENST00000524365.1_Missense_Mutation_p.G67E	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	67					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CTGCAGTTTGGAGCAGAAGGG	0.572																																						ENST00000524365.1																			0				ovary(2)	2						c.(199-201)gGa>gAa		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							62.0	68.0	66.0					13																	51915427		2147	4261	6408	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915427G>A	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.200G>A	13.37:g.51915427G>A	ENSP00000428316:p.Gly67Glu					SERPINE3_ENST00000400389.4_Missense_Mutation_p.G67E|SERPINE3_ENST00000521255.1_Missense_Mutation_p.G67E	p.G67E			A8MV23	SERP3_HUMAN			4	825	+			67					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.200G>A	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332519	0.41297	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.40756	1.02;1.02;1.02	4.47	1.74	0.24563	Serpin domain (3);	0.097590	0.40640	U	0.001056	T	0.65176	0.2666	M	0.89414	3.03	0.46849	D	0.999222	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.65721	-0.6099	10	0.87932	D	0	.	9.0018	0.36085	0.0788:0.2789:0.6424:0.0	.	67;67	A8MV23-2;A8MV23	.;SERP3_HUMAN	E	67	ENSP00000430755:G67E;ENSP00000428316:G67E;ENSP00000441468:G67E	ENSP00000441468:G67E	G	+	2	0	SERPINE3	50813428	1.000000	0.71417	0.807000	0.32361	0.041000	0.13682	4.737000	0.62066	0.140000	0.18849	-0.140000	0.14226	GGA		0.572	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	37	0	0	0	1	0	3	37				
ZBTB40	9923	broad.mit.edu	37	1	22838582	22838582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:22838582C>T	ENST00000375647.4	+	11	2623	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P694S|ZBTB40_ENST00000404138.1_Missense_Mutation_p.P806S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	806					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAAGAGGCTTCCAGTGACATG	0.498																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2416-2418)Cca>Tca		zinc finger and BTB domain containing 40							57.0	60.0	59.0					1																	22838582		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838582C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2416C>T	1.37:g.22838582C>T	ENSP00000364798:p.Pro806Ser					ZBTB40_ENST00000374651.4_Missense_Mutation_p.P694S|ZBTB40_ENST00000375647.4_Missense_Mutation_p.P806S	p.P806S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2927	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	806					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.2416C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274844	0.59649	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.79653	-1.29;-1.29;-1.29	5.73	4.83	0.62350	.	0.000000	0.56097	D	0.000038	T	0.77585	0.4152	L	0.60455	1.87	0.36898	D	0.890236	P;P	0.38535	0.513;0.635	B;B	0.37091	0.241;0.195	T	0.82703	-0.0326	10	0.72032	D	0.01	-6.1563	13.454	0.61189	0.0:0.9242:0.0:0.0757	.	694;806	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	806;806;694	ENSP00000384527:P806S;ENSP00000364798:P806S;ENSP00000363782:P694S	ENSP00000363782:P694S	P	+	1	0	ZBTB40	22711169	0.995000	0.38212	0.246000	0.24233	0.995000	0.86356	6.319000	0.72871	1.423000	0.47198	-0.136000	0.14681	CCA		0.498	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		4	79	0	0	0	1	0	4	79				
TRPM7	54822	broad.mit.edu	37	15	50888513	50888513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:50888513G>A	ENST00000313478.7	-	23	3510	c.3229C>T	c.(3229-3231)Caa>Taa	p.Q1077*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.Q1077*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1077					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAGACTGCTTGAAGAAATGGA	0.318																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(3229-3231)Caa>Taa		transient receptor potential cation channel, subfamily M, member 7							64.0	63.0	64.0					15																	50888513		1887	4113	6000	SO:0001587	stop_gained	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50888513G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3229C>T	15.37:g.50888513G>A	ENSP00000320239:p.Gln1077*					TRPM7_ENST00000560955.1_Nonsense_Mutation_p.Q1077*	p.Q1077*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	23	3510	-			1077					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Nonsense_Mutation	SNP	ENST00000313478.7	37	c.3229C>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	44	10.830805	0.99474	.	.	ENSG00000092439	ENST00000313478	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.8669	20.3507	0.98813	0.0:0.0:1.0:0.0	.	.	.	.	X	1077	.	ENSP00000320239:Q1077X	Q	-	1	0	TRPM7	48675805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.609000	0.74173	2.808000	0.96608	0.655000	0.94253	CAA		0.318	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		8	120	0	0	0	1	0	8	120				
COLGALT2	23127	broad.mit.edu	37	1	183913451	183913451	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:183913451C>T	ENST00000361927.4	-	10	1647	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	COLGALT2_ENST00000367520.3_Missense_Mutation_p.D163N|COLGALT2_ENST00000546159.1_Missense_Mutation_p.D426N|COLGALT2_ENST00000367521.1_Missense_Mutation_p.D34N	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	426					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										AGCTCTCGATCAATTACCTGC	0.363																																						ENST00000361927.4																			0											c.(1276-1278)Gat>Aat		collagen beta(1-O)galactosyltransferase 2							85.0	82.0	83.0					1																	183913451		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183913451C>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1276G>A	1.37:g.183913451C>T	ENSP00000354960:p.Asp426Asn					COLGALT2_ENST00000546159.1_Missense_Mutation_p.D426N|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D163N|COLGALT2_ENST00000367521.1_Missense_Mutation_p.D34N	p.D426N	NM_015101.2	NP_055916.1					10	1647	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.1276G>A	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103206	0.37145	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	T;T	0.78364	-1.15;-1.17	5.01	5.01	0.66863	.	0.142649	0.64402	D	0.000008	T	0.67683	0.2919	L	0.31926	0.97	0.46521	D	0.99908	B;B;B	0.21821	0.061;0.024;0.011	B;B;B	0.23852	0.045;0.049;0.033	T	0.63699	-0.6578	10	0.33141	T	0.24	.	12.2152	0.54402	0.0:0.9101:0.0:0.0899	.	426;426;163	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	N	426;426;34;163	ENSP00000439112:D426N;ENSP00000354960:D426N	ENSP00000354960:D426N	D	-	1	0	GLT25D2	182180074	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	4.614000	0.61183	2.326000	0.78906	0.561000	0.74099	GAT		0.363	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		5	86	0	0	0	1	0	5	86				
ITGB6	3694	broad.mit.edu	37	2	160968678	160968678	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:160968678G>C	ENST00000283249.2	-	13	2251	c.2014C>G	c.(2014-2016)Ctg>Gtg	p.L672V	ITGB6_ENST00000409872.1_Missense_Mutation_p.L672V|ITGB6_ENST00000428609.2_Missense_Mutation_p.L630V|ITGB6_ENST00000409967.2_Missense_Mutation_p.L565V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	672					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTCCTTGCAGAGAGCAGGAA	0.348																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2014-2016)Ctg>Gtg		integrin, beta 6							136.0	126.0	130.0					2																	160968678		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160968678G>C		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2014C>G	2.37:g.160968678G>C	ENSP00000283249:p.Leu672Val					ITGB6_ENST00000428609.2_Missense_Mutation_p.L630V|ITGB6_ENST00000409872.1_Missense_Mutation_p.L672V|ITGB6_ENST00000409967.2_Missense_Mutation_p.L565V	p.L672V			P18564	ITB6_HUMAN			13	2251	-			672					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2014C>G	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405767	0.42715	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;T;D	0.82526	-1.62;-1.62;-0.16;-1.62	5.78	4.79	0.61399	Integrin beta subunit, tail (2);	0.158374	0.43747	D	0.000529	T	0.76069	0.3936	M	0.63428	1.95	0.39948	D	0.974508	B;B	0.27166	0.17;0.17	B;B	0.30029	0.11;0.11	T	0.69202	-0.5207	10	0.20519	T	0.43	.	3.7883	0.08709	0.3286:0.0:0.6714:0.0	.	630;672	E9PEE8;P18564	.;ITB6_HUMAN	V	672;630;565;672	ENSP00000283249:L672V;ENSP00000408024:L630V;ENSP00000386828:L565V;ENSP00000386367:L672V	ENSP00000283249:L672V	L	-	1	2	ITGB6	160676924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.916000	0.39986	2.724000	0.93272	0.563000	0.77884	CTG		0.348	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		5	122	0	0	0	1	0	5	122				
LPHN3	23284	broad.mit.edu	37	4	62598777	62598777	+	Missense_Mutation	SNP	C	C	T	rs548241584		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:62598777C>T	ENST00000514591.1	+	7	1029	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000512091.2_Missense_Mutation_p.R234W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	234	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R234W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTGATTTGCGGACTAGGAT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19609	0.0		0.001	False		,,,				2504	0.0					ENST00000512091.1																			3	Substitution - Missense(3)	p.R234W(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(700-702)Cgg>Tgg		latrophilin 3							77.0	72.0	73.0					4																	62598777		1903	4117	6020	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598777C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.700C>T	4.37:g.62598777C>T	ENSP00000422533:p.Arg234Trp					LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W	p.R234W			Q9HAR2	LPHN3_HUMAN			7	1447	+			234			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.700C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919325	0.52546	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.26	2.36	0.29203	.	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.86420	2.815	0.51012	D	0.999909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.992	D	0.94655	0.7843	10	0.87932	D	0	.	13.0725	0.59070	0.5698:0.4302:0.0:0.0	.	234;302;234	E9PE04;E7EN28;Q9HAR2-2	.;.;.	W	234;234;302;302;234;234;234;234;234;302;302;302;234;234;234;302;302;234	ENSP00000423388:R234W;ENSP00000422533:R234W;ENSP00000423787:R302W;ENSP00000425033:R302W;ENSP00000424120:R234W;ENSP00000439831:R234W;ENSP00000421476:R302W;ENSP00000424030:R302W;ENSP00000421372:R302W;ENSP00000425201:R234W;ENSP00000423434:R234W;ENSP00000421627:R234W;ENSP00000420931:R302W;ENSP00000425884:R302W;ENSP00000424258:R234W	ENSP00000280009:R234W	R	+	1	2	LPHN3	62281372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.559000	0.36320	0.139000	0.18822	0.557000	0.71058	CGG		0.468	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	40	0	0	0	1	0	5	40				
FGF23	8074	broad.mit.edu	37	12	4479668	4479668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:4479668C>T	ENST00000237837.1	-	3	742	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	199					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|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 bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGCCGGGGTCATCCGGGCCC	0.682																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(595-597)atG>atA		fibroblast growth factor 23							16.0	20.0	19.0					12																	4479668		2198	4289	6487	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479668C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.597G>A	12.37:g.4479668C>T	ENSP00000237837:p.Met199Ile						p.M199I	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	742	-			199					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.597G>A	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867523	0.02590	.	.	ENSG00000118972	ENST00000237837	D	0.92149	-2.98	4.58	-1.78	0.07957	.	1.251400	0.05025	N	0.473566	D	0.84234	0.5427	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69465	-0.5138	10	0.42905	T	0.14	-4.9213	6.4107	0.21690	0.1255:0.2877:0.5087:0.0781	.	199	Q9GZV9	FGF23_HUMAN	I	199	ENSP00000237837:M199I	ENSP00000237837:M199I	M	-	3	0	FGF23	4349929	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-0.618000	0.05656	-1.146000	0.01853	ATG		0.682	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			5	49	0	0	0	1	0	5	49				
TMBIM1	64114	broad.mit.edu	37	2	219144753	219144753	+	Missense_Mutation	SNP	C	C	T	rs200483448		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:219144753C>T	ENST00000444881.1	-	4	1024	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	TMBIM1_ENST00000258412.3_Missense_Mutation_p.R100Q|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000445635.1_5'UTR|TMBIM1_ENST00000396809.2_Missense_Mutation_p.R100Q|PNKD_ENST00000472650.1_Intron			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	100					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTTACCTTTCGGATAAAAGT	0.587																																						ENST00000444881.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9						c.(298-300)cGa>cAa		transmembrane BAX inhibitor motif containing 1		C	,GLN/ARG	0,4406		0,0,2203	153.0	138.0	143.0		,299	1.0	1.0	2		143	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	PNKD,TMBIM1	NM_015488.4,NM_022152.4	,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,100/312	219144753	1,13005	2203	4300	6503	SO:0001583	missense	64114					integral to membrane		g.chr2:219144753C>T	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.299G>A	2.37:g.219144753C>T	ENSP00000409738:p.Arg100Gln					PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.R100Q|TMBIM1_ENST00000396809.2_Missense_Mutation_p.R100Q|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000445635.1_5'UTR	p.R100Q			Q969X1	TMBI1_HUMAN		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1024	-		Renal(207;0.0474)	100					B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	ENST00000444881.1	37	c.299G>A	CCDS2412.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080322	0.36662	0.0	1.16E-4	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000543441;ENST00000429501;ENST00000425694;ENST00000418569;ENST00000440422;ENST00000444183	T;T;T;T;T;T;T;T	0.56103	2.97;2.97;2.97;2.97;2.97;2.97;0.48;0.48	4.88	1.01	0.19927	.	0.179068	0.48767	N	0.000174	T	0.52933	0.1765	M	0.79123	2.44	0.80722	D	1	P	0.41848	0.763	B	0.42138	0.377	T	0.56792	-0.7920	10	0.66056	D	0.02	-1.6747	9.5403	0.39248	0.0:0.6689:0.0:0.3311	.	100	Q969X1	TMBI1_HUMAN	Q	100;100;100;38;100;100;100;100;100	ENSP00000258412:R100Q;ENSP00000409738:R100Q;ENSP00000380025:R100Q;ENSP00000399987:R100Q;ENSP00000399345:R100Q;ENSP00000406744:R100Q;ENSP00000412518:R100Q;ENSP00000410136:R100Q	ENSP00000258412:R100Q	R	-	2	0	TMBIM1	218852997	1.000000	0.71417	0.999000	0.59377	0.008000	0.06430	2.193000	0.42658	0.330000	0.23485	-0.140000	0.14226	CGA		0.587	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152		7	85	0	0	0	1	0	7	85				
FANCI	55215	broad.mit.edu	37	15	89844556	89844556	+	Splice_Site	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:89844556G>A	ENST00000310775.7	+	27	2975		c.e27-1		FANCI_ENST00000300027.8_Splice_Site	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I						cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCTTTCTCAGAGGTCCTTGT	0.443								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e27-1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							109.0	101.0	103.0					15																	89844556		2200	4299	6499	SO:0001630	splice_region_variant	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89844556G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2890-1G>A	15.37:g.89844556G>A						FANCI_ENST00000300027.8_Splice_Site		NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			27	2975	+	Lung NSC(78;0.0472)|all_lung(78;0.089)							A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Splice_Site	SNP	ENST00000310775.7	37		CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066367	0.76187	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1729	0.93588	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FANCI	87645560	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	8.782000	0.91809	2.541000	0.85698	0.655000	0.94253	.		0.443	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193	Intron	7	106	0	0	0	1	0	7	106				
OS9	10956	broad.mit.edu	37	12	58114262	58114262	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:58114262G>T	ENST00000315970.7	+	14	1880	c.1839G>T	c.(1837-1839)gaG>gaT	p.E613D	OS9_ENST00000389146.6_Missense_Mutation_p.E598D|OS9_ENST00000552285.1_Missense_Mutation_p.E558D|OS9_ENST00000435406.2_Missense_Mutation_p.E506D|OS9_ENST00000439210.2_Missense_Mutation_p.E484D|OS9_ENST00000551035.1_Missense_Mutation_p.E526D|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.E543D|OS9_ENST00000257966.8_Missense_Mutation_p.E559D|OS9_ENST00000413095.2_Missense_Mutation_p.E352D	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	613					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACTGATGAGGACACGAGAA	0.542																																						ENST00000315970.7																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(1837-1839)gaG>gaT		osteosarcoma amplified 9, endoplasmic reticulum lectin							101.0	99.0	100.0					12																	58114262		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58114262G>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1839G>T	12.37:g.58114262G>T	ENSP00000318165:p.Glu613Asp					OS9_ENST00000552285.1_Missense_Mutation_p.E558D|OS9_ENST00000439210.2_Missense_Mutation_p.E484D|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.E598D|OS9_ENST00000413095.2_Missense_Mutation_p.E352D|OS9_ENST00000389142.5_Missense_Mutation_p.E543D|OS9_ENST00000435406.2_Missense_Mutation_p.E506D|OS9_ENST00000551035.1_Missense_Mutation_p.E526D|OS9_ENST00000257966.8_Missense_Mutation_p.E559D	p.E613D	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		14	1880	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		613					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1839G>T	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732532	0.69189	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.57273	0.6;0.47;0.7;0.41;0.45;0.65;0.64;0.53;0.72	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	L	0.32530	0.975	0.46203	D	0.998923	D;D;D;D;D;D;D;D	0.89917	0.997;0.998;0.993;0.999;0.997;0.995;1.0;0.994	D;D;D;D;D;D;D;D	0.83275	0.978;0.99;0.967;0.994;0.978;0.98;0.996;0.97	T	0.55023	-0.8205	10	0.37606	T	0.19	.	10.9439	0.47289	0.0874:0.0:0.9126:0.0	.	484;526;352;559;543;558;598;613	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	D	558;613;484;598;352;526;559;506;543	ENSP00000450010:E558D;ENSP00000318165:E613D;ENSP00000407360:E484D;ENSP00000373798:E598D;ENSP00000413112:E352D;ENSP00000447866:E526D;ENSP00000257966:E559D;ENSP00000389632:E506D;ENSP00000373794:E543D	ENSP00000257966:E559D	E	+	3	2	OS9	56400529	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.363000	0.34159	2.606000	0.88127	0.655000	0.94253	GAG		0.542	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		6	54	1	0	0.0215528	1	0.0216329	6	54				
KRT27	342574	broad.mit.edu	37	17	38936044	38936044	+	Missense_Mutation	SNP	C	C	G	rs200018143		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:38936044C>G	ENST00000301656.3	-	4	794	c.754G>C	c.(754-756)Gac>Cac	p.D252H	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCGTGAGGTCTACCCCGGGG	0.537																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(754-756)Gac>Cac		keratin 27							54.0	55.0	55.0					17																	38936044		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936044C>G	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.754G>C	17.37:g.38936044C>G	ENSP00000301656:p.Asp252His						p.D252H	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	794	-		Breast(137;0.000812)	252			Linker 12.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.754G>C	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087978	0.94100	.	.	ENSG00000171446	ENST00000301656	D	0.92647	-3.08	5.51	5.51	0.81932	Filament (1);	0.000000	0.64402	D	0.000006	D	0.97654	0.9231	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98604	1.0660	10	0.87932	D	0	.	18.7578	0.91838	0.0:1.0:0.0:0.0	.	252	Q7Z3Y8	K1C27_HUMAN	H	252	ENSP00000301656:D252H	ENSP00000301656:D252H	D	-	1	0	KRT27	36189570	0.977000	0.34250	1.000000	0.80357	0.912000	0.54170	2.490000	0.45294	2.750000	0.94351	0.585000	0.79938	GAC		0.537	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		4	60	0	0	0	1	0	4	60				
MASTL	84930	broad.mit.edu	37	10	27459638	27459638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:27459638G>A	ENST00000375940.4	+	8	1807	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	MASTL_ENST00000375946.4_Missense_Mutation_p.E584K|MASTL_ENST00000342386.6_Missense_Mutation_p.E584K|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGTCCATTAGAAAGTCAGCC	0.318																																						ENST00000375946.4																			0				breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1750-1752)Gaa>Aaa		microtubule associated serine/threonine kinase-like							34.0	36.0	35.0					10																	27459638		2202	4298	6500	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459638G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1750G>A	10.37:g.27459638G>A	ENSP00000365107:p.Glu584Lys					MASTL_ENST00000375940.4_Missense_Mutation_p.E584K|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.E584K	p.E584K	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN			8	2353	+			584			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1750G>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510589	0.44660	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.25250	1.81;1.81;1.81	5.28	5.28	0.74379	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.324927	0.35772	N	0.002996	T	0.36386	0.0965	M	0.61703	1.905	0.44168	D	0.996971	P;P;P	0.42692	0.787;0.732;0.675	P;P;B	0.49226	0.603;0.479;0.42	T	0.06481	-1.0824	10	0.08837	T	0.75	-5.5234	18.2701	0.90065	0.0:0.0:1.0:0.0	.	584;584;584	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	K	584	ENSP00000365113:E584K;ENSP00000343446:E584K;ENSP00000365107:E584K	ENSP00000343446:E584K	E	+	1	0	MASTL	27499644	1.000000	0.71417	0.176000	0.23000	0.426000	0.31534	3.435000	0.52849	2.617000	0.88574	0.591000	0.81541	GAA		0.318	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		4	97	0	0	0	1	0	4	97				
NLN	57486	broad.mit.edu	37	5	65084006	65084006	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:65084006G>A	ENST00000380985.5	+	8	1198	c.1020G>A	c.(1018-1020)ttG>ttA	p.L340L	NLN_ENST00000502464.1_Silent_p.L236L	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	340						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTTTGAATTTGAAGAAAAAGG	0.358																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1018-1020)ttG>ttA		neurolysin (metallopeptidase M3 family)							98.0	105.0	103.0					5																	65084006		2202	4300	6502	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65084006G>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1020G>A	5.37:g.65084006G>A						NLN_ENST00000502464.1_Silent_p.L236L	p.L340L	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	8	1198	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	340					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.1020G>A	CCDS3989.1																																																																																				0.358	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			11	142	0	0	0	1	0	11	142				
ZNFX1	57169	broad.mit.edu	37	20	47886750	47886750	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:47886750C>T	ENST00000396105.1	-	3	1845	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	ZNFX1_ENST00000371752.1_Silent_p.Q533Q|ZNFX1_ENST00000371754.4_Silent_p.Q533Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	533							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGATATTCCTCTGGAAGGGAA	0.502																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1597-1599)caG>caA		zinc finger, NFX1-type containing 1							88.0	90.0	90.0					20																	47886750		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47886750C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1599G>A	20.37:g.47886750C>T						ZNFX1_ENST00000371754.4_Silent_p.Q533Q|ZNFX1_ENST00000371752.1_Silent_p.Q533Q	p.Q533Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1845	-			533					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.1599G>A	CCDS13417.1																																																																																				0.502	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		11	108	0	0	0	1	0	11	108				
GPR124	25960	broad.mit.edu	37	8	37691311	37691311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:37691311C>T	ENST00000412232.2	+	10	1415	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	GPR124_ENST00000315215.7_Nonsense_Mutation_p.Q468*	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	468					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTATGTGGCTCAGATGATCCA	0.527																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1402-1404)Cag>Tag		G protein-coupled receptor 124							104.0	105.0	105.0					8																	37691311		2203	4300	6503	SO:0001587	stop_gained	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37691311C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1402C>T	8.37:g.37691311C>T	ENSP00000406367:p.Gln468*					GPR124_ENST00000412232.2_Nonsense_Mutation_p.Q468*	p.Q468*			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		10	1765	+			468					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Nonsense_Mutation	SNP	ENST00000412232.2	37	c.1402C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	37	6.170442	0.97343	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	.	.	.	4.51	4.51	0.55191	.	0.150447	0.44902	D	0.000417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-11.6224	17.2164	0.86945	0.0:1.0:0.0:0.0	.	.	.	.	X	461;468;468	.	ENSP00000323508:Q468X	Q	+	1	0	GPR124	37810469	0.995000	0.38212	1.000000	0.80357	0.951000	0.60555	3.158000	0.50723	2.064000	0.61679	0.561000	0.74099	CAG		0.527	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	73	0	0	0	1	0	5	73				
GFAP	2670	broad.mit.edu	37	17	42987581	42987581	+	Intron	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:42987581G>C	ENST00000253408.5	-	7	1237				GFAP_ENST00000435360.2_Missense_Mutation_p.L407V|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGGCTTTTGAGATATCTTGTG	0.483																																						ENST00000435360.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1219-1221)Ctc>Gtc		glial fibrillary acidic protein							339.0	292.0	306.0					17																	42987581		1568	3582	5150	SO:0001627	intron_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987581G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1171+401C>G	17.37:g.42987581G>C						GFAP_ENST00000253408.5_Intron|GFAP_ENST00000588735.1_Intron	p.L407V	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN			8	1226	-		Prostate(33;0.0959)	405			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1219C>G	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809374	0.50421	.	.	ENSG00000131095	ENST00000435360	D	0.83591	-1.74	4.78	4.78	0.61160	.	.	.	.	.	D	0.82655	0.5084	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.83479	0.0063	9	0.54805	T	0.06	.	13.6287	0.62183	0.0:0.0:1.0:0.0	.	407	E9PAX3	.	V	407	ENSP00000403962:L407V	ENSP00000403962:L407V	L	-	1	0	GFAP	40343107	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.781000	0.55394	2.937000	0.99478	0.650000	0.86243	CTC		0.483	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		10	178	0	0	0	1	0	10	178				
GPAM	57678	broad.mit.edu	37	10	113928627	113928627	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:113928627C>T	ENST00000348367.4	-	10	1075	c.878G>A	c.(877-879)aGa>aAa	p.R293K	GPAM_ENST00000423155.1_Missense_Mutation_p.R293K|GPAM_ENST00000369425.1_Missense_Mutation_p.R293K			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	293					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GAGCAAAGCTCTATAGAGAAC	0.408																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(877-879)aGa>aAa		glycerol-3-phosphate acyltransferase, mitochondrial							130.0	122.0	124.0					10																	113928627		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928627C>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.878G>A	10.37:g.113928627C>T	ENSP00000265276:p.Arg293Lys					GPAM_ENST00000423155.1_Missense_Mutation_p.R293K|GPAM_ENST00000369425.1_Missense_Mutation_p.R293K	p.R293K			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	10	1075	-			293					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.878G>A	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859607	0.91433	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93133	-3.17;-3.17;-3.17	5.58	5.58	0.84498	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.92459	0.7606	N	0.22421	0.69	0.80722	D	1	P;P	0.51240	0.933;0.943	P;P	0.59288	0.855;0.855	D	0.91035	0.4867	10	0.29301	T	0.29	-19.7795	14.7486	0.69508	0.0:0.9287:0.0:0.0713	.	293;293	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	K	293	ENSP00000265276:R293K;ENSP00000409242:R293K;ENSP00000358433:R293K	ENSP00000265276:R293K	R	-	2	0	GPAM	113918617	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.646000	0.74348	2.620000	0.88729	0.643000	0.83706	AGA		0.408	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		4	85	0	0	0	1	0	4	85				
GTPBP1	9567	broad.mit.edu	37	22	39112877	39112877	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:39112877G>C	ENST00000216044.5	+	4	939	c.706G>C	c.(706-708)Gag>Cag	p.E236Q		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	236	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CGGCAGCCTGGAGTGGACCAA	0.517																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(706-708)Gag>Cag		GTP binding protein 1							116.0	98.0	104.0					22																	39112877		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112877G>C	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.706G>C	22.37:g.39112877G>C	ENSP00000216044:p.Glu236Gln						p.E236Q	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			4	939	+	Melanoma(58;0.04)		236					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.706G>C	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027328	0.75390	.	.	ENSG00000100226	ENST00000216044	T	0.32515	1.45	5.02	5.02	0.67125	Protein synthesis factor, GTP-binding (1);	0.048757	0.85682	D	0.000000	T	0.33556	0.0867	L	0.33668	1.02	0.58432	D	0.999999	P	0.41624	0.757	P	0.45138	0.471	T	0.15723	-1.0427	10	0.66056	D	0.02	.	18.338	0.90295	0.0:0.0:1.0:0.0	.	236	O00178	GTPB1_HUMAN	Q	236	ENSP00000216044:E236Q	ENSP00000216044:E236Q	E	+	1	0	GTPBP1	37442823	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.154000	0.94694	2.309000	0.77851	0.448000	0.29417	GAG		0.517	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		5	132	0	0	0	1	0	5	132				
HOOK2	29911	broad.mit.edu	37	19	12874125	12874125	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:12874125G>A	ENST00000397668.3	-	23	2204	c.2131C>T	c.(2131-2133)Ctg>Ttg	p.L711L	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Silent_p.L709L	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	711	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGAAGGTTCAGAGATGCCAGG	0.647																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(2125-2127)Ctg>Ttg		hook microtubule-tethering protein 2							50.0	56.0	54.0					19																	12874125		2094	4208	6302	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12874125G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.2131C>T	19.37:g.12874125G>A						HOOK2_ENST00000397668.3_Silent_p.L711L	p.L709L	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			22	2295	-			711			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Silent	SNP	ENST00000397668.3	37	c.2125C>T	CCDS42508.1																																																																																				0.647	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		6	65	0	0	0	1	0	6	65				
GCNT4	51301	broad.mit.edu	37	5	74325489	74325489	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:74325489G>A	ENST00000322348.4	-	1	1235	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	125					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)		CTCCTCCTTTGAGACAAGCTT	0.403																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(373-375)tCa>tTa		glucosaminyl (N-acetyl) transferase 4, core 2							132.0	128.0	129.0					5																	74325489		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.chr5:74325489G>A	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.374C>T	5.37:g.74325489G>A	ENSP00000317027:p.Ser125Leu						p.S125L	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1235	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	125						Missense_Mutation	SNP	ENST00000322348.4	37	c.374C>T	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.736566	0.49045	.	.	ENSG00000176928	ENST00000322348	T	0.60920	0.15	6.17	6.17	0.99709	.	0.197127	0.45867	D	0.000322	T	0.72558	0.3475	M	0.74467	2.265	0.37133	D	0.90136	D	0.59357	0.985	P	0.53518	0.728	T	0.76512	-0.2932	10	0.66056	D	0.02	-9.8639	20.8794	0.99867	0.0:0.0:1.0:0.0	.	125	Q9P109	GCNT4_HUMAN	L	125	ENSP00000317027:S125L	ENSP00000317027:S125L	S	-	2	0	GCNT4	74361245	1.000000	0.71417	0.783000	0.31826	0.102000	0.19082	5.680000	0.68168	2.941000	0.99782	0.655000	0.94253	TCA		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		11	141	0	0	0	1	0	11	141				
C9orf84	158401	broad.mit.edu	37	9	114538159	114538159	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:114538159G>A	ENST00000318737.4	-	3	290	c.162C>T	c.(160-162)gtC>gtT	p.V54V	C9orf84_ENST00000374283.5_Silent_p.V118V|C9orf84_ENST00000374287.3_Silent_p.V54V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	54										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTATAAACTGACCTCCTCTA	0.373																																						ENST00000374287.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(160-162)gtC>gtT		chromosome 9 open reading frame 84							107.0	101.0	103.0					9																	114538159		2203	4300	6503	SO:0001819	synonymous_variant	158401							g.chr9:114538159G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.162C>T	9.37:g.114538159G>A						C9orf84_ENST00000318737.4_Silent_p.V54V|C9orf84_ENST00000374283.5_Silent_p.V118V	p.V54V			Q5VXU9	CI084_HUMAN			5	422	-			54					A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	c.162C>T	CCDS6781.3																																																																																				0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		7	101	0	0	0	1	0	7	101				
OR5A2	219981	broad.mit.edu	37	11	59190019	59190019	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:59190019G>A	ENST00000302040.4	-	1	430	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TATGGGATATGAGGACTGTGT	0.458																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(406-408)ctC>ctT		olfactory receptor, family 5, subfamily A, member 2							82.0	75.0	78.0					11																	59190019		2201	4295	6496	SO:0001819	synonymous_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190019G>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.408C>T	11.37:g.59190019G>A							p.L136L	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	430	-			136					B9EH21|Q6IFF4|Q96RB0	Silent	SNP	ENST00000302040.4	37	c.408C>T	CCDS31560.1																																																																																				0.458	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		6	68	0	0	0	1	0	6	68				
KNTC1	9735	broad.mit.edu	37	12	123069497	123069497	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:123069497C>T	ENST00000333479.7	+	36	3671	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1165					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)		GTAGAGCTTTCCAGACAATGC	0.328																																						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.(3493-3495)tCc>tTc		kinetochore associated 1							77.0	73.0	75.0					12																	123069497		1812	4083	5895	SO:0001583	missense	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.chr12:123069497C>T		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.3494C>T	12.37:g.123069497C>T	ENSP00000328236:p.Ser1165Phe					KNTC1_ENST00000450485.2_Intron	p.S1165F	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)	36	3671	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1165					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.3494C>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	7.707	0.694395	0.15039	.	.	ENSG00000184445	ENST00000333479	T	0.14893	2.47	5.64	3.54	0.40534	.	0.115998	0.64402	D	0.000010	T	0.10121	0.0248	L	0.36672	1.1	0.80722	D	1	B	0.28783	0.222	B	0.21708	0.036	T	0.10613	-1.0622	10	0.10111	T	0.7	-4.9977	6.7436	0.23449	0.3385:0.493:0.1685:0.0	.	1165	P50748	KNTC1_HUMAN	F	1165	ENSP00000328236:S1165F	ENSP00000328236:S1165F	S	+	2	0	KNTC1	121635450	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.359000	0.59449	1.230000	0.43646	0.563000	0.77884	TCC		0.328	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			4	53	0	0	0	1	0	4	53				
GOLT1A	127845	broad.mit.edu	37	1	204170841	204170841	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:204170841C>T	ENST00000308302.3	-	3	401	c.216G>A	c.(214-216)ctG>ctA	p.L72L	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CCACACCCCCCAGGAGGAAGC	0.537																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(214-216)ctG>ctA		golgi transport 1A							147.0	156.0	153.0					1																	204170841		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170841C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.216G>A	1.37:g.204170841C>T							p.L72L	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	401	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		72						Silent	SNP	ENST00000308302.3	37	c.216G>A	CCDS1443.1																																																																																				0.537	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		6	129	0	0	0	1	0	6	129				
DNAH2	146754	broad.mit.edu	37	17	7663189	7663189	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:7663189C>T	ENST00000572933.1	+	17	4178	c.2718C>T	c.(2716-2718)gtC>gtT	p.V906V	DNAH2_ENST00000389173.2_Silent_p.V906V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	906	Stem. {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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATCTCTGTCTTCTGCCACC	0.542																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2716-2718)gtC>gtT		dynein, axonemal, heavy chain 2							308.0	278.0	288.0					17																	7663189		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7663189C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2718C>T	17.37:g.7663189C>T						DNAH2_ENST00000389173.2_Silent_p.V906V	p.V906V			Q9P225	DYH2_HUMAN			17	4178	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	906			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.2718C>T	CCDS32551.1																																																																																				0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		14	256	0	0	0	1	0	14	256				
POLR3E	55718	broad.mit.edu	37	16	22320778	22320778	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:22320778C>T	ENST00000299853.5	+	6	478	c.311C>T	c.(310-312)tCt>tTt	p.S104F	POLR3E_ENST00000564209.1_Missense_Mutation_p.S104F|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Missense_Mutation_p.S104F|POLR3E_ENST00000418581.2_Missense_Mutation_p.S68F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	104					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCTTCTGCTCTTCCCAGACC	0.637																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(310-312)tCt>tTt		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							299.0	271.0	281.0					16																	22320778		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22320778C>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.311C>T	16.37:g.22320778C>T	ENSP00000299853:p.Ser104Phe					POLR3E_ENST00000359210.4_Missense_Mutation_p.S104F|POLR3E_ENST00000564209.1_Missense_Mutation_p.S104F|POLR3E_ENST00000418581.2_Missense_Mutation_p.S68F|POLR3E_ENST00000564256.1_3'UTR	p.S104F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	6	478	+			104					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.311C>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643473	0.87859	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.53423	0.62;0.62;0.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.77797	-0.2453	10	0.87932	D	0	-14.7567	18.0041	0.89204	0.0:1.0:0.0:0.0	.	48;68;104;104;104;104	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	F	104;104;68	ENSP00000299853:S104F;ENSP00000352140:S104F;ENSP00000399254:S68F	ENSP00000299853:S104F	S	+	2	0	POLR3E	22228279	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.089000	0.76909	2.613000	0.88420	0.462000	0.41574	TCT		0.637	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		5	381	0	0	0	1	0	5	381				
CAMK2D	817	broad.mit.edu	37	4	114381309	114381309	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:114381309C>G	ENST00000342666.5	-	16	1197	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	CAMK2D_ENST00000454265.2_Missense_Mutation_p.E425Q|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E400Q|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E414Q|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E411Q|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E414Q|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E400Q|CAMK2D_ENST00000511664.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E399Q|CAMK2D_ENST00000508738.1_Missense_Mutation_p.E411Q|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E420Q|CAMK2D_ENST00000505990.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000296402.5_Missense_Mutation_p.E400Q|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E411Q			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	400					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|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 the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		GTACCATTTTCAAAGTAGAAT	0.343																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(1273-1275)Gaa>Caa		calcium/calmodulin-dependent protein kinase II delta							73.0	82.0	79.0					4																	114381309		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114381309C>G	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1198G>C	4.37:g.114381309C>G	ENSP00000339740:p.Glu400Gln					CAMK2D_ENST00000508738.1_Missense_Mutation_p.E411Q|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E420Q|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E399Q|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E400Q|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E414Q|CAMK2D_ENST00000505990.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E411Q|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E411Q|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E400Q|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E414Q|CAMK2D_ENST00000511664.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000296402.5_Missense_Mutation_p.E400Q|CAMK2D_ENST00000342666.5_Missense_Mutation_p.E400Q	p.E425Q			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	18	2131	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	400					A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.1273G>C	CCDS3703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.024856|5.024856	0.93518|0.93518	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738;ENST00000509594|ENST00000513132	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77350|.	0.4117|.	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;P;P;P;P|.	0.67145|.	0.996;0.955;0.955;0.855;0.938|.	D;P;P;P;P|.	0.67548|.	0.952;0.812;0.812;0.724;0.882|.	T|.	0.76735|.	-0.2850|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.3381|19.3381	0.94329|0.94329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	434;411;414;400;400|.	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557|.	.;.;.;.;KCC2D_HUMAN|.	Q|S	400;425;420;414;411;400;434;400;411;399;414;434;400;411;193|103	ENSP00000378032:E400Q;ENSP00000415248:E425Q;ENSP00000415707:E420Q;ENSP00000406131:E414Q;ENSP00000378034:E411Q;ENSP00000296402:E400Q;ENSP00000425824:E434Q;ENSP00000339740:E400Q;ENSP00000423482:E411Q;ENSP00000423677:E399Q;ENSP00000378030:E414Q;ENSP00000424245:E434Q;ENSP00000369098:E400Q;ENSP00000422566:E411Q;ENSP00000423753:E193Q|.	ENSP00000296402:E400Q|.	E|X	-|-	1|2	0|2	CAMK2D|CAMK2D	114600758|114600758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	7.446000|7.446000	0.80609|0.80609	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.343	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			5	108	0	0	0	1	0	5	108				
PLEKHG2	64857	broad.mit.edu	37	19	39912806	39912806	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:39912806T>G	ENST00000409794.3	+	17	2405	c.1555T>G	c.(1555-1557)Tca>Gca	p.S519A	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S490A|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.S519A|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S460A|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.S519A	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	519					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCACCAGTTTCAGGCTCTGC	0.572																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1468-1470)Tca>Gca		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							64.0	58.0	60.0					19																	39912806		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39912806T>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1555T>G	19.37:g.39912806T>G	ENSP00000386733:p.Ser519Ala					PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S519A|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S460A|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.S519A|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.S519A	p.S490A			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		15	1793	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		519					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1468T>G	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.050|8.050	0.765712|0.765712	0.15983|0.15983	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	.|T;T;T;T;T	.|0.70164	.|-0.19;-0.24;-0.46;-0.32;-0.46	5.96|5.96	-2.79|-2.79	0.05841|0.05841	.|.	.|0.891044	.|0.09572	.|N	.|0.784074	T|T	0.44498|0.44498	0.1296|0.1296	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22146	.|0.065;0.015;0.029;0.009	.|B;B;B;B	.|0.21708	.|0.036;0.017;0.021;0.006	T|T	0.22417|0.22417	-1.0217|-1.0217	5|10	.|0.30854	.|T	.|0.27	.|.	5.4505|5.4505	0.16563|0.16563	0.1381:0.3516:0.0:0.5103|0.1381:0.3516:0.0:0.5103	.|.	.|490;519;460;519	.|Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.|.;PKHG2_HUMAN;.;.	L|A	386|519;490;519;460;519	.|ENSP00000386733:S519A;ENSP00000392906:S490A;ENSP00000367812:S519A;ENSP00000408857:S460A;ENSP00000386492:S519A	.|ENSP00000367812:S519A	F|S	+|+	3|1	2|0	PLEKHG2|PLEKHG2	44604646|44604646	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.041000|0.041000	0.13682|0.13682	0.102000|0.102000	0.15272|0.15272	-0.672000|-0.672000	0.05266|0.05266	-0.248000|-0.248000	0.11899|0.11899	TTT|TCA		0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		4	27	0	0	0	1	0	4	27				
LMBR1L	55716	broad.mit.edu	37	12	49498291	49498291	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:49498291G>A	ENST00000267102.8	-	5	717	c.375C>T	c.(373-375)atC>atT	p.I125I	LMBR1L_ENST00000395141.4_Silent_p.I120I|LMBR1L_ENST00000547382.1_Silent_p.I125I|LMBR1L_ENST00000553204.1_Intron	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	125					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCATGAGGAAGATGAGGGACA	0.498																																						ENST00000267102.8																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(373-375)atC>atT		limb development membrane protein 1-like							147.0	140.0	142.0					12																	49498291		2203	4300	6503	SO:0001819	synonymous_variant	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49498291G>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.375C>T	12.37:g.49498291G>A						LMBR1L_ENST00000395141.4_Silent_p.I120I|LMBR1L_ENST00000547382.1_Silent_p.I125I|LMBR1L_ENST00000553204.1_Intron	p.I125I	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN			5	717	-			125					Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	c.375C>T	CCDS8780.2																																																																																				0.498	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		8	120	0	0	0	1	0	8	120				
MYO1H	283446	broad.mit.edu	37	12	109834318	109834318	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:109834318G>A	ENST00000431443.2	+	3	372	c.372G>A	c.(370-372)gtG>gtA	p.V124V	MYO1H_ENST00000310903.5_Silent_p.V124V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	124	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ATTTTGCAGTGACCTGCCCAA	0.493																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(370-372)gtG>gtA		myosin IH							72.0	71.0	71.0					12																	109834318		1895	4123	6018	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109834318G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.372G>A	12.37:g.109834318G>A						MYO1H_ENST00000431443.2_Silent_p.V124V	p.V124V			B4DNW6	B4DNW6_HUMAN			4	478	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.372G>A																																																																																					0.493	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	54	0	0	0	1	0	4	54				
DNMT1	1786	broad.mit.edu	37	19	10257201	10257201	+	Splice_Site	SNP	C	C	G	rs9676676		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:10257201C>G	ENST00000340748.4	-	27	2908		c.e27-1		DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Splice_Site|DNMT1_ENST00000359526.4_Splice_Site			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1						cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CACACAGAATCTGAAGGAAAC	0.562																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.e27-1		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						43.0	45.0	44.0					19																	10257201		2203	4300	6503	SO:0001630	splice_region_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10257201C>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2673-1G>C	19.37:g.10257201C>G						DNMT1_ENST00000359526.4_Splice_Site|DNMT1_ENST00000540357.1_Splice_Site				P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		27	2908	-								A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Splice_Site	SNP	ENST00000340748.4	37		CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764846	0.69878	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	.	.	.	5.3	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.922	0.58237	0.0:0.9201:0.0:0.0799	.	.	.	.	.	-1	.	.	.	-	.	.	DNMT1	10118201	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.586000	0.82596	1.237000	0.43756	0.655000	0.94253	.		0.562	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	Intron	5	90	0	0	0	1	0	5	90				
PDZRN3	23024	broad.mit.edu	37	3	73433958	73433958	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:73433958C>G	ENST00000263666.4	-	10	1873	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	PDZRN3_ENST00000466780.1_Missense_Mutation_p.E244Q|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E309Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E244Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E304Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	587					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCATTGTTCTCTTGCTCCGAG	0.637																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1759-1761)Gag>Cag		PDZ domain containing ring finger 3							89.0	79.0	82.0					3																	73433958		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433958C>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1759G>C	3.37:g.73433958C>G	ENSP00000263666:p.Glu587Gln					PDZRN3_ENST00000535920.1_Missense_Mutation_p.E309Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E244Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E304Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E244Q	p.E587Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	1873	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	587					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1759G>C	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.990587|3.990587	0.74589|0.74589	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.10382|.	2.88;3.57;3.45;3.45;3.57;3.57|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	1.165770|.	0.05970|.	N|.	0.642249|.	T|T	0.74876|0.74876	0.3774|0.3774	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.974;0.982;0.999;0.997|.	P;P;D;P|.	0.65773|.	0.886;0.753;0.938;0.901|.	T|T	0.75277|0.75277	-0.3374|-0.3374	10|5	0.72032|.	D|.	0.01|.	.|.	17.5919|17.5919	0.87999|0.87999	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;304;304;587|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	Q|N	587;309;244;244;304;587;285|183	ENSP00000263666:E587Q;ENSP00000442026:E309Q;ENSP00000418168:E244Q;ENSP00000418484:E244Q;ENSP00000418624:E304Q;ENSP00000419250:E285Q|.	ENSP00000263666:E587Q|.	E|K	-|-	1|3	0|2	PDZRN3|PDZRN3	73516648|73516648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	7.461000|7.461000	0.80834|0.80834	2.464000|2.464000	0.83262|0.83262	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.637	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		4	63	0	0	0	1	0	4	63				
HOXB1	3211	broad.mit.edu	37	17	46607143	46607143	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:46607143G>A	ENST00000239174.6	-	2	764	c.672C>T	c.(670-672)ttC>ttT	p.F224F	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	224					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTACTTGTTGAAATGGAACT	0.577																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(670-672)ttC>ttT		homeobox B1							131.0	135.0	134.0					17																	46607143		2203	4300	6503	SO:0001819	synonymous_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607143G>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.672C>T	17.37:g.46607143G>A						HOXB1_ENST00000577092.1_3'UTR	p.F224F	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			2	764	-			224					Q4VB03	Silent	SNP	ENST00000239174.6	37	c.672C>T	CCDS32675.1																																																																																				0.577	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			11	203	0	0	0	1	0	11	203				
WSCD2	9671	broad.mit.edu	37	12	108589738	108589738	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:108589738C>T	ENST00000332082.4	+	3	947	c.129C>T	c.(127-129)ccC>ccT	p.P43P	WSCD2_ENST00000261400.3_Silent_p.P43P|WSCD2_ENST00000547525.1_Silent_p.P43P|WSCD2_ENST00000549903.1_Silent_p.P43P			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	43						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGGCCAGCCCGCTGTCTCGG	0.612																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(127-129)ccC>ccT		WSC domain containing 2							97.0	104.0	102.0					12																	108589738		2033	4185	6218	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108589738C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.129C>T	12.37:g.108589738C>T						WSCD2_ENST00000261400.3_Silent_p.P43P|WSCD2_ENST00000549903.1_Silent_p.P43P|WSCD2_ENST00000547525.1_Silent_p.P43P	p.P43P			Q2TBF2	WSCD2_HUMAN			3	947	+			43					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.129C>T	CCDS41828.1																																																																																				0.612	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		8	137	0	0	0	1	0	8	137				
ZNF214	7761	broad.mit.edu	37	11	7022032	7022032	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:7022032C>T	ENST00000278314.4	-	3	1197	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Silent_p.Q294Q	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGTGAACTCTCTGATGAAAGT	0.433																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(880-882)caG>caA		zinc finger protein 214							129.0	129.0	129.0					11																	7022032		2200	4293	6493	SO:0001819	synonymous_variant	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022032C>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.882G>A	11.37:g.7022032C>T						ZNF214_ENST00000536068.1_Silent_p.Q294Q	p.Q294Q	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1197	-			294					B2R8Q1	Silent	SNP	ENST00000278314.4	37	c.882G>A	CCDS31418.1																																																																																				0.433	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			14	211	0	0	0	1	0	14	211				
CHRNE	1145	broad.mit.edu	37	17	4798511	4798511	+	IGR	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:4798511C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.S1000F|MINK1_ENST00000355280.6_Missense_Mutation_p.S1020F|MINK1_ENST00000347992.7_Missense_Mutation_p.S991F	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CGATTCAACTCCGAGATCCTC	0.597																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3058-3060)tCc>tTc		misshapen-like kinase 1							425.0	399.0	407.0					17																	4798511		1982	4158	6140	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798511C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798511C>T						MINK1_ENST00000347992.7_Missense_Mutation_p.S991F|MINK1_ENST00000453408.3_Missense_Mutation_p.S1000F	p.S1020F	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			25	3255	+			1020			CNH.|Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3059C>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359716	0.82353	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.77877	-1.12;-1.13;-1.11	5.3	5.3	0.74995	Citron-like (2);	0.064498	0.64402	D	0.000006	D	0.88288	0.6396	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.989;0.994	D;D;P;D	0.66716	0.946;0.931;0.854;0.931	D	0.89593	0.3829	10	0.87932	D	0	.	16.4886	0.84191	0.0:1.0:0.0:0.0	.	983;1000;1020;991	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	F	1020;1000;991	ENSP00000347427:S1020F;ENSP00000406487:S1000F;ENSP00000269296:S991F	ENSP00000269296:S991F	S	+	2	0	MINK1	4739287	1.000000	0.71417	0.762000	0.31397	0.764000	0.43329	7.300000	0.78841	2.757000	0.94681	0.655000	0.94253	TCC		0.597	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			6	262	0	0	0	1	0	6	262				
SLC25A6	293	broad.mit.edu	37	X	1508295	1508295	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:1508295C>G	ENST00000381401.5	-	2	1151	c.437G>C	c.(436-438)gGa>gCa	p.G146A	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	146					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(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)			Clodronate(DB00720)	GCCTGACTTTCCCACGTCCGC	0.667																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(436-438)gGa>gCa		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						118.0	123.0	121.0					X																	1508295		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508295C>G	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.437G>C	X.37:g.1508295C>G	ENSP00000370808:p.Gly146Ala					SLC25A6_ENST00000475167.1_5'UTR	p.G146A	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1151	-		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)	146					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.437G>C	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	15.52	2.858540	0.51376	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.77750	-1.12	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000029	D	0.85729	0.5764	M	0.82433	2.59	0.09310	N	1	D	0.63880	0.993	P	0.62491	0.903	T	0.77920	-0.2407	10	0.72032	D	0.01	.	12.0543	0.53524	0.0:1.0:0.0:0.0	.	146	P12236	ADT3_HUMAN	A	146	ENSP00000370808:G146A	ENSP00000370808:G146A	G	-	2	0	SLC25A6	1468295	0.999000	0.42202	0.011000	0.14972	0.356000	0.29392	5.896000	0.69822	0.982000	0.38575	0.402000	0.26972	GGA		0.667	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		7	218	0	0	0	1	0	7	218				
OR5H1	26341	broad.mit.edu	37	3	97852033	97852033	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:97852033C>G	ENST00000354565.2	+	1	492	c.492C>G	c.(490-492)ttC>ttG	p.F164L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GATTTTTATTCAGACTAACCT	0.343																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(490-492)ttC>ttG		olfactory receptor, family 5, subfamily H, member 1							29.0	38.0	35.0					3																	97852033		2185	4279	6464	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852033C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.492C>G	3.37:g.97852033C>G	ENSP00000346575:p.Phe164Leu					RP11-343D2.11_ENST00000508964.1_RNA	p.F164L	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	492	+			164						Missense_Mutation	SNP	ENST00000354565.2	37	c.492C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	0.885	-0.727412	0.03158	.	.	ENSG00000231192	ENST00000354565	T	0.00145	8.67	3.57	-7.14	0.01527	GPCR, rhodopsin-like superfamily (1);	0.791106	0.11008	N	0.609781	T	0.00109	0.0003	L	0.33710	1.025	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.15809	-1.0424	10	0.38643	T	0.18	.	6.757	0.23520	0.0:0.4715:0.256:0.2725	.	164	A6NKK0	OR5H1_HUMAN	L	164	ENSP00000346575:F164L	ENSP00000346575:F164L	F	+	3	2	OR5H1	99334723	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-2.064000	0.01387	-2.213000	0.00735	0.195000	0.17529	TTC		0.343	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		6	184	0	0	0	1	0	6	184				
CXXC5	51523	broad.mit.edu	37	5	139061005	139061005	+	Silent	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:139061005C>G	ENST00000302517.3	+	2	1611	c.897C>G	c.(895-897)ctC>ctG	p.L299L	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.L299L	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	299					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGAACTCAAAAAGAAGC	0.567																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(895-897)ctC>ctG		CXXC finger protein 5							84.0	95.0	91.0					5																	139061005		1969	4163	6132	SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139061005C>G	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.897C>G	5.37:g.139061005C>G						CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.L299L	p.L299L	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1611	+			299					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.897C>G	CCDS43370.1																																																																																				0.567	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		5	156	0	0	0	1	0	5	156				
MSI2	124540	broad.mit.edu	37	17	55339539	55339539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:55339539C>T	ENST00000284073.2	+	5	507	c.298C>T	c.(298-300)Cga>Tga	p.R100*	MSI2_ENST00000322684.3_Nonsense_Mutation_p.R96*|MSI2_ENST00000416426.2_Nonsense_Mutation_p.R78*	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	100	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ATTTCCTCGTCGAGCGCAACC	0.358			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(298-300)Cga>Tga		musashi RNA-binding protein 2							105.0	99.0	101.0					17																	55339539		2203	4300	6503	SO:0001587	stop_gained	124540					cytoplasm	nucleotide binding|RNA binding	g.chr17:55339539C>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.298C>T	17.37:g.55339539C>T	ENSP00000284073:p.Arg100*					MSI2_ENST00000416426.2_Nonsense_Mutation_p.R78*|MSI2_ENST00000322684.3_Nonsense_Mutation_p.R96*	p.R100*	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	5	507	+	Breast(9;1.78e-08)		100			RRM 1.		Q7Z6M7|Q8N9T4	Nonsense_Mutation	SNP	ENST00000284073.2	37	c.298C>T	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	C	37	6.018297	0.97205	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	.	.	.	5.95	4.98	0.66077	.	0.178825	0.34725	N	0.003737	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3686	0.60701	0.2868:0.7132:0.0:0.0	.	.	.	.	X	78;100;96	.	ENSP00000284073:R100X	R	+	1	2	MSI2	52694538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.010000	0.49559	1.510000	0.48803	-0.188000	0.12872	CGA		0.358	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			10	126	0	0	0	1	0	10	126				
C3	718	broad.mit.edu	37	19	6694573	6694573	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:6694573G>A	ENST00000245907.6	-	24	3115	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1008					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCCGCAGCCCGAGGGGGTCAC	0.607																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3022-3024)tCg>tTg		complement component 3							98.0	79.0	86.0					19																	6694573		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694573G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3023C>T	19.37:g.6694573G>A	ENSP00000245907:p.Ser1008Leu						p.S1008L	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3115	-			1008					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3023C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139150	0.56936	.	.	ENSG00000125730	ENST00000245907	T	0.49432	0.78	5.76	5.76	0.90799	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);Alpha-2-macroglobulin, conserved site (1);	0.482216	0.24016	N	0.042332	T	0.55065	0.1897	M	0.62723	1.935	0.09310	N	1	D	0.64830	0.994	P	0.54815	0.761	T	0.51172	-0.8739	10	0.11794	T	0.64	.	13.723	0.62740	0.0:0.0:0.8458:0.1542	.	1008	P01024	CO3_HUMAN	L	1008	ENSP00000245907:S1008L	ENSP00000245907:S1008L	S	-	2	0	C3	6645573	0.000000	0.05858	0.702000	0.30337	0.533000	0.34776	0.586000	0.23894	2.735000	0.93741	0.650000	0.86243	TCG		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	77	0	0	0	1	0	7	77				
CNTN3	5067	broad.mit.edu	37	3	74411183	74411183	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:74411183G>A	ENST00000263665.6	-	10	1249	c.1222C>T	c.(1222-1224)Cca>Tca	p.P408S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	408	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAAAAATCTGGAGCAGAAGCT	0.433																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1222-1224)Cca>Tca		contactin 3 (plasmacytoma associated)							49.0	54.0	52.0					3																	74411183		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411183G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1222C>T	3.37:g.74411183G>A	ENSP00000263665:p.Pro408Ser						p.P408S	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1249	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	408			Ig-like C2-type 5.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1222C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830571	0.91036	.	.	ENSG00000113805	ENST00000263665	T	0.73363	-0.74	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90021	0.6884	H	0.95611	3.695	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	D	0.92375	0.5908	10	0.87932	D	0	.	19.6614	0.95875	0.0:0.0:1.0:0.0	.	408	Q9P232	CNTN3_HUMAN	S	408	ENSP00000263665:P408S	ENSP00000263665:P408S	P	-	1	0	CNTN3	74493873	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	8.967000	0.93402	2.740000	0.93945	0.650000	0.86243	CCA		0.433	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		6	60	0	0	0	1	0	6	60				
GMPS	8833	broad.mit.edu	37	3	155628611	155628611	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:155628611G>A	ENST00000496455.2	+	6	992	c.657G>A	c.(655-657)gtG>gtA	p.V219V	GMPS_ENST00000295920.7_Silent_p.V120V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	219	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CCTTCACCGTGCAGAACAGAG	0.388			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)gtG>gtA		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						104.0	101.0	102.0					3																	155628611		1875	4106	5981	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155628611G>A	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.657G>A	3.37:g.155628611G>A						GMPS_ENST00000295920.7_Silent_p.V120V	p.V219V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	992	+			219					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.657G>A	CCDS46941.1																																																																																				0.388	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			11	73	0	0	0	1	0	11	73				
LYZL6	57151	broad.mit.edu	37	17	34266358	34266358	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:34266358C>T	ENST00000585556.1	-	2	337	c.3G>A	c.(1-3)atG>atA	p.M1I	LYZL6_ENST00000492340.2_5'Flank|LYZL6_ENST00000394523.3_Start_Codon_SNP_p.M1I|LYZL6_ENST00000293274.4_Start_Codon_SNP_p.M1I			O75951	LYZL6_HUMAN	lysozyme-like 6	1					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGCCTTTGTCATCCTTGGAG	0.557																																						ENST00000585556.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12						c.(1-3)atG>atA		lysozyme-like 6							118.0	111.0	113.0					17																	34266358		2203	4300	6503	SO:0001582	initiator_codon_variant	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34266358C>T	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.3G>A	17.37:g.34266358C>T	ENSP00000468094:p.Met1Ile					LYZL6_ENST00000293274.4_Start_Codon_SNP_p.M1I|LYZL6_ENST00000394523.3_Start_Codon_SNP_p.M1I	p.M1I			O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	337	-			1					Q6UW30	Translation_Start_Site	SNP	ENST00000585556.1	37	c.3G>A	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701149	0.48307	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.65178	-0.14;-0.14	5.29	4.26	0.50523	.	0.241333	0.30252	N	0.010060	T	0.48519	0.1504	.	.	.	0.80722	D	1	P	0.42692	0.787	B	0.33121	0.158	T	0.57745	-0.7758	9	0.87932	D	0	-5.1625	10.7268	0.46072	0.1897:0.8103:0.0:0.0	.	1	O75951	LYZL6_HUMAN	I	1	ENSP00000293274:M1I;ENSP00000378031:M1I	ENSP00000293274:M1I	M	-	3	0	LYZL6	31290471	0.083000	0.21467	0.594000	0.28785	0.116000	0.19942	1.023000	0.30065	2.646000	0.89796	0.655000	0.94253	ATG		0.557	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426	Missense_Mutation	6	147	0	0	0	1	0	6	147				
BTN2A2	10385	broad.mit.edu	37	6	26393159	26393159	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:26393159G>A	ENST00000356709.4	+	8	1647	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	BTN2A2_ENST00000482536.1_Silent_p.L302L|BTN2A2_ENST00000352867.2_Silent_p.L396L|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.L512L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	512					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AAGAGGGCCTGAAACTTCACA	0.562																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1534-1536)ctG>ctA		butyrophilin, subfamily 2, member A2							58.0	56.0	57.0					6																	26393159		2203	4300	6503	SO:0001819	synonymous_variant	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393159G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1536G>A	6.37:g.26393159G>A						BTN2A2_ENST00000482536.1_Silent_p.L302L|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.L512L|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Silent_p.L396L	p.L512L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1647	+			512					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	37	c.1536G>A	CCDS4606.1																																																																																				0.562	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			5	53	0	0	0	1	0	5	53				
OR4N5	390437	broad.mit.edu	37	14	20612771	20612771	+	Missense_Mutation	SNP	G	G	A	rs376724414		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:20612771G>A	ENST00000333629.1	+	1	877	c.877G>A	c.(877-879)Gag>Aag	p.E293K	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCGCAACCAGGAGGTGAAAGC	0.413																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(877-879)Gag>Aag		olfactory receptor, family 4, subfamily N, member 5		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	85.0	85.0	85.0		877	4.0	1.0	14		85	0,8600		0,0,4300	no	missense	OR4N5	NM_001004724.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	293/309	20612771	1,13005	2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612771G>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.877G>A	14.37:g.20612771G>A	ENSP00000332110:p.Glu293Lys						p.E293K	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	877	+	all_cancers(95;0.00108)		293					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.877G>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317015	0.60524	2.27E-4	0.0	ENSG00000184394	ENST00000333629	T	0.38077	1.16	4.0	4.0	0.46444	.	0.000000	0.45126	D	0.000382	T	0.38904	0.1058	M	0.68593	2.085	0.41084	D	0.985542	B	0.11235	0.004	B	0.16722	0.016	T	0.45160	-0.9280	10	0.87932	D	0	.	13.985	0.64328	0.0:0.0:1.0:0.0	.	293	Q8IXE1	OR4N5_HUMAN	K	293	ENSP00000332110:E293K	ENSP00000332110:E293K	E	+	1	0	OR4N5	19682611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.245000	0.72398	2.219000	0.72066	0.655000	0.94253	GAG		0.413	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			10	151	0	0	0	1	0	10	151				
OR2M3	127062	broad.mit.edu	37	1	248366390	248366390	+	Silent	SNP	C	C	T	rs139852822	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:248366390C>T	ENST00000456743.1	+	1	59	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAATTCGACCTTCAACTCCG	0.448													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17833	0.0		0.0	False		,,,				2504	0.0					ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(19-21)acC>acT		olfactory receptor, family 2, subfamily M, member 3		C		6,4400	9.9+/-24.2	0,6,2197	210.0	209.0	210.0		21	-0.3	0.0	1	dbSNP_134	210	0,8600		0,0,4300	no	coding-synonymous	OR2M3	NM_001004689.1		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		7/313	248366390	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366390C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.21C>T	1.37:g.248366390C>T							p.T7T	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	59	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		7					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.21C>T	CCDS31107.1																																																																																				0.448	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		15	202	0	0	0	1	0	15	202				
KMT2C	58508	broad.mit.edu	37	7	151851163	151851163	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:151851163G>A	ENST00000262189.6	-	48	12426	c.12208C>T	c.(12208-12210)Cct>Tct	p.P4070S	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000355193.2_Missense_Mutation_p.P4127S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4070					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTGGGGAAGGACCAAAAGGT	0.368																																						ENST00000355193.2																			0											c.(12379-12381)Cct>Tct		lysine (K)-specific methyltransferase 2C							99.0	101.0	100.0					7																	151851163		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151851163G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12208C>T	7.37:g.151851163G>A	ENSP00000262189:p.Pro4070Ser					KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000262189.6_Missense_Mutation_p.P4070S	p.P4127S							49	12597	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12379C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.906|9.906	1.208236|1.208236	0.22205|0.22205	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061|ENST00000360104	D;D;D|.	0.87179|.	-1.53;-1.52;-2.22|.	5.48|5.48	-4.15|-4.15	0.03881|0.03881	.|.	0.671048|.	0.12077|.	N|.	0.501666|.	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.03050|0.03050	-0.425|-0.425	0.21627|0.21627	N|N	0.999619|0.999619	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.29579|0.29579	-1.0007|-1.0007	10|5	0.07325|.	T|.	0.83|.	.|.	1.9586|1.9586	0.03381|0.03381	0.2834:0.3715:0.2227:0.1224|0.2834:0.3715:0.2227:0.1224	.|.	4070;3188;4127|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	S|F	4070;4127;687;196|1630	ENSP00000262189:P4070S;ENSP00000347325:P4127S;ENSP00000410411:P687S|.	ENSP00000262189:P4070S|.	P|S	-|-	1|2	0|0	MLL3|MLL3	151482096|151482096	0.258000|0.258000	0.24033|0.24033	0.755000|0.755000	0.31263|0.31263	0.764000|0.764000	0.43329|0.43329	0.378000|0.378000	0.20569|0.20569	-0.454000|-0.454000	0.07066|0.07066	-0.238000|-0.238000	0.12139|0.12139	CCT|TCC		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			12	93	0	0	0	1	0	12	93				
FMN1	342184	broad.mit.edu	37	15	33261005	33261005	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:33261005G>A	ENST00000559047.1	-	5	2896	c.2897C>T	c.(2896-2898)tCt>tTt	p.S966F	FMN1_ENST00000334528.9_Missense_Mutation_p.S743F|FMN1_ENST00000561249.1_Missense_Mutation_p.S868F|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	966	Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTGACTGGAAGAAGAGCCAAG	0.552																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2227-2229)tCt>tTt		formin 1							93.0	90.0	91.0					15																	33261005		1814	4075	5889	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261005G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2897C>T	15.37:g.33261005G>A	ENSP00000454047:p.Ser966Phe					FMN1_ENST00000561249.1_Missense_Mutation_p.S868F|FMN1_ENST00000559047.1_Missense_Mutation_p.S966F	p.S743F	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2227	-		all_lung(180;1.14e-07)	966			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2228C>T		.	.	.	.	.	.	.	.	.	.	G	12.06	1.825838	0.32237	.	.	ENSG00000248905	ENST00000334528	T	0.42900	0.96	4.42	3.5	0.40072	.	0.577163	0.18723	N	0.132964	T	0.53916	0.1826	L	0.53249	1.67	.	.	.	D	0.71674	0.998	D	0.64877	0.93	T	0.63019	-0.6730	9	0.39692	T	0.17	.	10.7225	0.46048	0.0889:0.0:0.9111:0.0	.	743	Q68DA7-5	.	F	743	ENSP00000333950:S743F	ENSP00000333950:S743F	S	-	2	0	FMN1	31048297	1.000000	0.71417	0.659000	0.29680	0.547000	0.35210	5.534000	0.67167	1.069000	0.40788	0.650000	0.86243	TCT		0.552	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		6	105	0	0	0	1	0	6	105				
DCHS2	54798	broad.mit.edu	37	4	155254071	155254071	+	Missense_Mutation	SNP	G	G	A	rs72966165	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:155254071G>A	ENST00000357232.4	-	9	1791	c.1792C>T	c.(1792-1794)Ctc>Ttc	p.L598F	DCHS2_ENST00000339452.1_Missense_Mutation_p.L1097F|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	598	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)			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)		ATCGGTGAGAGAGACTCACTG	0.562																																						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.(1792-1794)Ctc>Ttc		dachsous cadherin-related 2							88.0	86.0	87.0					4																	155254071		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254071G>A	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.1792C>T	4.37:g.155254071G>A	ENSP00000349768:p.Leu598Phe					DCHS2_ENST00000339452.1_Missense_Mutation_p.L1097F	p.L598F	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1791	-	all_hematologic(180;0.208)	Renal(120;0.0854)	598			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1792C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	8.775	0.926897	0.18056	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.61742	0.08;0.65	5.21	3.42	0.39159	Cadherin (2);Cadherin-like (1);	0.112136	0.38381	N	0.001718	T	0.65974	0.2743	M	0.86268	2.805	0.19300	N	0.999974	D;P	0.57899	0.981;0.923	P;P	0.56788	0.806;0.52	T	0.57271	-0.7840	10	0.12103	T	0.63	.	5.5345	0.17003	0.0731:0.2456:0.5384:0.1429	.	1097;598	E9PC11;Q6V1P9	.;PCD23_HUMAN	F	598;1097;1097	ENSP00000349768:L598F;ENSP00000345062:L1097F	ENSP00000345062:L1097F	L	-	1	0	DCHS2	155473521	0.254000	0.23992	0.619000	0.29118	0.073000	0.16967	0.751000	0.26348	0.647000	0.30713	0.655000	0.94253	CTC		0.562	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		10	79	0	0	0	1	0	10	79				
NPR3	4883	broad.mit.edu	37	5	32724823	32724823	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:32724823C>T	ENST00000265074.8	+	2	1132	c.789C>T	c.(787-789)agC>agT	p.S263S	NPR3_ENST00000415685.2_Silent_p.S47S|NPR3_ENST00000434067.2_Silent_p.S47S|NPR3_ENST00000415167.2_Silent_p.S263S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	263					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGTGTGCGAGCAGTGACACCA	0.537																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(787-789)agC>agT		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						176.0	179.0	178.0					5																	32724823		2193	4292	6485	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32724823C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.789C>T	5.37:g.32724823C>T						NPR3_ENST00000415685.2_Silent_p.S47S|NPR3_ENST00000434067.2_Silent_p.S47S|NPR3_ENST00000415167.2_Silent_p.S263S	p.S263S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			2	1132	+			263					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.789C>T	CCDS56357.1																																																																																				0.537	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	53	0	0	0	1	0	8	53				
FREM2	341640	broad.mit.edu	37	13	39264296	39264296	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:39264296G>A	ENST00000280481.7	+	1	3031	c.2815G>A	c.(2815-2817)Gaa>Aaa	p.E939K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	939					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)		AGTGGATGATGAAGTGCCCAT	0.493																																						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.(2815-2817)Gaa>Aaa		FRAS1 related extracellular matrix protein 2							69.0	60.0	63.0					13																	39264296		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264296G>A	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.2815G>A	13.37:g.39264296G>A	ENSP00000280481:p.Glu939Lys						p.E939K	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)	1	3031	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	939					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2815G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348858	0.41599	.	.	ENSG00000150893	ENST00000280481	T	0.22336	1.96	5.59	5.59	0.84812	.	0.049447	0.85682	D	0.000000	T	0.32133	0.0819	M	0.83483	2.645	0.80722	D	1	B	0.14438	0.01	B	0.17722	0.019	T	0.20840	-1.0263	10	0.19147	T	0.46	.	19.6034	0.95572	0.0:0.0:1.0:0.0	.	939	Q5SZK8	FREM2_HUMAN	K	939	ENSP00000280481:E939K	ENSP00000280481:E939K	E	+	1	0	FREM2	38162296	1.000000	0.71417	0.012000	0.15200	0.012000	0.07955	7.988000	0.88194	2.645000	0.89757	0.655000	0.94253	GAA		0.493	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	62	0	0	0	1	0	4	62				
TANGO6	79613	broad.mit.edu	37	16	68909060	68909060	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:68909060G>A	ENST00000261778.1	+	5	1010	c.998G>A	c.(997-999)gGa>gAa	p.G333E		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	333						integral component of membrane (GO:0016021)											GTGCCAGCGGGAGCAGCTGGT	0.473																																						ENST00000261778.1																			0											c.(997-999)gGa>gAa		transport and golgi organization 6 homolog (Drosophila)							78.0	88.0	85.0					16																	68909060		2134	4251	6385	SO:0001583	missense	79613							g.chr16:68909060G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.998G>A	16.37:g.68909060G>A	ENSP00000261778:p.Gly333Glu						p.G333E	NM_024562.1	NP_078838.1					5	1010	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.998G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988190	0.53934	.	.	ENSG00000103047	ENST00000261778	T	0.69806	-0.43	4.94	4.94	0.65067	.	.	.	.	.	T	0.79221	0.4409	M	0.66939	2.045	0.46376	D	0.999018	D	0.76494	0.999	D	0.68765	0.96	T	0.77202	-0.2674	9	0.32370	T	0.25	-8.1136	17.3079	0.87200	0.0:0.0:1.0:0.0	.	333	Q9C0B7	TMCO7_HUMAN	E	333	ENSP00000261778:G333E	ENSP00000261778:G333E	G	+	2	0	TMCO7	67466561	1.000000	0.71417	0.969000	0.41365	0.107000	0.19398	5.015000	0.64035	2.437000	0.82529	0.591000	0.81541	GGA		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		6	59	0	0	0	1	0	6	59				
RSPO2	340419	broad.mit.edu	37	8	108970488	108970488	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:108970488C>T	ENST00000276659.5	-	5	1056	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	RSPO2_ENST00000517939.1_Missense_Mutation_p.E79K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E82K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E82K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	146	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGACCAACTTCACATCCTTCT	0.358																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(436-438)Gaa>Aaa		R-spondin 2							99.0	96.0	97.0					8																	108970488		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970488C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.436G>A	8.37:g.108970488C>T	ENSP00000276659:p.Glu146Lys					RSPO2_ENST00000517939.1_Missense_Mutation_p.E79K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E82K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E82K	p.E146K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1056	-			146			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.436G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164609	0.94727	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	L	0.52011	1.625	0.80722	D	1	D;D	0.67145	0.996;0.969	D;P	0.76071	0.987;0.648	D	0.83981	0.0332	10	0.32370	T	0.25	-1.6025	20.5827	0.99408	0.0:1.0:0.0:0.0	.	146;82	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	K	79;82;82;146;79;79	ENSP00000428940:E79K;ENSP00000427937:E82K;ENSP00000367698:E82K;ENSP00000276659:E146K;ENSP00000428614:E79K;ENSP00000430485:E79K	ENSP00000276659:E146K	E	-	1	0	RSPO2	109039664	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.707000	0.68370	2.941000	0.99782	0.655000	0.94253	GAA		0.358	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		5	102	0	0	0	1	0	5	102				
GCLC	2729	broad.mit.edu	37	6	53370645	53370645	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:53370645G>A	ENST00000229416.6	-	11	1729	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	416					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TCTGAGTTTGGAGGAGGGGGC	0.423																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1246-1248)Cca>Tca		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						140.0	130.0	133.0					6																	53370645		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53370645G>A	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1246C>T	6.37:g.53370645G>A	ENSP00000229416:p.Pro416Ser					RP1-27K12.4_ENST00000508884.1_RNA	p.P416S	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			11	1729	-	Lung NSC(77;0.0137)		416					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.1246C>T	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015401	0.75161	.	.	ENSG00000001084	ENST00000229416	T	0.71934	-0.61	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	M	0.71920	2.185	0.80722	D	1	P	0.48407	0.91	P	0.49999	0.628	T	0.71656	-0.4527	10	0.38643	T	0.18	.	20.0627	0.97684	0.0:0.0:1.0:0.0	.	416	P48506	GSH1_HUMAN	S	416	ENSP00000229416:P416S	ENSP00000229416:P416S	P	-	1	0	GCLC	53478604	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.816000	0.96949	0.563000	0.77884	CCA		0.423	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			6	126	0	0	0	1	0	6	126				
DDX26B	203522	broad.mit.edu	37	X	134706908	134706908	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:134706908G>C	ENST00000370752.4	+	11	1790	c.1456G>C	c.(1456-1458)Gaa>Caa	p.E486Q	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	486										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TAGACTGACAGAATTGAACAC	0.343																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1456-1458)Gaa>Caa		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							75.0	77.0	76.0					X																	134706908		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134706908G>C	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1456G>C	X.37:g.134706908G>C	ENSP00000359788:p.Glu486Gln					DDX26B_ENST00000493637.1_3'UTR	p.E486Q	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			11	1790	+	Acute lymphoblastic leukemia(192;6.56e-05)		486					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1456G>C	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778785	0.70107	.	.	ENSG00000165359	ENST00000370752	T	0.37058	1.22	5.35	5.35	0.76521	.	0.244954	0.47852	D	0.000218	T	0.48077	0.1480	L	0.57536	1.79	0.47153	D	0.999331	P;D	0.56968	0.948;0.978	P;P	0.55260	0.673;0.772	T	0.32295	-0.9912	10	0.14656	T	0.56	-9.5973	17.2443	0.87023	0.0:0.0:1.0:0.0	.	486;486	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	Q	486	ENSP00000359788:E486Q	ENSP00000359788:E486Q	E	+	1	0	DDX26B	134534574	1.000000	0.71417	0.996000	0.52242	0.602000	0.36980	6.382000	0.73167	2.370000	0.80446	0.594000	0.82650	GAA		0.343	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		4	50	0	0	0	1	0	4	50				
CLIC1	1192	broad.mit.edu	37	6	31701363	31701363	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:31701363G>A	ENST00000375780.2	-	5	934	c.362C>T	c.(361-363)tCa>tTa	p.S121L	DDAH2_ENST00000375792.3_5'Flank|CLIC1_ENST00000375779.2_Missense_Mutation_p.S121L|CLIC1_ENST00000375784.3_Missense_Mutation_p.S121L|CLIC1_ENST00000395892.1_Missense_Mutation_p.S121L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	121	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TGCTGGGTTTGAATTCTTGAT	0.537																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(361-363)tCa>tTa		chloride intracellular channel 1							52.0	56.0	55.0					6																	31701363		1511	2709	4220	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701363G>A	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.362C>T	6.37:g.31701363G>A	ENSP00000364935:p.Ser121Leu					CLIC1_ENST00000375779.2_Missense_Mutation_p.S121L|CLIC1_ENST00000395892.1_Missense_Mutation_p.S121L|CLIC1_ENST00000375784.3_Missense_Mutation_p.S121L	p.S121L			O00299	CLIC1_HUMAN			5	934	-			121			GST C-terminal.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.362C>T	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028455	0.75390	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.35	5.35	0.76521	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	U	0.000009	D	0.89921	0.6855	M	0.72118	2.19	0.80722	D	1	B	0.19583	0.037	B	0.15484	0.013	D	0.87587	0.2488	10	0.46703	T	0.11	-7.3113	16.5705	0.84611	0.0:0.0:1.0:0.0	.	121	O00299	CLIC1_HUMAN	L	121	ENSP00000364940:S121L;ENSP00000364934:S121L;ENSP00000364935:S121L;ENSP00000379229:S121L	ENSP00000364934:S121L	S	-	2	0	CLIC1	31809342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.422000	0.80217	2.504000	0.84457	0.557000	0.71058	TCA		0.537	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		5	51	0	0	0	1	0	5	51				
PEX5	5830	broad.mit.edu	37	12	7344263	7344263	+	Missense_Mutation	SNP	G	G	A	rs375689941		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:7344263G>A	ENST00000455147.2	+	6	995	c.415G>A	c.(415-417)Gac>Aac	p.D139N	PEX5_ENST00000434354.2_Missense_Mutation_p.D154N|PEX5_ENST00000420616.2_Missense_Mutation_p.D139N|RP11-273B20.3_ENST00000543061.1_RNA|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000266564.3_Missense_Mutation_p.D139N|PEX5_ENST00000266563.5_Missense_Mutation_p.D139N|PEX5_ENST00000412720.2_Missense_Mutation_p.D160N|PEX5_ENST00000545220.1_3'UTR	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	139					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TAATGAGACTGACTGGTCCCA	0.463																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(415-417)Gac>Aac		peroxisomal biogenesis factor 5							105.0	102.0	103.0					12																	7344263		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7344263G>A	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.415G>A	12.37:g.7344263G>A	ENSP00000400647:p.Asp139Asn					PEX5_ENST00000266564.3_Missense_Mutation_p.D139N|PEX5_ENST00000412720.2_Missense_Mutation_p.D160N|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000420616.2_Missense_Mutation_p.D139N|PEX5_ENST00000434354.2_Missense_Mutation_p.D154N|PEX5_ENST00000455147.2_Missense_Mutation_p.D139N	p.D139N	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			5	598	+			139					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.415G>A	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516192	0.85495	.	.	ENSG00000139197	ENST00000536883;ENST00000542539;ENST00000455147;ENST00000266563;ENST00000543974;ENST00000434354;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000537873;ENST00000266564;ENST00000545845	D;D;D;D;D;D;D	0.87966	-2.3;-2.28;-2.32;-2.3;-2.31;-2.13;-2.31	4.14	4.14	0.48551	.	0.049546	0.85682	D	0.000000	D	0.90710	0.7085	L	0.48642	1.525	0.58432	D	0.999994	D;P;D;B;P	0.89917	1.0;0.83;0.992;0.39;0.675	D;B;P;B;B	0.87578	0.998;0.402;0.786;0.208;0.188	D	0.89795	0.3971	10	0.34782	T	0.22	.	16.5906	0.84764	0.0:0.0:1.0:0.0	.	160;154;139;139;139	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	N	56;139;139;139;56;154;127;139;160;154;139;139;56	ENSP00000400647:D139N;ENSP00000266563:D139N;ENSP00000407401:D154N;ENSP00000410159:D139N;ENSP00000391601:D160N;ENSP00000379877:D154N;ENSP00000266564:D139N	ENSP00000266563:D139N	D	+	1	0	PEX5	7235530	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.292000	0.89930	2.133000	0.65898	0.491000	0.48974	GAC		0.463	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		10	88	0	0	0	1	0	10	88				
DMGDH	29958	broad.mit.edu	37	5	78359574	78359574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:78359574C>T	ENST00000255189.3	-	2	166	c.138G>A	c.(136-138)tgG>tgA	p.W46*	DMGDH_ENST00000540686.1_5'UTR|DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E2K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	46					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTCTGTCTTTCCATTGTGTTT	0.463																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(136-138)tgG>tgA		dimethylglycine dehydrogenase							278.0	228.0	245.0					5																	78359574		2203	4300	6503	SO:0001587	stop_gained	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78359574C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.138G>A	5.37:g.78359574C>T	ENSP00000255189:p.Trp46*					DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E2K|DMGDH_ENST00000540686.1_5'UTR	p.W46*	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	2	166	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	46					B2RBN0|B4E1J9	Nonsense_Mutation	SNP	ENST00000255189.3	37	c.138G>A	CCDS4044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.254910|5.254910	0.95336|0.95336	.|.	.|.	ENSG00000132837|ENSG00000132837	ENST00000380311|ENST00000255189	T|.	0.74947|.	-0.89|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.061121	.|0.64402	.|D	.|0.000001	T|.	0.73931|.	0.3650|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	P|.	0.58520|.	0.84|.	T|.	0.69510|.	-0.5126|.	8|.	0.87932|0.33940	D|T	0|0.23	.|.	19.7963|19.7963	0.96484|0.96484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|.	F8W6P8|.	.|.	K|X	2|46	ENSP00000369667:E2K|.	ENSP00000369667:E2K|ENSP00000255189:W46X	E|W	-|-	1|3	0|0	DMGDH|DMGDH	78395330|78395330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	7.458000|7.458000	0.80787|0.80787	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GAA|TGG		0.463	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		7	133	0	0	0	1	0	7	133				
TTC17	55761	broad.mit.edu	37	11	43436179	43436179	+	Missense_Mutation	SNP	C	C	G	rs112155488		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:43436179C>G	ENST00000039989.4	+	16	2118	c.2104C>G	c.(2104-2106)Ctg>Gtg	p.L702V	TTC17_ENST00000299240.6_Missense_Mutation_p.L702V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	702					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTACCTTGCTCTGAAGAATAT	0.403																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2104-2106)Ctg>Gtg		tetratricopeptide repeat domain 17							121.0	133.0	129.0					11																	43436179		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43436179C>G	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2104C>G	11.37:g.43436179C>G	ENSP00000039989:p.Leu702Val					TTC17_ENST00000299240.6_Missense_Mutation_p.L702V|TTC17_ENST00000526774.1_3'UTR	p.L702V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			16	2118	+			702					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2104C>G	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984702	0.53934	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.64438	-0.1;-0.1	5.3	1.35	0.21983	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.065695	0.64402	D	0.000007	T	0.57431	0.2053	L	0.48877	1.53	0.27694	N	0.94602	P;P;P	0.49696	0.927;0.904;0.911	P;P;P	0.49140	0.497;0.601;0.466	T	0.52487	-0.8569	10	0.27082	T	0.32	-7.1489	10.1588	0.42838	0.0:0.7274:0.0:0.2726	.	702;702;702	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	702	ENSP00000299240:L702V;ENSP00000039989:L702V	ENSP00000039989:L702V	L	+	1	2	TTC17	43392755	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.176000	0.31957	0.250000	0.21479	-0.222000	0.12452	CTG		0.403	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		13	221	0	0	0	1	0	13	221				
TG	7038	broad.mit.edu	37	8	133894785	133894785	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:133894785G>A	ENST00000220616.4	+	7	857	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	TG_ENST00000377869.1_Missense_Mutation_p.E273K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	273	Thyroglobulin type-1 3. {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)		p.E273*(1)		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)		CACCTTCACTGAAACCACCCT	0.463																																						ENST00000220616.4																			1	Substitution - Nonsense(1)	p.E273*(1)	breast(1)	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.(817-819)Gaa>Aaa		thyroglobulin							193.0	176.0	182.0					8																	133894785		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133894785G>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.817G>A	8.37:g.133894785G>A	ENSP00000220616:p.Glu273Lys					TG_ENST00000377869.1_Missense_Mutation_p.E273K	p.E273K	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)	7	857	+	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)	273			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.817G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652134	0.88056	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.67865	-0.29;-0.28	5.75	4.86	0.63082	.	0.179253	0.38897	N	0.001535	T	0.67411	0.2890	L	0.60455	1.87	0.33396	D	0.576695	P	0.48294	0.908	P	0.44422	0.449	T	0.79669	-0.1707	10	0.87932	D	0	.	15.5312	0.75964	0.0:0.1433:0.8567:0.0	.	273	P01266	THYG_HUMAN	K	273	ENSP00000367100:E273K;ENSP00000220616:E273K	ENSP00000220616:E273K	E	+	1	0	TG	133963967	1.000000	0.71417	0.711000	0.30485	0.993000	0.82548	3.493000	0.53266	1.387000	0.46486	0.563000	0.77884	GAA		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	210	0	0	0	1	0	8	210				
RXFP2	122042	broad.mit.edu	37	13	32376538	32376538	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:32376538C>T	ENST00000298386.2	+	18	2332	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	RXFP2_ENST00000380314.1_Missense_Mutation_p.S730F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	754					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAACCAGTTTCCTAGCAATCA	0.403																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(2260-2262)tCc>tTc		relaxin/insulin-like family peptide receptor 2							146.0	160.0	155.0					13																	32376538		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32376538C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2261C>T	13.37:g.32376538C>T	ENSP00000298386:p.Ser754Phe					RXFP2_ENST00000380314.1_Missense_Mutation_p.S730F	p.S754F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	18	2332	+		Lung SC(185;0.0262)	754					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.2261C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828058	0.50845	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72835	-0.69;-0.61	5.78	3.85	0.44370	.	0.270716	0.26776	N	0.022559	T	0.52141	0.1716	N	0.22421	0.69	0.09310	N	1	B;B	0.30406	0.278;0.278	B;B	0.24541	0.033;0.054	T	0.51647	-0.8679	10	0.87932	D	0	.	7.8008	0.29174	0.3792:0.4908:0.13:0.0	.	730;754	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	F	730;754	ENSP00000369670:S730F;ENSP00000298386:S754F	ENSP00000298386:S754F	S	+	2	0	RXFP2	31274538	0.003000	0.15002	0.850000	0.33497	0.809000	0.45718	0.845000	0.27668	1.419000	0.47118	0.655000	0.94253	TCC		0.403	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		7	398	0	0	0	1	0	7	398				
CEBPA	1050	broad.mit.edu	37	19	33792385	33792385	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:33792385C>T	ENST00000498907.2	-	1	1085	c.936G>A	c.(934-936)caG>caA	p.Q312Q	CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	312	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q312_K313insQ(19)|p.Q312del(3)|p.H200_K352>Q(1)|p.?(1)|p.K313fs*6(1)|p.N307_Q312del(1)|p.Q312_K313insQRNVETQQ(1)|p.Q312_K313insQQ(1)|p.K313del(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CCAGCACCTTCTGCTGCGTCT	0.647			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													ENST00000498907.2				Dom	yes		19	19q13.1	1050	"""Mis, N, F"""	"""CCAAT/enhancer binding protein (C/EBP), alpha"""			L			"""AML, MDS"""		29	Insertion - In frame(21)|Deletion - In frame(5)|Unknown(1)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	p.Q312_K313insQ(19)|p.Q312del(3)|p.H200_K352>Q(1)|p.?(1)|p.K313fs*6(1)|p.N307_Q312del(1)|p.Q312_K313insQRNVETQQ(1)|p.Q312_K313insQQ(1)|p.K313del(1)	haematopoietic_and_lymphoid_tissue(29)	cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920						c.(934-936)caG>caA		CCAAT/enhancer binding protein (C/EBP), alpha							52.0	53.0	52.0					19																	33792385		2203	4300	6503	SO:0001819	synonymous_variant	1050	Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation	Familial Cancer Database	Familial AML	cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:33792385C>T	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.936G>A	19.37:g.33792385C>T						CTD-2540B15.7_ENST00000587312.1_RNA	p.Q312Q	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN			1	1085	-	Esophageal squamous(110;0.137)		312					A7LNP2|P78319|Q05CA4	Silent	SNP	ENST00000498907.2	37	c.936G>A	CCDS54243.1																																																																																				0.647	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364		6	81	0	0	0	1	0	6	81				
CHD3	1107	broad.mit.edu	37	17	7808456	7808456	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:7808456G>C	ENST00000330494.7	+	26	4261	c.4111G>C	c.(4111-4113)Gat>Cat	p.D1371H	CHD3_ENST00000380358.4_Missense_Mutation_p.D1430H|CHD3_ENST00000358181.4_Missense_Mutation_p.D1371H|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1371					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGAGGAGGAGGATGAAGACTT	0.537																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4288-4290)Gat>Cat		chromodomain helicase DNA binding protein 3							183.0	154.0	164.0					17																	7808456		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7808456G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4111G>C	17.37:g.7808456G>C	ENSP00000332628:p.Asp1371His					CHD3_ENST00000358181.4_Missense_Mutation_p.D1371H|CHD3_ENST00000330494.7_Missense_Mutation_p.D1371H	p.D1430H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			26	4289	+		Prostate(122;0.202)	1371					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.4288G>C	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826809	0.71143	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91792	-2.91;-2.85;-2.85	4.9	4.9	0.64082	Domain of unknown function DUF1086 (1);	0.000000	0.47852	D	0.000208	D	0.95881	0.8659	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.96301	0.9221	10	0.87932	D	0	-23.7263	18.2591	0.90028	0.0:0.0:1.0:0.0	.	1371;1371;1430	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	1430;1371;1371	ENSP00000369716:D1430H;ENSP00000350907:D1371H;ENSP00000332628:D1371H	ENSP00000332628:D1371H	D	+	1	0	CHD3	7749181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.539000	0.85634	0.561000	0.74099	GAT		0.537	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	93	0	0	0	1	0	4	93				
PROX2	283571	broad.mit.edu	37	14	75323591	75323591	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:75323591G>A	ENST00000445876.1	-	4	1520	c.1521C>T	c.(1519-1521)gtC>gtT	p.V507V	PROX2_ENST00000556084.2_Silent_p.V280V|RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556489.2_Silent_p.V507V			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	507	Prospero-like.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGGGATTTGTGACACCATCTG	0.418																																						ENST00000556084.2																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(838-840)gtC>gtT		prospero homeobox 2							124.0	122.0	123.0					14																	75323591		1865	4107	5972	SO:0001819	synonymous_variant	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75323591G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1521C>T	14.37:g.75323591G>A						PROX2_ENST00000556489.2_Silent_p.V507V|PROX2_ENST00000445876.1_Silent_p.V507V	p.V280V	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	2	839	-			507					C9J5W1|Q8N9Q3	Silent	SNP	ENST00000445876.1	37	c.840C>T	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	6.701	0.498077	0.12762	.	.	ENSG00000119608	ENST00000556084	.	.	.	5.67	3.65	0.41850	.	.	.	.	.	T	0.56702	0.2003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53165	-0.8477	4	.	.	.	.	7.8061	0.29202	0.1528:0.2281:0.6191:0.0	.	.	.	.	L	280	.	.	S	-	2	0	PROX2	74393344	0.969000	0.33509	0.994000	0.49952	0.812000	0.45895	0.199000	0.17237	1.298000	0.44778	-0.345000	0.07892	TCA		0.418	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	144	0	0	0	1	0	8	144				
HAVCR2	84868	broad.mit.edu	37	5	156533909	156533909	+	Silent	SNP	G	G	A	rs200619257		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:156533909G>A	ENST00000307851.4	-	2	853	c.123C>T	c.(121-123)acC>acT	p.T41T	HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Silent_p.T41T|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	41	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	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)			GGGCGGCTGGGGTGTAGAAGC	0.577																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(121-123)acC>acT		hepatitis A virus cellular receptor 2							96.0	95.0	95.0					5																	156533909		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156533909G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.123C>T	5.37:g.156533909G>A						CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.T41T|HAVCR2_ENST00000517358.1_5'UTR	p.T41T	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	853	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	41			Ig-like V-type.		B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.123C>T	CCDS4333.1																																																																																				0.577	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	130	0	0	0	1	0	5	130				
DCLK1	9201	broad.mit.edu	37	13	36384994	36384994	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:36384994G>C	ENST00000360631.3	-	12	1877	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	DCLK1_ENST00000255448.4_Missense_Mutation_p.P556A|DCLK1_ENST00000379893.1_Missense_Mutation_p.P249A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGATTTCTGGAGCCACGTAT	0.483																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1666-1668)Cca>Gca		doublecortin-like kinase 1							175.0	175.0	175.0					13																	36384994		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36384994G>C	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1666C>G	13.37:g.36384994G>C	ENSP00000353846:p.Pro556Ala					DCLK1_ENST00000379893.1_Missense_Mutation_p.P249A|DCLK1_ENST00000360631.3_Missense_Mutation_p.P556A	p.P556A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	12	1877	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	556			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1666C>G		.	.	.	.	.	.	.	.	.	.	G	18.98	3.737394	0.69304	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	D;D;D	0.82711	-1.64;-1.64;-1.64	5.18	5.18	0.71444	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	D	0.95290	0.8472	H	0.98901	4.365	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	0.97276	0.9914	10	0.87932	D	0	.	19.0516	0.93049	0.0:0.0:1.0:0.0	.	249;556;556;249	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	A	248;556;556;249;538	ENSP00000255448:P556A;ENSP00000353846:P556A;ENSP00000369223:P249A	ENSP00000255448:P556A	P	-	1	0	DCLK1	35282994	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	9.298000	0.96132	2.572000	0.86782	0.655000	0.94253	CCA		0.483	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		15	223	0	0	0	1	0	15	223				
OR4C6	219432	broad.mit.edu	37	11	55433207	55433207	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:55433207G>A	ENST00000314259.3	+	1	594	c.565G>A	c.(565-567)Gac>Aac	p.D189N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGCCTGCACGGACACCCACAT	0.433																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(565-567)Gac>Aac		olfactory receptor, family 4, subfamily C, member 6							136.0	122.0	126.0					11																	55433207		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433207G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.565G>A	11.37:g.55433207G>A	ENSP00000324769:p.Asp189Asn						p.D189N	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	594	+			189					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.565G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606586	0.28623	.	.	ENSG00000181903	ENST00000314259	T	0.00231	8.49	4.07	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.179356	0.26528	N	0.023879	T	0.00300	0.0009	L	0.58101	1.795	0.09310	N	0.999992	P	0.41848	0.763	P	0.51453	0.67	T	0.38714	-0.9648	10	0.51188	T	0.08	.	7.8347	0.29363	0.2916:0.0:0.7084:0.0	.	189	Q8NH72	OR4C6_HUMAN	N	189	ENSP00000324769:D189N	ENSP00000324769:D189N	D	+	1	0	OR4C6	55189783	0.709000	0.27886	0.488000	0.27440	0.044000	0.14063	1.042000	0.30303	0.214000	0.20742	-0.284000	0.09977	GAC		0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		31	182	0	0	0	1	0	31	182				
DMXL2	23312	broad.mit.edu	37	15	51791702	51791702	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:51791702G>C	ENST00000251076.5	-	18	4006	c.3719C>G	c.(3718-3720)tCt>tGt	p.S1240C	DMXL2_ENST00000543779.2_Missense_Mutation_p.S1240C|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1240						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCAACAGAAGATACCAAGTC	0.418																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3718-3720)tCt>tGt		Dmx-like 2							186.0	161.0	170.0					15																	51791702		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791702G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3719C>G	15.37:g.51791702G>C	ENSP00000251076:p.Ser1240Cys					DMXL2_ENST00000543779.2_Missense_Mutation_p.S1240C|DMXL2_ENST00000449909.3_Intron	p.S1240C	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	4006	-			1240					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3719C>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666770	0.67814	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.26518	1.73;1.73	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.54596	-0.8270	10	0.87932	D	0	.	19.6332	0.95719	0.0:0.0:1.0:0.0	.	1240;1240	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	C	1240	ENSP00000251076:S1240C;ENSP00000441858:S1240C	ENSP00000251076:S1240C	S	-	2	0	DMXL2	49578994	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.441000	0.97557	2.645000	0.89757	0.591000	0.81541	TCT		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		9	134	0	0	0	1	0	9	134				
EXOC2	55770	broad.mit.edu	37	6	549252	549252	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:549252G>C	ENST00000230449.4	-	22	2296	c.2161C>G	c.(2161-2163)Cta>Gta	p.L721V	EXOC2_ENST00000448181.3_Missense_Mutation_p.L316V	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	721					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TGACGTTCTAGATAGCAGCAA	0.378																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2161-2163)Cta>Gta		exocyst complex component 2							169.0	162.0	164.0					6																	549252		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:549252G>C	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2161C>G	6.37:g.549252G>C	ENSP00000230449:p.Leu721Val					EXOC2_ENST00000448181.3_Missense_Mutation_p.L316V	p.L721V	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	22	2296	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	721					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.2161C>G	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	3.011	-0.203941	0.06180	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.51574	0.7	5.41	4.53	0.55603	.	0.071649	0.64402	D	0.000017	T	0.22322	0.0538	L	0.48362	1.52	0.51233	D	0.999917	B	0.12630	0.006	B	0.15052	0.012	T	0.08785	-1.0705	10	0.38643	T	0.18	.	8.33	0.32180	0.0794:0.0:0.7661:0.1545	.	721	Q96KP1	EXOC2_HUMAN	V	721;316	ENSP00000230449:L721V	ENSP00000230449:L721V	L	-	1	2	EXOC2	494252	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	4.683000	0.61679	1.235000	0.43724	0.655000	0.94253	CTA		0.378	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		13	155	0	0	0	1	0	13	155				
DRICH1	51233	broad.mit.edu	37	22	23974145	23974145	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:23974145G>A	ENST00000317749.5	-	1	363	c.66C>T	c.(64-66)ccC>ccT	p.P22P	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		22										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ATTCATAACAGGGTGCGTCCT	0.547																																						ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(64-66)ccC>ccT		chromosome 22 open reading frame 43							104.0	106.0	105.0					22																	23974145		1972	4148	6120	SO:0001819	synonymous_variant	51233							g.chr22:23974145G>A																												ENST00000317749.5:c.66C>T	22.37:g.23974145G>A						AP000346.2_ENST00000390329.2_RNA	p.P22P	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			1	363	-			22					Q6ICJ8|Q6P4I3|Q9NU31	Silent	SNP	ENST00000317749.5	37	c.66C>T	CCDS42985.1																																																																																				0.547	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			5	120	0	0	0	1	0	5	120				
EIF2AK3	9451	broad.mit.edu	37	2	88913261	88913261	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:88913261G>A	ENST00000303236.3	-	2	720	c.419C>T	c.(418-420)tCc>tTc	p.S140F	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	140					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GCTAAGGCTGGATGACACCAA	0.398																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(418-420)tCc>tTc		eukaryotic translation initiation factor 2-alpha kinase 3							124.0	110.0	114.0					2																	88913261		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88913261G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.419C>T	2.37:g.88913261G>A	ENSP00000307235:p.Ser140Phe					EIF2AK3_ENST00000419748.1_5'UTR	p.S140F	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			2	720	-			140					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.419C>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602025	0.87055	.	.	ENSG00000172071	ENST00000303236	T	0.30981	1.51	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67264	-0.5714	10	0.87932	D	0	-11.7133	19.1382	0.93436	0.0:0.0:1.0:0.0	.	140	Q9NZJ5	E2AK3_HUMAN	F	140	ENSP00000307235:S140F	ENSP00000307235:S140F	S	-	2	0	EIF2AK3	88694376	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.348000	0.97062	2.507000	0.84556	0.655000	0.94253	TCC		0.398	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		5	125	0	0	0	1	0	5	125				
CYP27B1	1594	broad.mit.edu	37	12	58160810	58160810	+	Silent	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:58160810G>C	ENST00000228606.4	-	1	224	c.15C>G	c.(13-15)ctC>ctG	p.L5L	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	5					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGGCGTACTTGAGGGTCTGGG	0.587																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(13-15)ctC>ctG		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						75.0	88.0	83.0					12																	58160810		2203	4300	6503	SO:0001819	synonymous_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160810G>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.15C>G	12.37:g.58160810G>C						RP11-571M6.13_ENST00000546609.1_RNA	p.L5L	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	224	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		5					B2RC61|Q548T3	Silent	SNP	ENST00000228606.4	37	c.15C>G	CCDS8954.1																																																																																				0.587	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		7	163	0	0	0	1	0	7	163				
RIF1	55183	broad.mit.edu	37	2	152301876	152301876	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:152301876G>A	ENST00000243326.5	+	18	2494	c.2011G>A	c.(2011-2013)Gcc>Acc	p.A671T	RIF1_ENST00000430328.2_Missense_Mutation_p.A671T|RIF1_ENST00000453091.2_Missense_Mutation_p.A671T|RIF1_ENST00000444746.2_Missense_Mutation_p.A671T|RIF1_ENST00000428287.2_Missense_Mutation_p.A671T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAAGGTGATGCCTTAGAACA	0.313																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2011-2013)Gcc>Acc		RAP1 interacting factor homolog (yeast)							143.0	139.0	140.0					2																	152301876		2203	4299	6502	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152301876G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2011G>A	2.37:g.152301876G>A	ENSP00000243326:p.Ala671Thr					RIF1_ENST00000444746.2_Missense_Mutation_p.A671T|RIF1_ENST00000430328.2_Missense_Mutation_p.A671T|RIF1_ENST00000428287.2_Missense_Mutation_p.A671T|RIF1_ENST00000453091.2_Missense_Mutation_p.A671T	p.A671T			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	18	2494	+			671					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2011G>A	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.296457|5.296457	0.95574|0.95574	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98835|.	-5.17;-5.17;-5.17;-5.17;-5.17|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.052789|.	0.85682|.	D|.	0.000000|.	T|T	0.74061|0.74061	0.3667|0.3667	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	P;P|.	0.52061|.	0.862;0.95|.	B;P|.	0.50231|.	0.432;0.635|.	T|T	0.71748|0.71748	-0.4499|-0.4499	10|5	0.72032|.	D|.	0.01|.	-0.6889|-0.6889	19.0378|19.0378	0.92986|0.92986	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	671;671|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	T|Y	671|662	ENSP00000390181:A671T;ENSP00000414615:A671T;ENSP00000415691:A671T;ENSP00000243326:A671T;ENSP00000416123:A671T|.	ENSP00000243326:A671T|.	A|C	+|+	1|2	0|0	RIF1|RIF1	152010122|152010122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.316000|8.316000	0.89985|0.89985	2.669000|2.669000	0.90835|0.90835	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.313	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			6	63	0	0	0	1	0	6	63				
ZNF528	84436	broad.mit.edu	37	19	52918855	52918855	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:52918855C>T	ENST00000360465.3	+	7	1176	c.750C>T	c.(748-750)ttC>ttT	p.F250F	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	250					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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAAGCTCTTCAGTAGCAATT	0.398																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(748-750)ttC>ttT		zinc finger protein 528							83.0	83.0	83.0					19																	52918855		2203	4300	6503	SO:0001819	synonymous_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918855C>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.750C>T	19.37:g.52918855C>T						ZNF528_ENST00000391788.2_3'UTR	p.F250F	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1176	+			250					B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	c.750C>T	CCDS33091.1																																																																																				0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		6	129	0	0	0	1	0	6	129				
SPATC1	375686	broad.mit.edu	37	8	145094865	145094865	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:145094865G>A	ENST00000377470.3	+	2	369	c.267G>A	c.(265-267)gtG>gtA	p.V89V	SPATC1_ENST00000447830.2_Silent_p.V89V	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	89						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGAAGAAGTGGGGATCATGG	0.637																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(265-267)gtG>gtA		spermatogenesis and centriole associated 1							78.0	83.0	81.0					8																	145094865		2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145094865G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.267G>A	8.37:g.145094865G>A						SPATC1_ENST00000447830.2_Silent_p.V89V	p.V89V	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	369	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		89					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.267G>A	CCDS6413.2																																																																																				0.637	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		11	108	0	0	0	1	0	11	108				
NXF5	55998	broad.mit.edu	37	X	101092466	101092466	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:101092466C>G	ENST00000361708.2	-	15	1439	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H	NXF5_ENST00000537026.1_Missense_Mutation_p.Q360H|NXF5_ENST00000473265.2_Missense_Mutation_p.Q360H			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	360	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTACCCACCTCTGGCTCTCTG	0.547																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(1078-1080)caG>caC		nuclear RNA export factor 5							205.0	182.0	190.0					X																	101092466		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092466C>G	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.1080G>C	X.37:g.101092466C>G	ENSP00000355286:p.Gln360His					NXF5_ENST00000473265.2_Missense_Mutation_p.Q360H|NXF5_ENST00000361708.2_Missense_Mutation_p.Q360H	p.Q360H	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN			15	1439	-			360			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.1080G>C		.	.	.	.	.	.	.	.	.	.	.	8.692	0.907748	0.17833	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.46063	0.88;0.88;0.9	2.11	0.254	0.15557	.	.	.	.	.	T	0.22975	0.0555	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21621	-1.0240	9	0.87932	D	0	.	3.245	0.06794	0.0:0.4174:0.361:0.2216	.	360	A2RRM0	.	H	360	ENSP00000442401:Q360H;ENSP00000426978:Q360H;ENSP00000355286:Q360H	ENSP00000263032:Q360H	Q	-	3	2	NXF5	100979122	0.000000	0.05858	0.001000	0.08648	0.760000	0.43138	-0.518000	0.06267	-0.020000	0.14032	0.273000	0.19326	CAG		0.547	NXF5-201	KNOWN	basic	protein_coding	protein_coding				18	134	0	0	0	1	0	18	134				
LRRC37BP1	147172	broad.mit.edu	37	17	28961071	28961071	+	RNA	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:28961071G>C	ENST00000417404.1	+	0	1329									leucine rich repeat containing 37B pseudogene 1																		CAATATCTGTGACTGTCATAC	0.254																																						ENST00000417404.1																			0																																																			147172							g.chr17:28961071G>C	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961071G>C						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1329	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.254	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		4	56	0	0	0	1	0	4	56				
GALNT7	51809	broad.mit.edu	37	4	174242759	174242759	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:174242759C>T	ENST00000265000.4	+	12	1948	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	RP11-798M19.3_ENST00000507803.1_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	622	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CATATTCCTTCAGGAAAGTGT	0.373																																						ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1864-1866)tCa>tTa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							119.0	120.0	119.0					4																	174242759		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174242759C>T	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1865C>T	4.37:g.174242759C>T	ENSP00000265000:p.Ser622Leu						p.S622L	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	12	1948	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	622			Ricin B-type lectin.		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1865C>T	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.89|16.89	3.246308|3.246308	0.59103|0.59103	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000505308|ENST00000265000	.|T	.|0.32753	.|1.44	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.126829	.|0.51477	.|D	.|0.000087	.|T	.|0.38506	.|0.1043	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|B	.|0.30146	.|0.27	.|B	.|0.28916	.|0.096	.|T	.|0.30208	.|-0.9986	.|10	.|0.44086	.|T	.|0.13	.|.	18.8143|18.8143	0.92071|0.92071	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|622	.|Q86SF2	.|GALT7_HUMAN	X|L	419|622	.|ENSP00000265000:S622L	.|ENSP00000265000:S622L	Q|S	+|+	1|2	0|0	GALNT7|GALNT7	174479334|174479334	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	3.793000|3.793000	0.55484|0.55484	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.373	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		6	93	0	0	0	1	0	6	93				
USP8	9101	broad.mit.edu	37	15	50790857	50790857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:50790857C>G	ENST00000396444.3	+	19	3441	c.3103C>G	c.(3103-3105)Ctt>Gtt	p.L1035V	USP8_ENST00000433963.1_Missense_Mutation_p.L1035V|USP8_ENST00000425032.3_Missense_Mutation_p.L929V|USP50_ENST00000530218.1_5'Flank|USP8_ENST00000307179.4_Missense_Mutation_p.L1035V|RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1035	USP.				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)		GTTAGAAAATCTTGACTTGTC	0.343																																						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.(3103-3105)Ctt>Gtt		ubiquitin specific peptidase 8							79.0	82.0	81.0					15																	50790857		2196	4294	6490	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.chr15:50790857C>G	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.3103C>G	15.37:g.50790857C>G	ENSP00000379721:p.Leu1035Val					USP8_ENST00000307179.4_Missense_Mutation_p.L1035V|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000396444.3_Missense_Mutation_p.L1035V|USP8_ENST00000425032.3_Missense_Mutation_p.L929V	p.L1035V	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	20	3603	+			1035					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.3103C>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826819	0.71143	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.79	5.79	0.91817	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.87682	2.9	0.80722	D	1	P;D	0.71674	0.93;0.998	P;D	0.78314	0.893;0.991	T	0.76184	-0.3052	10	0.87932	D	0	-15.6367	13.2503	0.60048	0.0:0.9276:0.0:0.0724	.	929;1035	B4DKA8;P40818	.;UBP8_HUMAN	V	1035;1035;1035;929;253;248	ENSP00000379721:L1035V;ENSP00000405537:L1035V;ENSP00000302239:L1035V;ENSP00000412682:L929V	ENSP00000302239:L1035V	L	+	1	0	USP8	48578149	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.509000	0.60448	2.731000	0.93534	0.591000	0.81541	CTT		0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		4	134	0	0	0	1	0	4	134				
FLG	2312	broad.mit.edu	37	1	152277637	152277637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152277637G>A	ENST00000368799.1	-	3	9760	c.9725C>T	c.(9724-9726)tCt>tTt	p.S3242F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3242	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)			CTCCTGAACAGATCCACGATG	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.(9724-9726)tCt>tTt		filaggrin							221.0	225.0	224.0					1																	152277637		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277637G>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.9725C>T	1.37:g.152277637G>A	ENSP00000357789:p.Ser3242Phe					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3242F	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9760	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3242			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9725C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130852	0.21041	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03801	3.8	3.64	-0.701	0.11269	.	.	.	.	.	T	0.06325	0.0163	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	D	0.85130	0.997	T	0.22382	-1.0218	9	0.72032	D	0.01	.	0.7147	0.00930	0.2308:0.1891:0.3864:0.1936	.	3242	P20930	FILA_HUMAN	F	3242;180	ENSP00000357789:S3242F	ENSP00000357786:S180F	S	-	2	0	FLG	150544261	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.482000	0.22276	-0.005000	0.14395	0.449000	0.29647	TCT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		24	428	0	0	0	1	0	24	428				
GPR113	165082	broad.mit.edu	37	2	26533860	26533860	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:26533860C>T	ENST00000311519.1	-	11	2735	c.2736G>A	c.(2734-2736)ctG>ctA	p.L912L	GPR113_ENST00000541401.1_Silent_p.L515L|GPR113_ENST00000421160.2_Silent_p.L843L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.L713L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	912					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCCTCCCTCAGGTATTGCC	0.612																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(2137-2139)ctG>ctA		G protein-coupled receptor 113							50.0	45.0	46.0					2																	26533860		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26533860C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2736G>A	2.37:g.26533860C>T						GPR113_ENST00000421160.2_Silent_p.L843L|GPR113_ENST00000311519.1_Silent_p.L912L|GPR113_ENST00000541401.1_Silent_p.L515L|GPR113_ENST00000459892.1_5'UTR	p.L713L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2721	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		912			GPS.		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.2139G>A	CCDS46239.1																																																																																				0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		3	28	0	0	0	1	0	3	28				
BMPR2	659	broad.mit.edu	37	2	203383743	203383743	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:203383743G>C	ENST00000374580.4	+	6	1359	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E274Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGGACGCATGGAATATTTGCT	0.418																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(820-822)Gaa>Caa		bone morphogenetic protein receptor, type II (serine/threonine kinase)							158.0	142.0	147.0					2																	203383743		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203383743G>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.820G>C	2.37:g.203383743G>C	ENSP00000363708:p.Glu274Gln					BMPR2_ENST00000374574.2_Missense_Mutation_p.E274Q	p.E274Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			6	1359	+			274			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.820G>C	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126900	0.94429	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	T;T	0.66280	-0.2;-0.2	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.091849	0.64402	D	0.000001	T	0.64538	0.2607	N	0.16478	0.41	0.80722	D	1	D;P	0.69078	0.997;0.916	P;P	0.60886	0.88;0.533	T	0.62817	-0.6774	10	0.30078	T	0.28	.	19.7421	0.96237	0.0:0.0:1.0:0.0	.	274;274	Q13161;Q13873	.;BMPR2_HUMAN	Q	274	ENSP00000363708:E274Q;ENSP00000363702:E274Q	ENSP00000363702:E274Q	E	+	1	0	BMPR2	203091988	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.789000	0.99068	2.666000	0.90696	0.650000	0.86243	GAA		0.418	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		9	141	0	0	0	1	0	9	141				
IGSF22	283284	broad.mit.edu	37	11	18731033	18731033	+	Missense_Mutation	SNP	C	C	G	rs199889685		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:18731033C>G	ENST00000513874.1	-	18	3038	c.2899G>C	c.(2899-2901)Gag>Cag	p.E967Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	866										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTGCCTCTCGATGAGTCCT	0.567																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2899-2901)Gag>Cag		immunoglobulin superfamily, member 22							108.0	111.0	110.0					11																	18731033		1953	4146	6099	SO:0001583	missense	283284							g.chr11:18731033C>G	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2899G>C	11.37:g.18731033C>G	ENSP00000421191:p.Glu967Gln					RP11-1081L13.4_ENST00000527285.1_RNA	p.E967Q	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			18	3038	-			866					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.2899G>C	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010080	0.35415	.	.	ENSG00000179057	ENST00000513874	T	0.58060	0.36	4.36	2.24	0.28232	.	.	.	.	.	T	0.53270	0.1786	N	0.25286	0.73	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.38520	-0.9657	9	0.30854	T	0.27	.	7.0898	0.25277	0.0:0.7674:0.0:0.2326	.	967	D6RGV7	.	Q	967	ENSP00000421191:E967Q	ENSP00000322422:E866Q	E	-	1	0	IGSF22	18687609	0.000000	0.05858	0.319000	0.25293	0.949000	0.60115	0.720000	0.25896	0.345000	0.23873	0.655000	0.94253	GAG		0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		5	95	0	0	0	1	0	5	95				
DDTL	100037417	broad.mit.edu	37	22	24313562	24313562	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:24313562G>C	ENST00000215770.5	+	3	386	c.372G>C	c.(370-372)ttG>ttC	p.L124F	DDT_ENST00000398344.4_3'UTR|KB-226F1.2_ENST00000609736.1_lincRNA|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	124						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)			kidney(1)|urinary_tract(1)	2						AGTCATGTTTGAATGAGGAAG	0.473																																						ENST00000215770.5																			0				kidney(1)|urinary_tract(1)	2						c.(370-372)ttG>ttC		D-dopachrome tautomerase-like							89.0	92.0	91.0					22																	24313562		2202	4298	6500	SO:0001583	missense	100037417					cytoplasm	lyase activity	g.chr22:24313562G>C	CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"""D-dopachrome decarboxylase-like protein"""					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.372G>C	22.37:g.24313562G>C	ENSP00000215770:p.Leu124Phe					DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR	p.L124F	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN			3	386	+			124					B4DJJ7	Missense_Mutation	SNP	ENST00000215770.5	37	c.372G>C	CCDS42988.1	.	.	.	.	.	.	.	.	.	.	.	6.178	0.401102	0.11696	.	.	ENSG00000099974	ENST00000215770	.	.	.	3.28	2.23	0.28157	.	.	.	.	.	T	0.23410	0.0566	N	0.08118	0	0.09310	N	0.999994	B	0.11235	0.004	B	0.10450	0.005	T	0.22626	-1.0211	8	0.87932	D	0	.	8.6617	0.34097	0.0:0.234:0.766:0.0	.	124	A6NHG4	DDTL_HUMAN	F	124	.	ENSP00000215770:L124F	L	+	3	2	DDTL	22643562	0.020000	0.18652	0.002000	0.10522	0.061000	0.15899	1.748000	0.38308	0.936000	0.37367	0.638000	0.83543	TTG		0.473	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1	NM_001084393		4	60	0	0	0	1	0	4	60				
CCT7	10574	broad.mit.edu	37	2	73476281	73476281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:73476281G>A	ENST00000258091.5	+	8	1087	c.946G>A	c.(946-948)Gag>Aag	p.E316K	CCT7_ENST00000398422.2_Missense_Mutation_p.E112K|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.E229K|CCT7_ENST00000538797.1_Missense_Mutation_p.E188K|CCT7_ENST00000539919.1_Missense_Mutation_p.E272K|CCT7_ENST00000537131.1_Missense_Mutation_p.E216K	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	316					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCGAGTACCTGAGGAGGATCT	0.517																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(814-816)Gag>Aag		chaperonin containing TCP1, subunit 7 (eta)							91.0	95.0	93.0					2																	73476281		1991	4159	6150	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73476281G>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.946G>A	2.37:g.73476281G>A	ENSP00000258091:p.Glu316Lys					CCT7_ENST00000398422.2_Missense_Mutation_p.E112K|CCT7_ENST00000258091.5_Missense_Mutation_p.E316K|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.E229K|CCT7_ENST00000538797.1_Missense_Mutation_p.E188K|CCT7_ENST00000537131.1_Missense_Mutation_p.E216K	p.E272K	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			9	1185	+			316					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.814G>A	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680890	0.68042	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.78	4.78	0.61160	.	0.048990	0.85682	D	0.000000	T	0.68550	0.3013	N	0.10809	0.05	0.80722	D	1	P;B;B;D;B;D	0.59357	0.747;0.05;0.04;0.985;0.001;0.984	B;B;B;P;B;D	0.63113	0.371;0.058;0.024;0.908;0.017;0.911	T	0.62937	-0.6748	10	0.02654	T	1	-21.8821	16.9294	0.86186	0.0:0.0:1.0:0.0	.	229;188;216;274;112;316	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	K	229;272;316;112;216;188;274	ENSP00000442058:E229K;ENSP00000437824:E272K;ENSP00000258091:E316K;ENSP00000381456:E112K;ENSP00000444379:E216K;ENSP00000438462:E188K	ENSP00000258091:E316K	E	+	1	0	CCT7	73329789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.588000	0.98232	2.671000	0.90904	0.455000	0.32223	GAG		0.517	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			4	65	0	0	0	1	0	4	65				
ZNF479	90827	broad.mit.edu	37	7	57194303	57194303	+	Silent	SNP	G	G	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:57194303G>T	ENST00000331162.4	-	3	432	c.162C>A	c.(160-162)tcC>tcA	p.S54S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	54	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)			CCTCACCCAGGGAGACCAGGT	0.363																																						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.(160-162)tcC>tcA		zinc finger protein 479							89.0	92.0	91.0					7																	57194303		2201	4299	6500	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194303G>T	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.162C>A	7.37:g.57194303G>T							p.S54S	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	432	-			54			KRAB.			Silent	SNP	ENST00000331162.4	37	c.162C>A	CCDS43590.1																																																																																				0.363	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	211	1	0	0.00116845	1	0.00118379	5	211				
SPTAN1	6709	broad.mit.edu	37	9	131348158	131348158	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:131348158G>A	ENST00000372731.4	+	19	2802	c.2692G>A	c.(2692-2694)Gat>Aat	p.D898N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D898N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D898N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	898					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTACTTTGCTGATGCTAACGA	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(2692-2694)Gat>Aat		spectrin, alpha, non-erythrocytic 1							100.0	93.0	95.0					9																	131348158		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131348158G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2692G>A	9.37:g.131348158G>A	ENSP00000361816:p.Asp898Asn					SPTAN1_ENST00000372731.4_Missense_Mutation_p.D898N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D898N	p.D898N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			19	2802	+			898					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.2692G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938220	0.92526	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.36520	1.25;1.25;1.25	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	H	0.95780	3.72	0.80722	D	1	D;D;D;P;B	0.89917	0.997;0.997;1.0;0.894;0.081	D;D;D;P;B	0.91635	0.989;0.992;0.999;0.772;0.086	T	0.79560	-0.1753	10	0.54805	T	0.06	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	898;898;898;898;898	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	N	898	ENSP00000350882:D898N;ENSP00000361816:D898N;ENSP00000361824:D898N	ENSP00000350882:D898N	D	+	1	0	SPTAN1	130387979	1.000000	0.71417	0.278000	0.24718	0.771000	0.43674	9.420000	0.97426	2.832000	0.97577	0.655000	0.94253	GAT		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		11	82	0	0	0	1	0	11	82				
RPS6KA2	6196	broad.mit.edu	37	6	166889325	166889325	+	Intron	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:166889325C>G	ENST00000265678.4	-	11	1131				RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000481261.2_Intron|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.E150Q|RPS6KA2_ENST00000503859.1_Intron	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2						axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCCGTTTTCTCACCTGCAGAG	0.483																																						ENST00000366863.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(448-450)Gag>Cag		ribosomal protein S6 kinase, 90kDa, polypeptide 2							101.0	104.0	103.0					6																	166889325		876	1991	2867	SO:0001627	intron_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166889325C>G	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.908-5932G>C	6.37:g.166889325C>G						RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000265678.4_Intron|RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000481261.2_Intron	p.E150Q			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	11	1127	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	0			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.448G>C	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	5.008	0.187157	0.09547	.	.	ENSG00000071242	ENST00000366863	T	0.64991	-0.13	0.876	0.876	0.19138	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40194	-0.9576	6	0.87932	D	0	.	5.0585	0.14546	0.0:1.0:0.0:0.0	.	.	.	.	Q	150	ENSP00000355828:E150Q	ENSP00000355828:E150Q	E	-	1	0	RPS6KA2	166809315	0.001000	0.12720	0.016000	0.15963	0.031000	0.12232	0.045000	0.14013	0.750000	0.32877	0.313000	0.20887	GAG		0.483	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		5	76	0	0	0	1	0	5	76				
TMPRSS11A	339967	broad.mit.edu	37	4	68812202	68812202	+	Silent	SNP	C	C	A	rs147036994		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:68812202C>A	ENST00000334830.7	-	2	845	c.99G>T	c.(97-99)gtG>gtT	p.V33V	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.V33V|TMPRSS11A_ENST00000508048.1_Silent_p.V32V			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	33					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GACCTATGGTCACTGCCACCA	0.408																																					NSCLC(26;2 894 10941 14480 22546)	ENST00000508048.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(94-96)gtG>gtT		transmembrane protease, serine 11A							76.0	70.0	72.0					4																	68812202		2203	4300	6503	SO:0001819	synonymous_variant	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68812202C>A	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.99G>T	4.37:g.68812202C>A						TMPRSS11A_ENST00000334830.7_Silent_p.V33V|TMPRSS11A_ENST00000396188.2_Silent_p.V33V|RP11-453E17.1_ENST00000500538.2_RNA	p.V32V			Q6ZMR5	TM11A_HUMAN			2	131	-			33					J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Silent	SNP	ENST00000334830.7	37	c.96G>T	CCDS3519.1																																																																																				0.408	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		7	79	1	0	5.4927e-09	1	5.6282e-09	7	79				
NPTX1	4884	broad.mit.edu	37	17	78447056	78447056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:78447056C>G	ENST00000306773.4	-	3	998	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	281	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			AGGACCAGCTCGTTGGCCTGG	0.642																																						ENST00000306773.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(841-843)Gag>Cag		neuronal pentraxin I							119.0	114.0	116.0					17																	78447056		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78447056C>G	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.841G>C	17.37:g.78447056C>G	ENSP00000307549:p.Glu281Gln						p.E281Q	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		3	998	-	all_neural(118;0.0538)		281			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.841G>C	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862648	0.91511	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.09723	2.95	4.27	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	M	0.84511	2.7	0.80722	D	1	D	0.60160	0.987	P	0.55667	0.781	T	0.33523	-0.9865	10	0.62326	D	0.03	-26.6683	16.4816	0.84159	0.0:1.0:0.0:0.0	.	281	Q15818	NPTX1_HUMAN	Q	281;43	ENSP00000307549:E281Q	ENSP00000307549:E281Q	E	-	1	0	NPTX1	76061651	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.505000	0.81655	2.187000	0.69744	0.511000	0.50034	GAG		0.642	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			8	115	0	0	0	1	0	8	115				
FANCI	55215	broad.mit.edu	37	15	89843085	89843085	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:89843085G>A	ENST00000310775.7	+	25	2777	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	FANCI_ENST00000300027.8_Silent_p.K837K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	897					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGTCGGGAAAGAAAGAGAAAG	0.428								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2689-2691)aaG>aaA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							114.0	105.0	108.0					15																	89843085		2200	4299	6499	SO:0001819	synonymous_variant	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89843085G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2691G>A	15.37:g.89843085G>A						FANCI_ENST00000300027.8_Silent_p.K837K	p.K897K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			25	2777	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		897					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	c.2691G>A	CCDS45346.1																																																																																				0.428	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		9	79	0	0	0	1	0	9	79				
DLGAP2	9228	broad.mit.edu	37	8	1649519	1649519	+	Missense_Mutation	SNP	G	G	A	rs377140791		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:1649519G>A	ENST00000421627.2	+	12	3009	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1038					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTCCGCCTCCGAGCGCGCGGA	0.687																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2875-2877)Gag>Aag		discs, large (Drosophila) homolog-associated protein 2							12.0	16.0	14.0					8																	1649519		2183	4294	6477	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1649519G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2875G>A	8.37:g.1649519G>A	ENSP00000400258:p.Glu959Lys						p.E959K	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	12	3009	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	1038					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2875G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	36	5.720855	0.96839	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.21543	2.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.87097	2.86	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62300	-0.6883	10	0.87932	D	0	-19.4228	19.3914	0.94584	0.0:0.0:1.0:0.0	.	1024;1038	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	K	990;959	ENSP00000400258:E959K	ENSP00000348366:E990K	E	+	1	0	DLGAP2	1636926	1.000000	0.71417	0.940000	0.37924	0.656000	0.38851	9.306000	0.96204	2.587000	0.87381	0.491000	0.48974	GAG		0.687	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		3	13	0	0	0	1	0	3	13				
ZNF236	7776	broad.mit.edu	37	18	74631794	74631794	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:74631794G>A	ENST00000253159.8	+	20	3529	c.3331G>A	c.(3331-3333)Gag>Aag	p.E1111K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1113K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1111					cellular response to glucose stimulus (GO:0071333)|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(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTCGTCCTGAGGTCATCAC	0.517																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3331-3333)Gag>Aag		zinc finger protein 236							107.0	107.0	107.0					18																	74631794		2087	4203	6290	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74631794G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3331G>A	18.37:g.74631794G>A	ENSP00000253159:p.Glu1111Lys					ZNF236_ENST00000320610.9_Missense_Mutation_p.E1113K	p.E1111K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	20	3529	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1111					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3331G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547149	0.86022	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10668	2.85;3.03	5.75	5.75	0.90469	.	0.118681	0.56097	D	0.000025	T	0.13030	0.0316	L	0.38531	1.155	0.47123	D	0.999329	B	0.32245	0.361	B	0.35413	0.202	T	0.10660	-1.0620	10	0.26408	T	0.33	.	19.9308	0.97118	0.0:0.0:1.0:0.0	.	1111	Q9UL36	ZN236_HUMAN	K	1111	ENSP00000253159:E1111K;ENSP00000444524:E1111K	ENSP00000253159:E1111K	E	+	1	0	ZNF236	72760782	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.621000	0.83083	2.715000	0.92844	0.585000	0.79938	GAG		0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			11	163	0	0	0	1	0	11	163				
ATAD5	79915	broad.mit.edu	37	17	29220954	29220954	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:29220954G>C	ENST00000321990.4	+	21	5461	c.5083G>C	c.(5083-5085)Gag>Cag	p.E1695Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1695					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTTTAGTCTTGAGAGTAATGA	0.368																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(5083-5085)Gag>Cag		ATPase family, AAA domain containing 5							160.0	163.0	162.0					17																	29220954		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220954G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5083G>C	17.37:g.29220954G>C	ENSP00000313171:p.Glu1695Gln						p.E1695Q	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5461	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1695					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.5083G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270018	0.80469	.	.	ENSG00000176208	ENST00000321990	T	0.06294	3.32	6.08	6.08	0.98989	.	0.237750	0.48767	N	0.000173	T	0.28101	0.0693	M	0.70275	2.135	0.50467	D	0.99987	D	0.89917	1.0	D	0.83275	0.996	T	0.00050	-1.2198	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1695	Q96QE3	ATAD5_HUMAN	Q	1695	ENSP00000313171:E1695Q	ENSP00000313171:E1695Q	E	+	1	0	ATAD5	26245080	1.000000	0.71417	0.690000	0.30148	0.995000	0.86356	7.482000	0.81143	2.894000	0.99253	0.591000	0.81541	GAG		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		5	111	0	0	0	1	0	5	111				
TCFL5	10732	broad.mit.edu	37	20	61492825	61492825	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:61492825C>T	ENST00000335351.3	-	1	290	c.198G>A	c.(196-198)gaG>gaA	p.E66E	TCFL5_ENST00000217162.5_Silent_p.E18E	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	66					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CAGCCGCCGCCTCCATGTGCG	0.736																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(196-198)gaG>gaA		transcription factor-like 5 (basic helix-loop-helix)							17.0	17.0	17.0					20																	61492825		2096	4086	6182	SO:0001819	synonymous_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61492825C>T	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.198G>A	20.37:g.61492825C>T						TCFL5_ENST00000217162.5_Silent_p.E18E	p.E66E	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			1	290	-	Breast(26;5.68e-08)		66					O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	c.198G>A	CCDS13506.1																																																																																				0.736	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		4	26	0	0	0	1	0	4	26				
GBE1	2632	broad.mit.edu	37	3	81695605	81695605	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:81695605G>A	ENST00000429644.2	-	6	1363	c.720C>T	c.(718-720)atC>atT	p.I240I	GBE1_ENST00000489715.1_Silent_p.I199I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	240					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CATGCTCCATGATTGCCATCA	0.348									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(718-720)atC>atT		glucan (1,4-alpha-), branching enzyme 1							103.0	98.0	100.0					3																	81695605		1855	4088	5943	SO:0001819	synonymous_variant	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81695605G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.720C>T	3.37:g.81695605G>A						GBE1_ENST00000489715.1_Silent_p.I199I	p.I240I	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	6	1363	-		Lung NSC(201;0.0117)	240					B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	c.720C>T	CCDS54612.1																																																																																				0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			11	120	0	0	0	1	0	11	120				
TRPC4AP	26133	broad.mit.edu	37	20	33632354	33632354	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:33632354C>T	ENST00000252015.2	-	7	908	c.819G>A	c.(817-819)caG>caA	p.Q273Q	TRPC4AP_ENST00000451813.2_Silent_p.Q273Q|TRPC4AP_ENST00000432634.2_Silent_p.Q234Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	273	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCTCTTCTTCTGTTGAGCAT	0.448																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(817-819)caG>caA		transient receptor potential cation channel, subfamily C, member 4 associated protein							123.0	121.0	122.0					20																	33632354		2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33632354C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.819G>A	20.37:g.33632354C>T						TRPC4AP_ENST00000451813.1_Silent_p.Q273Q|TRPC4AP_ENST00000432634.2_Silent_p.Q234Q	p.Q273Q			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		7	908	-			273			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.819G>A	CCDS13246.1																																																																																				0.448	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		14	130	0	0	0	1	0	14	130				
RAB11FIP1	80223	broad.mit.edu	37	8	37732103	37732103	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:37732103C>G	ENST00000330843.4	-	3	1564	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E370Q|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E518Q|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E370Q	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	518					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACTTGGACTCTGGCTCAGCT	0.542																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1552-1554)Gag>Cag		RAB11 family interacting protein 1 (class I)							80.0	79.0	80.0					8																	37732103		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732103C>G	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1552G>C	8.37:g.37732103C>G	ENSP00000331342:p.Glu518Gln					RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E370Q|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E370Q|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E518Q	p.E518Q	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1564	-		Lung NSC(58;0.118)|all_lung(54;0.195)	518					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1552G>C	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962342	0.53400	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.33654	2.13;2.21;1.4;1.41	5.03	4.15	0.48705	.	0.120313	0.37809	N	0.001935	T	0.25121	0.0610	L	0.32530	0.975	0.19300	N	0.99997	B;B;B;B	0.32031	0.044;0.291;0.027;0.352	B;B;B;B	0.27170	0.014;0.067;0.025;0.077	T	0.13202	-1.0518	10	0.40728	T	0.16	-30.9132	9.9532	0.41651	0.0:0.7844:0.1402:0.0754	.	370;370;518;518	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	Q	518;518;370;370	ENSP00000287263:E518Q;ENSP00000331342:E518Q;ENSP00000430009:E370Q;ENSP00000430680:E370Q	ENSP00000287263:E518Q	E	-	1	0	RAB11FIP1	37851261	0.168000	0.22989	0.138000	0.22173	0.036000	0.12997	0.743000	0.26231	1.098000	0.41479	0.655000	0.94253	GAG		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		6	88	0	0	0	1	0	6	88				
ARID1A	8289	broad.mit.edu	37	1	27057874	27057874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:27057874C>T	ENST00000324856.7	+	3	1953	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q145*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q528*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	528					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCACATCAGCAGTCCCC	0.617			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1582-1584)Cag>Tag		AT rich interactive domain 1A (SWI-like)							244.0	237.0	239.0					1																	27057874		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057874C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1582C>T	1.37:g.27057874C>T	ENSP00000320485:p.Gln528*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q528*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q145*	p.Q528*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1953	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	528					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1582C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432722	0.96150	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	5.44	0.79542	.	0.231855	0.38326	N	0.001734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-6.1739	19.4471	0.94852	0.0:1.0:0.0:0.0	rs35170002	.	.	.	X	528;528;145	.	ENSP00000320485:Q528X	Q	+	1	0	ARID1A	26930461	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.531000	0.53546	2.824000	0.97209	0.655000	0.94253	CAG		0.617	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		15	258	0	0	0	1	0	15	258				
HMCN1	83872	broad.mit.edu	37	1	185984368	185984368	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:185984368G>A	ENST00000271588.4	+	31	4937	c.4708G>A	c.(4708-4710)Gaa>Aaa	p.E1570K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1570K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1570	Ig-like C2-type 13.			E -> K (in Ref. 1). {ECO:0000305}.	response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGGAATGTGAAACACGGGG	0.398																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4708-4710)Gaa>Aaa		hemicentin 1							104.0	94.0	97.0					1																	185984368		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185984368G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4708G>A	1.37:g.185984368G>A	ENSP00000271588:p.Glu1570Lys					HMCN1_ENST00000367492.2_Missense_Mutation_p.E1570K	p.E1570K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			31	4937	+			1570	E -> K (in Ref. 1).		Ig-like C2-type 13.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4708G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388694	0.95988	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047340	0.85682	D	0.000000	T	0.71779	0.3380	L	0.39633	1.23	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.64732	-0.6338	10	0.18710	T	0.47	.	19.4396	0.94813	0.0:0.0:1.0:0.0	.	1570	Q96RW7	HMCN1_HUMAN	K	1570	ENSP00000271588:E1570K;ENSP00000356462:E1570K	ENSP00000271588:E1570K	E	+	1	0	HMCN1	184250991	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.096000	0.76960	2.652000	0.90054	0.650000	0.86243	GAA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	85	0	0	0	1	0	5	85				
CDC42BPG	55561	broad.mit.edu	37	11	64602837	64602837	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:64602837C>T	ENST00000342711.5	-	16	1934	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCTCCCGGCTCAGCCTCCGGT	0.657																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1933-1935)ctG>ctA		CDC42 binding protein kinase gamma (DMPK-like)							265.0	276.0	272.0					11																	64602837		2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602837C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1935G>A	11.37:g.64602837C>T							p.L645L	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			16	1934	-			645						Silent	SNP	ENST00000342711.5	37	c.1935G>A	CCDS31601.1																																																																																				0.657	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		24	380	0	0	0	1	0	24	380				
FAM57A	79850	broad.mit.edu	37	17	644738	644738	+	Silent	SNP	C	C	T	rs202007550	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:644738C>T	ENST00000308278.8	+	5	938	c.702C>T	c.(700-702)atC>atT	p.I234I	FAM57A_ENST00000301324.8_Silent_p.I202I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	234	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTCCTCAGATCTACTGGTTCT	0.567																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(700-702)atC>atT		family with sequence similarity 57, member A							132.0	107.0	115.0					17																	644738		2203	4300	6503	SO:0001819	synonymous_variant	79850					integral to membrane|plasma membrane		g.chr17:644738C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.702C>T	17.37:g.644738C>T						FAM57A_ENST00000301324.8_Silent_p.I202I	p.I234I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	5	938	+			234			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	ENST00000308278.8	37	c.702C>T	CCDS10996.1																																																																																				0.567	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		6	85	0	0	0	1	0	6	85				
GPR123	84435	broad.mit.edu	37	10	134896174	134896174	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:134896174G>A	ENST00000607359.1	+	6	1260	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTTGGCCTGAGGTGGGCAT	0.622																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1258-1260)ctG>ctA		G protein-coupled receptor 123							42.0	44.0	44.0					10																	134896174		1568	3582	5150	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134896174G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1260G>A	10.37:g.134896174G>A							p.L420L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	6	1260	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000607359.1	37	c.1260G>A																																																																																					0.622	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			4	27	0	0	0	1	0	4	27				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			132241							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			6	166	0	0	0	1	0	6	166				
HMGCL	3155	broad.mit.edu	37	1	24129001	24129001	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:24129001C>T	ENST00000374490.3	-	9	973	c.930G>A	c.(928-930)ctG>ctA	p.L310L	GALE_ENST00000374497.3_5'Flank|GALE_ENST00000470383.1_5'Flank|HMGCL_ENST00000374483.4_Silent_p.L285L|HMGCL_ENST00000436439.2_Silent_p.L239L|HMGCL_ENST00000509389.1_5'Flank	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	310					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TTTTTCTGTTCAGGGCTTGAC	0.498																																						ENST00000374483.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(853-855)ctG>ctA		3-hydroxymethyl-3-methylglutaryl-CoA lyase							111.0	105.0	107.0					1																	24129001		2203	4300	6503	SO:0001819	synonymous_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24129001C>T	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.930G>A	1.37:g.24129001C>T						HMGCL_ENST00000374490.3_Silent_p.L310L|HMGCL_ENST00000436439.2_Silent_p.L239L	p.L285L			P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	10	1526	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	310					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Silent	SNP	ENST00000374490.3	37	c.855G>A	CCDS243.1																																																																																				0.498	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		7	124	0	0	0	1	0	7	124				
GLDC	2731	broad.mit.edu	37	9	6606647	6606647	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:6606647G>C	ENST00000321612.6	-	5	808	c.658C>G	c.(658-660)Ctc>Gtc	p.L220V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	220					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GGATCAACGAGAAATTTCCTC	0.373																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(658-660)Ctc>Gtc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						181.0	167.0	172.0					9																	6606647		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6606647G>C	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.658C>G	9.37:g.6606647G>C	ENSP00000370737:p.Leu220Val						p.L220V	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	5	808	-		Acute lymphoblastic leukemia(23;0.161)	220					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.658C>G	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.646304	0.29246	.	.	ENSG00000178445	ENST00000321612	D	0.95821	-3.82	5.22	5.22	0.72569	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.108898	0.64402	D	0.000004	D	0.92074	0.7488	L	0.37507	1.11	0.19775	N	0.999951	B	0.10296	0.003	B	0.20384	0.029	D	0.84245	0.0474	10	0.56958	D	0.05	-9.2845	11.3334	0.49490	0.9282:0.0:0.0718:0.0	.	220	P23378	GCSP_HUMAN	V	220	ENSP00000370737:L220V	ENSP00000370737:L220V	L	-	1	0	GLDC	6596647	1.000000	0.71417	0.785000	0.31869	0.150000	0.21749	6.892000	0.75644	0.935000	0.37341	-0.360000	0.07572	CTC		0.373	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		5	152	0	0	0	1	0	5	152				
DIXDC1	85458	broad.mit.edu	37	11	111887438	111887438	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:111887438C>G	ENST00000440460.2	+	19	2074	c.1777C>G	c.(1777-1779)Cca>Gca	p.P593A	DIXDC1_ENST00000315253.5_Missense_Mutation_p.P382A|DIXDC1_ENST00000389821.4_3'UTR|RP11-708L7.6_ENST00000530733.1_RNA	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	594					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAGAGCTCTCCAACTGTCAG	0.453																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(1777-1779)Cca>Gca		DIX domain containing 1							66.0	63.0	64.0					11																	111887438		1956	4145	6101	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111887438C>G	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1777C>G	11.37:g.111887438C>G	ENSP00000394352:p.Pro593Ala					DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.P382A	p.P593A	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	19	2074	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	594					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.1777C>G		.	.	.	.	.	.	.	.	.	.	C	20.8	4.043483	0.75732	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.72167	-0.63;0.78	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	.	.	.	0.58432	D	0.999997	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.83275	0.969;0.979;0.996	T	0.80493	-0.1358	9	0.32370	T	0.25	-46.9448	19.7681	0.96350	0.0:1.0:0.0:0.0	.	259;382;594	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	A	593;382	ENSP00000394352:P593A;ENSP00000314068:P382A	ENSP00000314068:P382A	P	+	1	0	DIXDC1	111392648	0.918000	0.31147	0.989000	0.46669	0.993000	0.82548	2.796000	0.47869	2.768000	0.95171	0.655000	0.94253	CCA		0.453	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		3	27	0	0	0	1	0	3	27				
GPM6B	2824	broad.mit.edu	37	X	13794420	13794420	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:13794420G>C	ENST00000356942.5	-	6	1095	c.654C>G	c.(652-654)ttC>ttG	p.F218L	GPM6B_ENST00000398361.3_Missense_Mutation_p.F132L|GPM6B_ENST00000454189.2_Missense_Mutation_p.F199L|GPM6B_ENST00000493677.1_Missense_Mutation_p.F232L|GPM6B_ENST00000355135.2_Missense_Mutation_p.F258L|GPM6B_ENST00000316715.4_Missense_Mutation_p.F258L	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	218					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						AGGACATGTAGAACTACAAAA	0.493																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(595-597)ttC>ttG		glycoprotein M6B							191.0	149.0	163.0					X																	13794420		2203	4300	6503	SO:0001583	missense	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13794420G>C		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.654C>G	X.37:g.13794420G>C	ENSP00000349420:p.Phe218Leu					GPM6B_ENST00000356942.5_Missense_Mutation_p.F218L|GPM6B_ENST00000493677.1_Missense_Mutation_p.F232L|GPM6B_ENST00000398361.3_Missense_Mutation_p.F132L|GPM6B_ENST00000316715.4_Missense_Mutation_p.F258L|GPM6B_ENST00000355135.2_Missense_Mutation_p.F258L	p.F199L	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			6	724	-			218					O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	c.597C>G	CCDS14158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.09|18.09	3.545195|3.545195	0.65198|0.65198	.|.	.|.	ENSG00000046653|ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000398361;ENST00000495211|ENST00000472735	D;D;D;D;D;D;D|.	0.99239|.	-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Myelin proteolipid protein PLP, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70736|0.70736	0.3258|0.3258	L|L	0.51853|0.51853	1.615|1.615	0.80722|0.80722	D|D	1|1	D;B;D;D;D;P|.	0.56521|.	0.971;0.427;0.971;0.976;0.971;0.934|.	P;B;P;P;P;P|.	0.55087|.	0.658;0.144;0.765;0.768;0.658;0.669|.	T|T	0.66524|0.66524	-0.5902|-0.5902	10|5	0.15952|.	T|.	0.53|.	-9.6126|-9.6126	19.1931|19.1931	0.93675|0.93675	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;199;218;258;210;258|.	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956|.	.;.;GPM6B_HUMAN;.;.;.|.	L|V	258;199;232;258;218;132;183|114	ENSP00000316861:F258L;ENSP00000389915:F199L;ENSP00000419904:F232L;ENSP00000347258:F258L;ENSP00000349420:F218L;ENSP00000381402:F132L;ENSP00000419409:F183L|.	ENSP00000316861:F258L|.	F|L	-|-	3|1	2|2	GPM6B|GPM6B	13704341|13704341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.413000|7.413000	0.80104|0.80104	2.570000|2.570000	0.86706|0.86706	0.600000|0.600000	0.82982|0.82982	TTC|CTA		0.493	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		6	61	0	0	0	1	0	6	61				
LBH	81606	broad.mit.edu	37	2	30457343	30457343	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:30457343C>T	ENST00000395323.3	+	2	307	c.99C>T	c.(97-99)ctC>ctT	p.L33L	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Silent_p.L16L|LBH_ENST00000401506.1_Silent_p.L39L|LBH_ENST00000404397.1_Silent_p.L33L|LBH_ENST00000406087.1_Silent_p.L33L	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	33					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AGATCGGCCTCAGCCCCCGCA	0.557																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(97-99)ctC>ctT		limb bud and heart development							120.0	100.0	107.0					2																	30457343		2203	4300	6503	SO:0001819	synonymous_variant	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30457343C>T	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.99C>T	2.37:g.30457343C>T						LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Silent_p.L39L|LBH_ENST00000404397.1_Silent_p.L33L|LBH_ENST00000407930.2_Silent_p.L16L|LBH_ENST00000406087.1_Silent_p.L33L	p.L33L	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			2	307	+	Acute lymphoblastic leukemia(172;0.155)		33					B2RBC2|Q9H0Q1	Silent	SNP	ENST00000395323.3	37	c.99C>T	CCDS33173.1																																																																																				0.557	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		6	76	0	0	0	1	0	6	76				
ADAMTS19	171019	broad.mit.edu	37	5	129070703	129070703	+	Missense_Mutation	SNP	G	G	A	rs553809104		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:129070703G>A	ENST00000274487.4	+	22	3518	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1125	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACATGGAAATGAATGTTTTTC	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16711	0.0		0.0	False		,,,				2504	0.0					ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3373-3375)Gaa>Aaa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							118.0	118.0	118.0					5																	129070703		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129070703G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3373G>A	5.37:g.129070703G>A	ENSP00000274487:p.Glu1125Lys					CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.E1125K	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	22	3518	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1125			TSP type-1 5.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3373G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625358	0.87560	.	.	ENSG00000145808	ENST00000274487	T	0.52057	0.68	4.26	4.26	0.50523	.	0.170052	0.36628	N	0.002486	T	0.56470	0.1987	L	0.28740	0.885	0.53005	D	0.999968	D	0.76494	0.999	D	0.72625	0.978	T	0.53201	-0.8472	9	.	.	.	.	17.9861	0.89156	0.0:0.0:1.0:0.0	.	1125	Q8TE59	ATS19_HUMAN	K	1125	ENSP00000274487:E1125K	.	E	+	1	0	ADAMTS19	129098602	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.542000	0.73869	2.661000	0.90470	0.585000	0.79938	GAA		0.418	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		6	97	0	0	0	1	0	6	97				
TMEM108	66000	broad.mit.edu	37	3	133099627	133099627	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:133099627G>A	ENST00000321871.6	+	4	1282	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	TMEM108_ENST00000393130.3_Missense_Mutation_p.G358R|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Missense_Mutation_p.G358R	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	358						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTGCCACGGGGCCCACCCC	0.622																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1072-1074)Ggg>Agg		transmembrane protein 108							48.0	50.0	49.0					3																	133099627		2203	4299	6502	SO:0001583	missense	66000					integral to membrane		g.chr3:133099627G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1072G>A	3.37:g.133099627G>A	ENSP00000324651:p.Gly358Arg					TMEM108_ENST00000393130.3_Missense_Mutation_p.G358R|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.G358R	p.G358R			Q6UXF1	TM108_HUMAN			3	1195	+			358					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.1072G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926674	0.34002	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.49139	0.84;0.84;0.79	4.19	4.19	0.49359	.	0.176060	0.34268	N	0.004112	T	0.62962	0.2471	M	0.62723	1.935	0.09310	N	1	D;P	0.89917	1.0;0.612	D;B	0.97110	1.0;0.301	T	0.54357	-0.8306	10	0.66056	D	0.02	-4.2584	10.8553	0.46796	0.0936:0.0:0.9064:0.0	.	358;358	E9PB58;Q6UXF1	.;TM108_HUMAN	R	358	ENSP00000324651:G358R;ENSP00000376838:G358R;ENSP00000423338:G358R	ENSP00000324651:G358R	G	+	1	0	TMEM108	134582317	1.000000	0.71417	0.773000	0.31616	0.459000	0.32528	3.350000	0.52224	2.048000	0.60808	0.561000	0.74099	GGG		0.622	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		5	84	0	0	0	1	0	5	84				
DAGLA	747	broad.mit.edu	37	11	61502369	61502369	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:61502369C>T	ENST00000257215.5	+	10	1139	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	341					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGTCACCATCGAGGAAGACA	0.602																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1021-1023)atC>atT		diacylglycerol lipase, alpha							189.0	164.0	173.0					11																	61502369		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61502369C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1023C>T	11.37:g.61502369C>T							p.I341I	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	10	1139	+			341					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.1023C>T	CCDS31578.1																																																																																				0.602	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		27	230	0	0	0	1	0	27	230				
PGK2	5232	broad.mit.edu	37	6	49754123	49754123	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:49754123C>T	ENST00000304801.3	-	1	930	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	260					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCCCTCTTCATCAAACAGG	0.403																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(778-780)Gaa>Aaa		phosphoglycerate kinase 2							137.0	128.0	131.0					6																	49754123		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754123C>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.778G>A	6.37:g.49754123C>T	ENSP00000305995:p.Glu260Lys						p.E260K	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	930	-	Lung NSC(77;0.0402)		260					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.778G>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456728	0.26161	.	.	ENSG00000170950	ENST00000304801	D	0.92199	-2.99	4.09	4.09	0.47781	Phosphoglycerate kinase, C-terminal (1);	0.046573	0.85682	D	0.000000	D	0.85592	0.5732	L	0.49640	1.575	0.50467	D	0.999871	B	0.09022	0.002	B	0.14023	0.01	D	0.84407	0.0563	10	0.54805	T	0.06	-21.3182	14.5839	0.68310	0.0:1.0:0.0:0.0	.	260	P07205	PGK2_HUMAN	K	260	ENSP00000305995:E260K	ENSP00000305995:E260K	E	-	1	0	PGK2	49862082	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	4.245000	0.58734	2.562000	0.86427	0.585000	0.79938	GAA		0.403	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			5	211	0	0	0	1	0	5	211				
TLR3	7098	broad.mit.edu	37	4	187004931	187004931	+	Silent	SNP	A	A	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:187004931A>G	ENST00000296795.3	+	4	2195	c.2091A>G	c.(2089-2091)aaA>aaG	p.K697K	TLR3_ENST00000504367.1_Silent_p.K420K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	697	LRRCT.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CATCTTGCAAAGACAGTGCCC	0.428																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2089-2091)aaA>aaG		toll-like receptor 3							216.0	221.0	219.0					4																	187004931		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004931A>G	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2091A>G	4.37:g.187004931A>G						TLR3_ENST00000504367.1_Silent_p.K420K	p.K697K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	2195	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	697			LRRCT.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.2091A>G	CCDS3846.1																																																																																				0.428	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			43	318	0	0	0	1	0	43	318				
SECISBP2L	9728	broad.mit.edu	37	15	49320677	49320677	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:49320677C>T	ENST00000559471.1	-	5	1130	c.867G>A	c.(865-867)ttG>ttA	p.L289L	SECISBP2L_ENST00000261847.3_Silent_p.L289L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	289							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CAGGATTTCTCAAAGCCCCTG	0.438																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(865-867)ttG>ttA		SECIS binding protein 2-like							131.0	112.0	119.0					15																	49320677		2197	4295	6492	SO:0001819	synonymous_variant	9728							g.chr15:49320677C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.867G>A	15.37:g.49320677C>T						SECISBP2L_ENST00000261847.3_Silent_p.L289L	p.L289L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			5	1130	-			289					Q8N767	Silent	SNP	ENST00000559471.1	37	c.867G>A	CCDS53942.1																																																																																				0.438	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		6	91	0	0	0	1	0	6	91				
KRT18	3875	broad.mit.edu	37	12	53346617	53346617	+	Silent	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:53346617G>C	ENST00000388835.3	+	7	1494	c.1284G>C	c.(1282-1284)ctG>ctC	p.L428L	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000388837.2_Silent_p.L428L	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	428	Tail.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCAAAGTTCTGAGGCATTAAG	0.493																																						ENST00000388835.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(1282-1284)ctG>ctC		keratin 18							63.0	63.0	63.0					12																	53346617		2203	4297	6500	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53346617G>C		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1284G>C	12.37:g.53346617G>C						KRT18_ENST00000388837.2_Silent_p.L428L	p.L428L	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN			7	1494	+			428			Tail.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.1284G>C	CCDS31809.1																																																																																				0.493	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		7	73	0	0	0	1	0	7	73				
FANCI	55215	broad.mit.edu	37	15	89843089	89843089	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:89843089G>A	ENST00000310775.7	+	25	2781	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	FANCI_ENST00000300027.8_Missense_Mutation_p.E839K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	899					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GGGAAAGAAAGAGAAAGGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2695-2697)Gag>Aag	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							118.0	108.0	112.0					15																	89843089		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89843089G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2695G>A	15.37:g.89843089G>A	ENSP00000310842:p.Glu899Lys					FANCI_ENST00000300027.8_Missense_Mutation_p.E839K	p.E899K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			25	2781	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		899					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.2695G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478567	0.84747	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.71222	-0.55;-0.53;0.17	5.54	5.54	0.83059	.	0.193819	0.53938	D	0.000048	T	0.78597	0.4308	L	0.50333	1.59	0.80722	D	1	B;D;D	0.76494	0.164;0.999;0.999	B;D;D	0.71414	0.108;0.973;0.973	T	0.70766	-0.4783	10	0.09338	T	0.73	-14.8984	18.6116	0.91286	0.0:0.0:1.0:0.0	.	899;839;839	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	K	839;899;839	ENSP00000300027:E839K;ENSP00000310842:E899K;ENSP00000413249:E839K	ENSP00000300027:E839K	E	+	1	0	FANCI	87644093	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.885000	0.87282	2.779000	0.95612	0.655000	0.94253	GAG		0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		10	84	0	0	0	1	0	10	84				
GALNT15	117248	broad.mit.edu	37	3	16254169	16254169	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:16254169G>A	ENST00000339732.5	+	6	1794	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	GALNT15_ENST00000437509.1_Missense_Mutation_p.E431K	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	431					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTCGACCAGGAGGCCACCCT	0.557																																						ENST00000339732.5																			0											c.(1291-1293)Gag>Aag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							105.0	97.0	100.0					3																	16254169		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16254169G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1291G>A	3.37:g.16254169G>A	ENSP00000344260:p.Glu431Lys					GALNT15_ENST00000437509.1_Missense_Mutation_p.E431K	p.E431K	NM_054110.4	NP_473451.3					6	1794	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1291G>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408880	0.25378	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.58358	0.34;0.34	5.38	4.51	0.55191	.	0.502045	0.20066	N	0.099963	T	0.35970	0.0950	L	0.33668	1.02	0.40083	D	0.976162	B	0.33549	0.417	B	0.26969	0.075	T	0.13845	-1.0494	10	0.15499	T	0.54	.	11.0691	0.47993	0.1482:0.0:0.8518:0.0	.	431	Q8N3T1	GLTL2_HUMAN	K	431	ENSP00000344260:E431K;ENSP00000395873:E431K	ENSP00000344260:E431K	E	+	1	0	GALNTL2	16229173	0.998000	0.40836	0.894000	0.35097	0.124000	0.20399	2.548000	0.45794	1.273000	0.44346	0.561000	0.74099	GAG		0.557	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		7	101	0	0	0	1	0	7	101				
MAP3K3	4215	broad.mit.edu	37	17	61767679	61767679	+	Silent	SNP	C	C	T	rs201713792		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:61767679C>T	ENST00000361733.3	+	12	1439	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	MAP3K3_ENST00000579585.1_Silent_p.F404F|MAP3K3_ENST00000361357.3_Silent_p.F404F|MAP3K3_ENST00000584573.1_Silent_p.F400F|MAP3K3_ENST00000577395.1_Silent_p.F369F	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGGGTGCCTTCGGCAGGGTCT	0.527																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1210-1212)ttC>ttT		mitogen-activated protein kinase kinase kinase 3							81.0	81.0	81.0					17																	61767679		2203	4300	6503	SO:0001819	synonymous_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61767679C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1119C>T	17.37:g.61767679C>T						MAP3K3_ENST00000577395.1_Silent_p.F369F|MAP3K3_ENST00000361733.3_Silent_p.F373F|MAP3K3_ENST00000579585.1_Silent_p.F404F|MAP3K3_ENST00000584573.1_Silent_p.F400F	p.F404F	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			13	1530	+			373			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	c.1212C>T	CCDS32702.1																																																																																				0.527	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		11	117	0	0	0	1	0	11	117				
ATF6B	1388	broad.mit.edu	37	6	32085106	32085106	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:32085106C>T	ENST00000375203.3	-	14	1640	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	ATF6B_ENST00000375201.4_Silent_p.E533E	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	536					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CTACCTGTCTCTCCTGGGCCC	0.597																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(1597-1599)gaG>gaA		activating transcription factor 6 beta							40.0	42.0	42.0					6																	32085106		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32085106C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1608G>A	6.37:g.32085106C>T						ATF6B_ENST00000375203.3_Silent_p.E536E	p.E533E			Q99941	ATF6B_HUMAN			14	1644	-			536					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.1599G>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	9.417	1.082049	0.20309	.	.	ENSG00000213676	ENST00000453203	.	.	.	5.14	2.98	0.34508	.	0.376195	0.21746	U	0.069753	T	0.22820	0.0551	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04065	-1.0980	6	0.12430	T	0.62	-14.6629	7.9768	0.30159	0.0:0.7771:0.0:0.2229	.	.	.	.	K	73	.	ENSP00000393419:E73K	E	-	1	0	ATF6B	32193084	0.728000	0.28080	1.000000	0.80357	0.996000	0.88848	0.343000	0.19944	1.140000	0.42260	0.563000	0.77884	GAG		0.597	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	36	0	0	0	1	0	5	36				
PFKP	5214	broad.mit.edu	37	10	3154456	3154456	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:3154456G>C	ENST00000381125.4	+	11	1208	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H	PFKP_ENST00000381075.2_Missense_Mutation_p.D370H	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	378	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAGATTTCAAGATGCGGTTCG	0.512																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1108-1110)Gat>Cat		phosphofructokinase, platelet							173.0	168.0	169.0					10																	3154456		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3154456G>C	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1132G>C	10.37:g.3154456G>C	ENSP00000370517:p.Asp378His					PFKP_ENST00000381125.4_Missense_Mutation_p.D378H	p.D370H	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	13	1332	+			378					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1108G>C	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	8.455	0.853863	0.17106	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	T;T;T	0.80393	-1.37;-1.37;-1.37	5.12	2.22	0.28083	Phosphofructokinase domain (1);	0.373545	0.32503	N	0.006004	T	0.72827	0.3509	L	0.32530	0.975	0.80722	D	1	P;P;P	0.41710	0.709;0.709;0.76	B;B;B	0.43990	0.438;0.438;0.418	T	0.70528	-0.4847	10	0.46703	T	0.11	.	10.5137	0.44876	0.2253:0.0:0.7747:0.0	.	370;370;378	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	H	378;367;370;162	ENSP00000370517:D378H;ENSP00000370465:D370H;ENSP00000408858:D162H	ENSP00000370465:D370H	D	+	1	0	PFKP	3144456	1.000000	0.71417	0.002000	0.10522	0.008000	0.06430	4.693000	0.61753	0.674000	0.31244	0.561000	0.74099	GAT		0.512	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		5	73	0	0	0	1	0	5	73				
TRIM27	5987	broad.mit.edu	37	6	28872323	28872323	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:28872323G>T	ENST00000377199.3	-	8	1422	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGGGAAACAGATTGAACCTC	0.542			T	RET	papillary thyroid																																	ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1066-1068)Ctg>Atg		tripartite motif containing 27							63.0	65.0	64.0					6																	28872323		1511	2709	4220	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28872323G>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1066C>A	6.37:g.28872323G>T	ENSP00000366404:p.Leu356Met					TRIM27_ENST00000377194.3_Intron	p.L356M	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			8	1422	-			356			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1066C>A	CCDS4654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.49|16.49	3.139219|3.139219	0.56936|0.56936	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000377199|ENST00000414543	T|.	0.10288|.	2.89|.	4.98|4.98	4.03|4.03	0.46877|0.46877	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);|.	0.000000|.	0.42548|.	D|.	0.000692|.	T|T	0.36496|0.36496	0.0969|0.0969	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.65443|.	0.935|.	T|T	0.12016|0.12016	-1.0564|-1.0564	10|5	0.42905|.	T|.	0.14|.	.|.	12.2746|12.2746	0.54728|0.54728	0.0:0.0:0.8297:0.1703|0.0:0.0:0.8297:0.1703	.|.	356|.	P14373|.	TRI27_HUMAN|.	M|Y	356|90	ENSP00000366404:L356M|.	ENSP00000366404:L356M|.	L|S	-|-	1|2	2|0	TRIM27|TRIM27	28980302|28980302	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.136000|0.136000	0.15974|0.15974	2.686000|2.686000	0.91538|0.91538	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.542	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		10	45	1	0	0.00621372	1	0.00627179	10	45				
OR4K1	79544	broad.mit.edu	37	14	20404108	20404108	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:20404108G>C	ENST00000285600.4	+	1	342	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TATCTCCTTTGAGGGTTGCAT	0.403																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(283-285)Gag>Cag		olfactory receptor, family 4, subfamily K, member 1							149.0	153.0	151.0					14																	20404108		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404108G>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.283G>C	14.37:g.20404108G>C	ENSP00000285600:p.Glu95Gln						p.E95Q	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	342	+	all_cancers(95;0.00108)		95					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.283G>C	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	5.029	0.190948	0.09547	.	.	ENSG00000155249	ENST00000285600	T	0.00402	7.56	4.94	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.578133	0.16568	N	0.208746	T	0.00210	0.0006	L	0.31804	0.96	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.32693	-0.9897	10	0.11182	T	0.66	.	3.9381	0.09314	0.087:0.2964:0.4644:0.1521	.	95	Q8NGD4	OR4K1_HUMAN	Q	95	ENSP00000285600:E95Q	ENSP00000285600:E95Q	E	+	1	0	OR4K1	19473948	0.000000	0.05858	0.631000	0.29282	0.991000	0.79684	-3.000000	0.00653	0.635000	0.30488	0.655000	0.94253	GAG		0.403	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			5	442	0	0	0	1	0	5	442				
CDH16	1014	broad.mit.edu	37	16	66951592	66951592	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:66951592C>T	ENST00000299752.4	-	3	275	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CDH16_ENST00000394055.3_Missense_Mutation_p.E28K|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000568632.1_Missense_Mutation_p.E28K|CDH16_ENST00000565796.1_Missense_Mutation_p.E28K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	28	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCTGGAACTTCCACAGACAGC	0.582																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(82-84)Gaa>Aaa		cadherin 16, KSP-cadherin							33.0	34.0	34.0					16																	66951592		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66951592C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.82G>A	16.37:g.66951592C>T	ENSP00000299752:p.Glu28Lys					CDH16_ENST00000565796.1_Missense_Mutation_p.E28K|CDH16_ENST00000568632.1_Missense_Mutation_p.E28K|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.E28K	p.E28K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	3	275	-		Ovarian(137;0.0563)	28			Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.82G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949873	0.53186	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.70164	-0.46;-0.46	4.95	4.95	0.65309	Cadherin (2);Cadherin-like (1);	0.410861	0.22801	N	0.055474	T	0.58906	0.2155	L	0.42581	1.335	0.35403	D	0.791756	B;B;B	0.30584	0.286;0.189;0.181	B;B;B	0.31337	0.128;0.081;0.033	T	0.65594	-0.6130	10	0.33940	T	0.23	-0.2083	13.6101	0.62074	0.0:1.0:0.0:0.0	.	28;28;28	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	28	ENSP00000377619:E28K;ENSP00000299752:E28K	ENSP00000299752:E28K	E	-	1	0	CDH16	65509093	0.999000	0.42202	0.997000	0.53966	0.505000	0.33919	4.316000	0.59178	2.600000	0.87896	0.650000	0.86243	GAA		0.582	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		4	22	0	0	0	1	0	4	22				
ARHGAP31	57514	broad.mit.edu	37	3	119133435	119133435	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:119133435G>C	ENST00000264245.4	+	12	3191	c.2659G>C	c.(2659-2661)Gac>Cac	p.D887H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	887					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						GGAGCCTTCAGACTGTGACGA	0.552																																					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.(2659-2661)Gac>Cac		Rho GTPase activating protein 31							108.0	111.0	110.0					3																	119133435		2075	4218	6293	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133435G>C		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.2659G>C	3.37:g.119133435G>C	ENSP00000264245:p.Asp887His						p.D887H	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3191	+			887					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2659G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923382	0.52653	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.19669	2.13	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000012	T	0.18467	0.0443	L	0.32530	0.975	0.42341	D	0.992333	P	0.47350	0.894	B	0.39935	0.314	T	0.03221	-1.1059	10	0.49607	T	0.09	.	16.6986	0.85342	0.0:0.0:1.0:0.0	.	887	Q2M1Z3	RHG31_HUMAN	H	887	ENSP00000264245:D887H	ENSP00000264245:D887H	D	+	1	0	ARHGAP31	120616125	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.091000	0.57700	2.391000	0.81399	0.561000	0.74099	GAC		0.552	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			4	106	0	0	0	1	0	4	106				
CAPN2	824	broad.mit.edu	37	1	223943283	223943283	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:223943283C>G	ENST00000295006.5	+	10	1546	c.1237C>G	c.(1237-1239)Cag>Gag	p.Q413E	CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	413	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGGGCTCATTCAGAAGCACCG	0.607																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1237-1239)Cag>Gag		calpain 2, (m/II) large subunit							141.0	109.0	120.0					1																	223943283		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223943283C>G	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1237C>G	1.37:g.223943283C>G	ENSP00000295006:p.Gln413Glu					CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E	p.Q413E	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	10	1546	+			413			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1237C>G	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034227	0.93575	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.89810	-2.57;-2.57	5.35	5.35	0.76521	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.975;0.988	D	0.95536	0.8608	10	0.72032	D	0.01	.	19.0863	0.93204	0.0:1.0:0.0:0.0	.	335;413	B7ZA96;P17655	.;CAN2_HUMAN	E	335;413;442	ENSP00000413158:Q335E;ENSP00000295006:Q413E	ENSP00000295006:Q413E	Q	+	1	0	CAPN2	222009906	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.813000	0.86123	2.507000	0.84556	0.563000	0.77884	CAG		0.607	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		4	35	0	0	0	1	0	4	35				
PPL	5493	broad.mit.edu	37	16	4937178	4937178	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:4937178C>G	ENST00000345988.2	-	21	2654	c.2565G>C	c.(2563-2565)caG>caC	p.Q855H	PPL_ENST00000590782.2_Missense_Mutation_p.Q853H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	855					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTGCAGCCTCTGTCTGTTGA	0.463																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2563-2565)caG>caC		periplakin							181.0	183.0	182.0					16																	4937178		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4937178C>G	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2565G>C	16.37:g.4937178C>G	ENSP00000340510:p.Gln855His					PPL_ENST00000590782.2_Missense_Mutation_p.Q853H	p.Q855H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			21	2654	-			855					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2565G>C	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024771	0.75390	.	.	ENSG00000118898	ENST00000345988	T	0.64618	-0.11	5.68	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.76002	2.32	0.51012	D	0.9999	D	0.71674	0.998	D	0.79784	0.993	T	0.80810	-0.1216	10	0.87932	D	0	.	15.5277	0.75925	0.0:0.9231:0.0:0.0769	.	855	O60437	PEPL_HUMAN	H	855	ENSP00000340510:Q855H	ENSP00000340510:Q855H	Q	-	3	2	PPL	4877179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.279000	0.33191	2.689000	0.91719	0.655000	0.94253	CAG		0.463	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		17	275	0	0	0	1	0	17	275				
SEC31A	22872	broad.mit.edu	37	4	83784530	83784530	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:83784530C>T	ENST00000395310.2	-	12	1632	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	SEC31A_ENST00000508479.1_Missense_Mutation_p.D484N|SEC31A_ENST00000443462.2_Missense_Mutation_p.D479N|SEC31A_ENST00000505472.1_Missense_Mutation_p.D484N|SEC31A_ENST00000311785.7_Missense_Mutation_p.D484N|SEC31A_ENST00000509142.1_Missense_Mutation_p.D484N|SEC31A_ENST00000508502.1_Missense_Mutation_p.D484N|SEC31A_ENST00000500777.2_Missense_Mutation_p.D484N|SEC31A_ENST00000432794.1_Missense_Mutation_p.D484N|SEC31A_ENST00000448323.1_Missense_Mutation_p.D484N|SEC31A_ENST00000264405.5_Missense_Mutation_p.D256N|SEC31A_ENST00000505984.1_Missense_Mutation_p.D484N|SEC31A_ENST00000513858.1_Missense_Mutation_p.D484N|SEC31A_ENST00000326950.5_Missense_Mutation_p.D484N|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000348405.4_Missense_Mutation_p.D484N|SEC31A_ENST00000355196.2_Missense_Mutation_p.D484N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	484					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CCACGAGAATCATCCTCAAAG	0.308																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1450-1452)Gat>Aat		SEC31 homolog A (S. cerevisiae)							90.0	92.0	92.0					4																	83784530		2202	4296	6498	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83784530C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1450G>A	4.37:g.83784530C>T	ENSP00000378721:p.Asp484Asn					SEC31A_ENST00000508479.1_Missense_Mutation_p.D484N|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000326950.5_Missense_Mutation_p.D484N|SEC31A_ENST00000505472.1_Missense_Mutation_p.D484N|SEC31A_ENST00000448323.1_Missense_Mutation_p.D484N|SEC31A_ENST00000505984.1_Missense_Mutation_p.D484N|SEC31A_ENST00000508502.1_Missense_Mutation_p.D484N|SEC31A_ENST00000395310.2_Missense_Mutation_p.D484N|SEC31A_ENST00000355196.2_Missense_Mutation_p.D484N|SEC31A_ENST00000264405.5_Missense_Mutation_p.D256N|SEC31A_ENST00000443462.2_Missense_Mutation_p.D479N|SEC31A_ENST00000348405.4_Missense_Mutation_p.D484N|SEC31A_ENST00000500777.2_Missense_Mutation_p.D484N|SEC31A_ENST00000311785.7_Missense_Mutation_p.D484N|SEC31A_ENST00000513858.1_Missense_Mutation_p.D484N|SEC31A_ENST00000509142.1_Missense_Mutation_p.D484N	p.D484N			O94979	SC31A_HUMAN			12	1613	-		Hepatocellular(203;0.114)	484					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.1450G>A	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280544	0.80692	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.31;1.18;2.41;2.39;1.26;2.35;2.41;1.31;1.26;1.2;1.18;2.37;2.41;3.18;2.32;2.26;2.17	5.23	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	L	0.41415	1.275	0.80722	D	1	D;P;D;D;P;B;D;D;B;D	0.89917	0.999;0.852;0.998;1.0;0.754;0.357;0.999;0.999;0.22;1.0	D;B;D;D;P;B;D;D;B;D	0.87578	0.968;0.267;0.995;0.998;0.525;0.321;0.979;0.998;0.171;0.994	T	0.33879	-0.9851	10	0.23891	T	0.37	-15.2548	14.0916	0.64995	0.0:0.9272:0.0:0.0728	.	479;484;484;484;484;484;484;484;484;256	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	N	484;484;484;479;484;484;484;484;484;484;484;484;484;256;484;484;85	ENSP00000337602:D484N;ENSP00000426886:D484N;ENSP00000378721:D484N;ENSP00000408027:D479N;ENSP00000426569:D484N;ENSP00000407944:D484N;ENSP00000400926:D484N;ENSP00000325087:D484N;ENSP00000309070:D484N;ENSP00000421633:D484N;ENSP00000421464:D484N;ENSP00000424635:D484N;ENSP00000347329:D484N;ENSP00000264405:D256N;ENSP00000424451:D484N;ENSP00000425999:D484N;ENSP00000422267:D85N	ENSP00000264405:D256N	D	-	1	0	SEC31A	84003554	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.819000	0.69243	1.355000	0.45865	-0.373000	0.07131	GAT		0.308	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	138	0	0	0	1	0	7	138				
FAM13B	51306	broad.mit.edu	37	5	137342716	137342716	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:137342716C>T	ENST00000033079.3	-	7	1262	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM13B_ENST00000420893.2_Missense_Mutation_p.E271K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E153K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	271					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AGGATGTTTTCAGTCATCCTT	0.378																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(811-813)Gaa>Aaa		family with sequence similarity 13, member B							226.0	202.0	210.0					5																	137342716		2203	4300	6503	SO:0001583	missense	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137342716C>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.811G>A	5.37:g.137342716C>T	ENSP00000033079:p.Glu271Lys					FAM13B_ENST00000420893.2_Missense_Mutation_p.E271K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E153K	p.E271K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			7	1262	-			271					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.811G>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903608	0.92035	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.24723	3.01;1.84;3.01	5.82	5.82	0.92795	.	0.522285	0.21102	N	0.080153	T	0.24661	0.0598	N	0.25647	0.755	0.40852	D	0.983768	P;B;P	0.46142	0.873;0.447;0.501	P;B;B	0.44811	0.461;0.109;0.107	T	0.01702	-1.1292	10	0.23302	T	0.38	-13.3445	18.2743	0.90078	0.0:1.0:0.0:0.0	.	153;271;271	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	K	271;153;271	ENSP00000033079:E271K;ENSP00000394669:E153K;ENSP00000388521:E271K	ENSP00000033079:E271K	E	-	1	0	FAM13B	137370615	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.240000	0.51368	2.757000	0.94681	0.585000	0.79938	GAA		0.378	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			7	136	0	0	0	1	0	7	136				
ARMC7	79637	broad.mit.edu	37	17	73106605	73106605	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:73106605C>A	ENST00000245543.1	+	2	441	c.139C>A	c.(139-141)Ccc>Acc	p.P47T	ARMC7_ENST00000582136.1_Missense_Mutation_p.P47T|ARMC7_ENST00000584947.1_Missense_Mutation_p.P47T|ARMC7_ENST00000581078.1_Missense_Mutation_p.P47T	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	47						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CGCTTATGACCCCAGCAACTA	0.577																																						ENST00000245543.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9						c.(139-141)Ccc>Acc		armadillo repeat containing 7							89.0	84.0	86.0					17																	73106605		2203	4300	6503	SO:0001583	missense	79637						binding	g.chr17:73106605C>A	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.139C>A	17.37:g.73106605C>A	ENSP00000245543:p.Pro47Thr					ARMC7_ENST00000582136.1_Missense_Mutation_p.P47T|ARMC7_ENST00000581078.1_Missense_Mutation_p.P47T|ARMC7_ENST00000584947.1_Missense_Mutation_p.P47T	p.P47T	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	441	+	all_lung(278;0.14)|Lung NSC(278;0.168)		47					B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.139C>A	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745880	0.69418	.	.	ENSG00000125449	ENST00000245543	T	0.55052	0.54	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80195	-0.1483	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	47;47	B4DVA4;Q9H6L4	.;ARMC7_HUMAN	T	47	ENSP00000245543:P47T	ENSP00000245543:P47T	P	+	1	0	ARMC7	70618200	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.466000	0.80914	2.884000	0.98904	0.655000	0.94253	CCC		0.577	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		7	96	1	0	0.000157383	1	0.000160051	7	96				
WHAMMP3	339005	broad.mit.edu	37	15	23205193	23205193	+	RNA	SNP	A	A	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:23205193A>G	ENST00000400153.2	-	0	661					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GGTGTCCTTGAATAACCTAGA	0.398																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205193A>G	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205193A>G								NR_003521.1						0	661	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.398	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	28	0	0	0	1	0	3	28				
ECD	11319	broad.mit.edu	37	10	74914175	74914175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:74914175G>A	ENST00000372979.4	-	6	828	c.622C>T	c.(622-624)Cga>Tga	p.R208*	ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_Nonsense_Mutation_p.R208*|ECD_ENST00000430082.2_Nonsense_Mutation_p.R208*	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	208					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CAGTGTGCTCGATGAAGTGAG	0.443																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(622-624)Cga>Tga		ecdysoneless homolog (Drosophila)							52.0	55.0	54.0					10																	74914175		2203	4300	6503	SO:0001587	stop_gained	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74914175G>A	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.622C>T	10.37:g.74914175G>A	ENSP00000362070:p.Arg208*					ECD_ENST00000430082.1_Nonsense_Mutation_p.R208*|ECD_ENST00000454759.1_Nonsense_Mutation_p.R208*	p.R208*	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			6	828	-	Prostate(51;0.0119)		208					C9JX46|E9PAW8	Nonsense_Mutation	SNP	ENST00000372979.4	37	c.622C>T	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742807	0.69418	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	.	.	.	5.2	3.31	0.37934	.	0.326898	0.33005	N	0.005393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-2.0352	11.5256	0.50578	0.0:0.0:0.5314:0.4686	.	.	.	.	X	208;208;208;134;182	.	ENSP00000362070:R208X	R	-	1	2	ECD	74584181	1.000000	0.71417	0.988000	0.46212	0.601000	0.36947	4.356000	0.59430	0.544000	0.28883	-0.158000	0.13435	CGA		0.443	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		5	63	0	0	0	1	0	5	63				
ADAMTS10	81794	broad.mit.edu	37	19	8656945	8656945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:8656945C>T	ENST00000597188.1	-	14	1900	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E544K|ADAMTS10_ENST00000595838.1_Silent_p.Q34Q	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	544	Disintegrin.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCACACCCTCTGGGCGCGAC	0.687																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1630-1632)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 10							26.0	29.0	28.0					19																	8656945		2201	4297	6498	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8656945C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1630G>A	19.37:g.8656945C>T	ENSP00000471851:p.Glu544Lys					ADAMTS10_ENST00000595838.1_Silent_p.Q34Q|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E544K	p.E544K			Q9H324	ATS10_HUMAN			13	1896	-			544			Disintegrin.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1630G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468584	0.43839	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.59772	0.24	4.63	3.57	0.40892	.	0.139271	0.47852	D	0.000219	T	0.43500	0.1250	L	0.35854	1.095	0.80722	D	1	B;B	0.25272	0.122;0.038	B;B	0.18561	0.015;0.022	T	0.23297	-1.0192	10	0.11182	T	0.66	.	13.6096	0.62068	0.0:0.8429:0.1571:0.0	.	298;544	Q59FE5;Q9H324	.;ATS10_HUMAN	K	544;298	ENSP00000270328:E544K	ENSP00000270328:E544K	E	-	1	0	ADAMTS10	8562945	1.000000	0.71417	0.539000	0.28077	0.119000	0.20118	4.428000	0.59894	0.904000	0.36572	0.467000	0.42956	GAG		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		4	56	0	0	0	1	0	4	56				
EPB41L5	57669	broad.mit.edu	37	2	120885271	120885271	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:120885271C>T	ENST00000263713.5	+	17	1559	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	EPB41L5_ENST00000443902.2_Silent_p.L449L|EPB41L5_ENST00000452780.1_Silent_p.L449L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	449					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAGCATTCCTCTGAATATTGA	0.373																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1345-1347)Ctg>Ttg		erythrocyte membrane protein band 4.1 like 5							139.0	132.0	134.0					2																	120885271		2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120885271C>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1345C>T	2.37:g.120885271C>T						EPB41L5_ENST00000452780.1_Silent_p.L449L|EPB41L5_ENST00000443902.2_Silent_p.L449L	p.L449L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			17	1559	+			449					Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.1345C>T	CCDS2130.1																																																																																				0.373	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		8	189	0	0	0	1	0	8	189				
SLC39A10	57181	broad.mit.edu	37	2	196571476	196571476	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:196571476G>A	ENST00000409086.3	+	4	1628	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	SLC39A10_ENST00000541054.1_Start_Codon_SNP_p.M1I|SLC39A10_ENST00000359634.5_Missense_Mutation_p.M451I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	451					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TAGGAACAATGAGTGGAGACG	0.368																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1351-1353)atG>atA		solute carrier family 39 (zinc transporter), member 10							125.0	106.0	113.0					2																	196571476		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196571476G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1353G>A	2.37:g.196571476G>A	ENSP00000386766:p.Met451Ile					SLC39A10_ENST00000541054.1_Start_Codon_SNP_p.M1I|SLC39A10_ENST00000359634.5_Missense_Mutation_p.M451I	p.M451I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		4	1628	+			451					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1353G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450864	0.63290	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.44881	0.91;0.91;0.91	4.45	4.45	0.53987	.	0.049491	0.85682	D	0.000000	T	0.41994	0.1183	L	0.52905	1.665	0.80722	D	1	B	0.31256	0.316	B	0.35470	0.203	T	0.48186	-0.9057	10	0.87932	D	0	.	13.068	0.59045	0.0:0.1615:0.8385:0.0	.	451	Q9ULF5	S39AA_HUMAN	I	451;451;1	ENSP00000386766:M451I;ENSP00000352655:M451I;ENSP00000437787:M1I	ENSP00000352655:M451I	M	+	3	0	SLC39A10	196279721	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.679000	0.46909	2.325000	0.78763	0.313000	0.20887	ATG		0.368	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		15	157	0	0	0	1	0	15	157				
ZNF660	285349	broad.mit.edu	37	3	44635767	44635767	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:44635767G>A	ENST00000322734.2	+	3	415	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCAAGAATCTGAAAAAGACAA	0.393																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(82-84)Gaa>Aaa		zinc finger protein 660							111.0	108.0	109.0					3																	44635767		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635767G>A	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.82G>A	3.37:g.44635767G>A	ENSP00000324605:p.Glu28Lys					RP11-944L7.4_ENST00000457331.1_RNA	p.E28K	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	415	+			28					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.82G>A	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510495	0.44660	.	.	ENSG00000144792	ENST00000416644;ENST00000441021;ENST00000322734	T	0.07327	3.2	4.65	3.78	0.43462	.	.	.	.	.	T	0.04452	0.0122	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	8	.	.	.	.	12.122	0.53897	0.0855:0.0:0.9145:0.0	.	28	Q6AZW8	ZN660_HUMAN	K	28	ENSP00000324605:E28K	.	E	+	1	0	ZNF660	44610771	0.778000	0.28640	0.958000	0.39756	0.857000	0.48899	1.815000	0.38981	1.319000	0.45190	-0.140000	0.14226	GAA		0.393	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		6	88	0	0	0	1	0	6	88				
ANK2	287	broad.mit.edu	37	4	114276810	114276810	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:114276810G>C	ENST00000357077.4	+	38	7089	c.7036G>C	c.(7036-7038)Gag>Cag	p.E2346Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2313Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2346					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)		ACTGACTGAGGAGGCAGCCTG	0.488																																						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.(7036-7038)Gag>Cag		ankyrin 2, neuronal							89.0	80.0	83.0					4																	114276810		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114276810G>C	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.7036G>C	4.37:g.114276810G>C	ENSP00000349588:p.Glu2346Gln					ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2313Q|ANK2_ENST00000510275.2_Intron	p.E2346Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7089	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2313					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7036G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	0.581	-0.836984	0.02692	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66815	-0.21;-0.23	5.79	2.15	0.27550	.	1.071920	0.07343	N	0.881027	T	0.61565	0.2357	L	0.54323	1.7	0.20074	N	0.999931	B;B	0.27416	0.112;0.178	B;B	0.27380	0.036;0.079	T	0.46679	-0.9174	9	.	.	.	.	9.3309	0.38021	0.4209:0.0:0.5791:0.0	.	2313;2346	Q01484;Q01484-4	ANK2_HUMAN;.	Q	2346;2313	ENSP00000349588:E2346Q;ENSP00000264366:E2313Q	.	E	+	1	0	ANK2	114496259	0.420000	0.25457	0.023000	0.16930	0.027000	0.11550	0.565000	0.23578	0.087000	0.17167	0.655000	0.94253	GAG		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	47	0	0	0	1	0	4	47				
IQGAP3	128239	broad.mit.edu	37	1	156502888	156502888	+	Silent	SNP	G	G	A	rs139057334	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:156502888G>A	ENST00000361170.2	-	32	3997	c.3987C>T	c.(3985-3987)atC>atT	p.I1329I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1329					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCTGCAGCGATGCTCTCAC	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		24789	0.0		0.002	False		,,,				2504	0.0					ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(3985-3987)atC>atT		IQ motif containing GTPase activating protein 3		G		0,4406		0,0,2203	256.0	183.0	208.0		3987	-4.8	0.0	1	dbSNP_134	208	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	IQGAP3	NM_178229.4		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		1329/1632	156502888	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156502888G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3987C>T	1.37:g.156502888G>A							p.I1329I	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			32	3997	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1329					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.3987C>T	CCDS1144.1																																																																																				0.547	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		17	148	0	0	0	1	0	17	148				
FN1	2335	broad.mit.edu	37	2	216274733	216274733	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:216274733G>A	ENST00000359671.1	-	14	2311	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	FN1_ENST00000357009.2_Silent_p.I682I|FN1_ENST00000336916.4_Silent_p.I682I|FN1_ENST00000421182.1_Silent_p.I682I|FN1_ENST00000354785.4_Silent_p.I682I|FN1_ENST00000323926.6_Silent_p.I682I|FN1_ENST00000432072.2_Silent_p.I682I|FN1_ENST00000345488.5_Silent_p.I682I|FN1_ENST00000346544.3_Silent_p.I682I|FN1_ENST00000357867.4_Silent_p.I682I|FN1_ENST00000446046.1_Silent_p.I682I|FN1_ENST00000443816.1_Silent_p.I682I|FN1_ENST00000356005.4_Silent_p.I682I			P02751	FINC_HUMAN	fibronectin 1	682	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCTGGATGCTGATGAGCTGGC	0.537																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(2044-2046)atC>atT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						293.0	280.0	284.0					2																	216274733		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216274733G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2046C>T	2.37:g.216274733G>A						FN1_ENST00000323926.6_Silent_p.I682I|FN1_ENST00000345488.5_Silent_p.I682I|FN1_ENST00000336916.4_Silent_p.I682I|FN1_ENST00000357009.2_Silent_p.I682I|FN1_ENST00000446046.1_Silent_p.I682I|FN1_ENST00000432072.2_Silent_p.I682I|FN1_ENST00000443816.1_Silent_p.I682I|FN1_ENST00000346544.3_Silent_p.I682I|FN1_ENST00000359671.1_Silent_p.I682I|FN1_ENST00000357867.4_Silent_p.I682I|FN1_ENST00000421182.1_Silent_p.I682I|FN1_ENST00000356005.4_Silent_p.I682I	p.I682I			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	14	2415	-		Renal(323;0.127)	682			Fibronectin type-III 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.2046C>T																																																																																					0.537	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		7	140	0	0	0	1	0	7	140				
ZNF91	7644	broad.mit.edu	37	19	23543349	23543349	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:23543349G>C	ENST00000300619.7	-	4	2637	c.2432C>G	c.(2431-2433)tCa>tGa	p.S811*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S779*|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	811					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTAAGGGTTGAGGAACGGCT	0.408																																						ENST00000300619.7																			0											c.(2431-2433)tCa>tGa		zinc finger protein 91							70.0	74.0	73.0					19																	23543349		2184	4284	6468	SO:0001587	stop_gained	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543349G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2432C>G	19.37:g.23543349G>C	ENSP00000300619:p.Ser811*					ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S779*|ZNF91_ENST00000599743.1_Intron	p.S811*	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2637	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	811					A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	ENST00000300619.7	37	c.2432C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094374	0.76870	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	0.964	0.964	0.19655	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.4179	0.38532	0.0:0.0:1.0:0.0	.	.	.	.	X	811;779	.	ENSP00000300619:S811X	S	-	2	0	ZNF91	23335189	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-1.133000	0.03232	0.798000	0.33994	0.205000	0.17691	TCA		0.408	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	128	0	0	0	1	0	4	128				
OR8H3	390152	broad.mit.edu	37	11	55890051	55890051	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:55890051C>T	ENST00000313472.3	+	1	203	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S68*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTCACCTGTCATTTATTGAC	0.438																																						ENST00000313472.3																			1	Substitution - Nonsense(1)	p.S68*(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(202-204)tCa>tTa		olfactory receptor, family 8, subfamily H, member 3							240.0	239.0	239.0					11																	55890051		2201	4293	6494	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890051C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.203C>T	11.37:g.55890051C>T	ENSP00000323928:p.Ser68Leu						p.S68L	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	203	+	Esophageal squamous(21;0.00693)		68					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.203C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875406	0.33162	.	.	ENSG00000181761	ENST00000313472	T	0.12255	2.7	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000576	T	0.51363	0.1670	H	0.97340	3.985	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.60576	-0.7236	10	0.87932	D	0	.	15.3063	0.73995	0.0:1.0:0.0:0.0	.	68	Q8N146	OR8H3_HUMAN	L	68	ENSP00000323928:S68L	ENSP00000323928:S68L	S	+	2	0	OR8H3	55646627	0.002000	0.14202	0.994000	0.49952	0.140000	0.21249	1.866000	0.39489	1.621000	0.50320	0.173000	0.16961	TCA		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		18	391	0	0	0	1	0	18	391				
KMT2A	4297	broad.mit.edu	37	11	118344632	118344632	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:118344632G>C	ENST00000389506.5	+	3	2758	c.2758G>C	c.(2758-2760)Gat>Cat	p.D920H	KMT2A_ENST00000534358.1_Missense_Mutation_p.D920H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D920H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	920					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.D920Y(2)									TGTTGGTGAAGATGTTGCCAC	0.433																																						ENST00000534358.1																			2	Substitution - Missense(2)	p.D920Y(2)	lung(2)								c.(2758-2760)Gat>Cat		lysine (K)-specific methyltransferase 2A							119.0	118.0	118.0					11																	118344632		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118344632G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2758G>C	11.37:g.118344632G>C	ENSP00000374157:p.Asp920His					KMT2A_ENST00000389506.5_Missense_Mutation_p.D920H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D920H	p.D920H	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2781	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.2758G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943883	0.34283	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.84660	-1.88;1.92;-1.88;-1.86	5.56	5.56	0.83823	.	0.108730	0.64402	D	0.000008	D	0.84129	0.5404	N	0.19112	0.55	0.58432	D	0.999997	P;D;D	0.63880	0.8;0.98;0.993	B;P;P	0.52710	0.436;0.707;0.707	D	0.85698	0.1311	10	0.56958	D	0.05	.	19.8927	0.96935	0.0:0.0:1.0:0.0	.	920;920;953	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	H	920;953;920;920	ENSP00000436786:D920H;ENSP00000432391:D953H;ENSP00000374157:D920H;ENSP00000346516:D920H	ENSP00000346516:D920H	D	+	1	0	MLL	117849842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.117000	0.94347	2.781000	0.95711	0.591000	0.81541	GAT		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		7	104	0	0	0	1	0	7	104				
ARFGAP3	26286	broad.mit.edu	37	22	43230262	43230262	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:43230262G>A	ENST00000263245.5	-	5	682	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	ARFGAP3_ENST00000429508.2_Intron|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.H111Y	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	155					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GGAGAAACGTGAGAGGCAAAA	0.408																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(463-465)Cac>Tac		ADP-ribosylation factor GTPase activating protein 3							166.0	167.0	166.0					22																	43230262		2203	4300	6503	SO:0001583	missense	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43230262G>A	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.463C>T	22.37:g.43230262G>A	ENSP00000263245:p.His155Tyr					ARFGAP3_ENST00000437119.2_Missense_Mutation_p.H111Y|ARFGAP3_ENST00000429508.2_Intron	p.H155Y	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			5	682	-			155					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	c.463C>T	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942706	0.73672	.	.	ENSG00000242247	ENST00000263245;ENST00000437119	T;T	0.05649	3.43;3.41	4.81	4.81	0.61882	.	0.132881	0.50627	D	0.000105	T	0.27798	0.0684	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.79784	0.969;0.993	T	0.02047	-1.1223	10	0.56958	D	0.05	-2.8299	17.6513	0.88164	0.0:0.0:1.0:0.0	.	111;155	E9PB03;Q9NP61	.;ARFG3_HUMAN	Y	155;111	ENSP00000263245:H155Y;ENSP00000388791:H111Y	ENSP00000263245:H155Y	H	-	1	0	ARFGAP3	41560206	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	6.006000	0.70724	2.486000	0.83907	0.650000	0.86243	CAC		0.408	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		8	195	0	0	0	1	0	8	195				
DAXX	1616	broad.mit.edu	37	6	33287244	33287244	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:33287244G>A	ENST00000374542.5	-	6	2057	c.1853C>T	c.(1852-1854)tCt>tTt	p.S618F	DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S543F|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.S618F|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	618	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GTTGTGAGGAGAGACGCCTCC	0.493			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1852-1854)tCt>tTt		death-domain associated protein							98.0	105.0	103.0					6																	33287244		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287244G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1853C>T	6.37:g.33287244G>A	ENSP00000363668:p.Ser618Phe					DAXX_ENST00000414083.2_Missense_Mutation_p.S543F|DAXX_ENST00000266000.6_Missense_Mutation_p.S618F	p.S618F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	2057	-			618			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1853C>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011262	0.35511	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	3.8	0.43715	.	0.590894	0.16699	N	0.203217	T	0.34308	0.0893	M	0.65975	2.015	0.33816	D	0.628446	P;P	0.35714	0.517;0.517	B;B	0.35931	0.214;0.214	T	0.39014	-0.9634	9	0.72032	D	0.01	-11.179	8.5761	0.33598	0.1037:0.0:0.8963:0.0	.	630;618	B4E1C1;Q9UER7	.;DAXX_HUMAN	F	618;618;543	.	ENSP00000266000:S618F	S	-	2	0	DAXX	33395222	1.000000	0.71417	0.993000	0.49108	0.155000	0.21991	4.504000	0.60414	1.208000	0.43306	-0.148000	0.13756	TCT		0.493	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	145	0	0	0	1	0	4	145				
RHOBTB1	9886	broad.mit.edu	37	10	62648292	62648292	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:62648292G>A	ENST00000337910.5	-	6	1471	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	RHOBTB1_ENST00000357917.4_Silent_p.F378F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	378	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCATGCCAATGAACCCCTTAC	0.557																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1132-1134)ttC>ttT		Rho-related BTB domain containing 1							90.0	94.0	93.0					10																	62648292		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648292G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1134C>T	10.37:g.62648292G>A						RHOBTB1_ENST00000357917.4_Silent_p.F378F	p.F378F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	1471	-	Prostate(12;0.0112)		378			BTB 1.			Silent	SNP	ENST00000337910.5	37	c.1134C>T	CCDS7261.1																																																																																				0.557	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			6	110	0	0	0	1	0	6	110				
CD209	30835	broad.mit.edu	37	19	7812273	7812273	+	Intron	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:7812273C>T	ENST00000315599.7	-	2	69				CD209_ENST00000601951.1_Missense_Mutation_p.D9N|CD209_ENST00000601256.1_Missense_Mutation_p.D9N|CD209_ENST00000593821.1_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.D9N|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule						antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACGTGAAATCAGAGCCTGGG	0.587																																						ENST00000593660.1																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(25-27)Gat>Aat		CD209 molecule							246.0	250.0	249.0					19																	7812273		2203	4300	6503	SO:0001627	intron_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812273C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.47-22G>A	19.37:g.7812273C>T						CD209_ENST00000315591.8_Intron|CD209_ENST00000315599.7_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.D9N|CD209_ENST00000354397.6_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.D9N|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000602261.1_Intron	p.D9N			Q9NNX6	CD209_HUMAN			1	124	-			0					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.25G>A	CCDS12186.1																																																																																				0.587	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		19	333	0	0	0	1	0	19	333				
ZCCHC5	203430	broad.mit.edu	37	X	77913882	77913882	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:77913882C>T	ENST00000321110.1	-	2	331	c.36G>A	c.(34-36)ctG>ctA	p.L12L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	12							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						TCTCCAATTTCAGAACAATAT	0.473																																						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.(34-36)ctG>ctA		zinc finger, CCHC domain containing 5							47.0	39.0	42.0					X																	77913882		2203	4300	6503	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77913882C>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.36G>A	X.37:g.77913882C>T							p.L12L	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	331	-			12					B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.36G>A	CCDS14440.1																																																																																				0.473	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		3	23	0	0	0	1	0	3	23				
SERPINA5	5104	broad.mit.edu	37	14	95058471	95058471	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:95058471C>T	ENST00000554866.1	+	5	1230	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	RP11-986E7.7_ENST00000553947.1_Missense_Mutation_p.S26L|SERPINA5_ENST00000554276.1_Silent_p.F372F|SERPINA5_ENST00000553780.1_Silent_p.F372F|SERPINA5_ENST00000329597.7_Silent_p.F372F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	372					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TATTCACTTTCAGGTCGGCCC	0.557																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1114-1116)ttC>ttT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						200.0	206.0	204.0					14																	95058471		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058471C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1116C>T	14.37:g.95058471C>T						SERPINA5_ENST00000554276.1_Silent_p.F372F|SERPINA5_ENST00000554866.1_Silent_p.F372F|SERPINA5_ENST00000553780.1_Silent_p.F372F|SERPINA3_ENST00000553947.1_5'UTR	p.F372F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1326	+			372					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.1116C>T	CCDS9928.1																																																																																				0.557	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		20	405	0	0	0	1	0	20	405				
BCO2	83875	broad.mit.edu	37	11	112065459	112065459	+	Silent	SNP	G	G	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:112065459G>T	ENST00000357685.5	+	5	852	c.717G>T	c.(715-717)ggG>ggT	p.G239G	BCO2_ENST00000361053.4_Intron|BCO2_ENST00000438022.1_Silent_p.G205G|AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000531169.1_Silent_p.G205G|BCO2_ENST00000393032.2_Silent_p.G205G|BCO2_ENST00000532593.1_Silent_p.G134G|BCO2_ENST00000526088.1_Silent_p.G205G			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	239					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ACAATATGGGGAACTCCTTTG	0.393																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(715-717)ggG>ggT		beta-carotene oxygenase 2							158.0	147.0	151.0					11																	112065459		2201	4297	6498	SO:0001819	synonymous_variant	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112065459G>T	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.717G>T	11.37:g.112065459G>T						BCO2_ENST00000532593.1_Silent_p.G134G|BCO2_ENST00000438022.1_Silent_p.G205G|BCO2_ENST00000361053.4_Intron|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000393032.2_Silent_p.G205G|BCO2_ENST00000531169.1_Silent_p.G205G|BCO2_ENST00000526088.1_Silent_p.G205G	p.G239G			Q9BYV7	BCDO2_HUMAN			5	852	+			239					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	ENST00000357685.5	37	c.717G>T	CCDS8358.2																																																																																				0.393	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		7	138	1	0	1.12685e-05	1	1.14811e-05	7	138				
DLGAP1	9229	broad.mit.edu	37	18	3879988	3879988	+	Silent	SNP	G	G	A	rs200480488		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:3879988G>A	ENST00000315677.3	-	4	676	c.81C>T	c.(79-81)tcC>tcT	p.S27S	DLGAP1_ENST00000584874.1_Silent_p.S27S|DLGAP1_ENST00000581527.1_Silent_p.S27S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.S27S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	27					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCTTGCGGTCGGAGTGGTGCG	0.667																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(79-81)tcC>tcT		discs, large (Drosophila) homolog-associated protein 1							49.0	44.0	46.0					18																	3879988		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879988G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.81C>T	18.37:g.3879988G>A						DLGAP1_ENST00000581527.1_Silent_p.S27S|DLGAP1_ENST00000584874.1_Silent_p.S27S|DLGAP1_ENST00000515196.2_Silent_p.S27S|DLGAP1-AS3_ENST00000577649.1_RNA	p.S27S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	676	-		Colorectal(8;0.0257)	27					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.81C>T	CCDS11836.1																																																																																				0.667	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			10	70	0	0	0	1	0	10	70				
C15orf39	56905	broad.mit.edu	37	15	75498768	75498768	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:75498768C>G	ENST00000360639.2	+	2	699	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V	C15orf39_ENST00000394987.4_Missense_Mutation_p.L127V|C15orf39_ENST00000567617.1_Missense_Mutation_p.L127V			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	127						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGGCCCACCACTGGCAGCACC	0.607																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(379-381)Ctg>Gtg		chromosome 15 open reading frame 39							44.0	42.0	42.0					15																	75498768		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75498768C>G	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.379C>G	15.37:g.75498768C>G	ENSP00000353854:p.Leu127Val					C15orf39_ENST00000394987.4_Missense_Mutation_p.L127V|C15orf39_ENST00000567617.1_Missense_Mutation_p.L127V	p.L127V			Q6ZRI6	CO039_HUMAN			2	699	+			127					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.379C>G	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581631	0.28180	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.71461	-0.57;-0.57	5.13	4.18	0.49190	.	0.353878	0.22572	N	0.058328	T	0.79393	0.4438	L	0.60455	1.87	0.33427	D	0.580625	D	0.76494	0.999	D	0.80764	0.994	D	0.84007	0.0346	10	0.66056	D	0.02	-13.9942	9.9086	0.41392	0.0:0.8992:0.0:0.1008	.	127	Q6ZRI6	CO039_HUMAN	V	127	ENSP00000353854:L127V;ENSP00000378438:L127V	ENSP00000353854:L127V	L	+	1	2	C15orf39	73285821	0.976000	0.34144	0.974000	0.42286	0.448000	0.32197	1.369000	0.34227	1.097000	0.41459	0.561000	0.74099	CTG		0.607	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		4	41	0	0	0	1	0	4	41				
MECR	51102	broad.mit.edu	37	1	29542604	29542604	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:29542604C>T	ENST00000263702.6	-	3	344	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	MECR_ENST00000373791.3_Missense_Mutation_p.E31K|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	107					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCAACACCTTCGTTCCCTCCA	0.527																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(91-93)Gaa>Aaa		mitochondrial trans-2-enoyl-CoA reductase							147.0	129.0	135.0					1																	29542604		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29542604C>T		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.319G>A	1.37:g.29542604C>T	ENSP00000263702:p.Glu107Lys					MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.E107K	p.E31K	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	3	463	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	107					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.91G>A	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793069	0.96952	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792	T;T	0.68624	-0.34;-0.34	5.53	5.53	0.82687	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93109	0.6515	10	0.87932	D	0	-12.2057	16.963	0.86278	0.0:1.0:0.0:0.0	.	107	Q9BV79	MECR_HUMAN	K	31;107;19	ENSP00000362896:E31K;ENSP00000263702:E107K	ENSP00000263702:E107K	E	-	1	0	MECR	29415191	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	6.979000	0.76154	2.617000	0.88574	0.549000	0.68633	GAA		0.527	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		6	103	0	0	0	1	0	6	103				
PYCR2	29920	broad.mit.edu	37	1	226108948	226108948	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:226108948G>A	ENST00000343818.6	-	6	905	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	RP4-559A3.7_ENST00000432920.2_Silent_p.L179L|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	253					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	TTGATGAGCAGAGAGCGGAAG	0.602																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(757-759)Ctg>Ttg		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						63.0	65.0	64.0					1																	226108948		2203	4300	6503	SO:0001819	synonymous_variant	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226108948G>A	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.757C>T	1.37:g.226108948G>A						RP4-559A3.7_ENST00000432920.2_Silent_p.L179L|PYCR2_ENST00000478402.1_5'UTR	p.L253L	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			6	905	-	Breast(184;0.197)		253					A8K798|Q7Z515|Q9Y5J4	Silent	SNP	ENST00000343818.6	37	c.757C>T	CCDS31043.1																																																																																				0.602	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		5	41	0	0	0	1	0	5	41				
OR2B6	26212	broad.mit.edu	37	6	27925696	27925696	+	Silent	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:27925696G>A	ENST00000244623.1	+	1	678	c.678G>A	c.(676-678)ttG>ttA	p.L226L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGCAGTATTGAGGATACAGT	0.428																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(676-678)ttG>ttA		olfactory receptor, family 2, subfamily B, member 6							185.0	181.0	183.0					6																	27925696		2203	4300	6503	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925696G>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.678G>A	6.37:g.27925696G>A							p.L226L	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	678	+			226					O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.678G>A	CCDS4642.1																																																																																				0.428	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			8	234	0	0	0	1	0	8	234				
ZNF112	7771	broad.mit.edu	37	19	44833880	44833880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:44833880G>A	ENST00000337401.4	-	5	536	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	ZNF112_ENST00000354340.4_Nonsense_Mutation_p.Q144*|CTC-512J12.6_ENST00000588212.1_Nonsense_Mutation_p.Q149*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q167*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCAGAAATCTGAACTGGTATT	0.393																																						ENST00000354340.4																			0											c.(430-432)Cag>Tag		zinc finger protein 112							51.0	52.0	52.0					19																	44833880		2202	4300	6502	SO:0001587	stop_gained	7665							g.chr19:44833880G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.448C>T	19.37:g.44833880G>A	ENSP00000337081:p.Gln150*					ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q150*|CTC-512J12.6_ENST00000588212.1_Nonsense_Mutation_p.Q149*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q167*	p.Q144*	NM_013380.3	NP_037512.3					4	481	-								A4FU53|Q9HCA7	Nonsense_Mutation	SNP	ENST00000337401.4	37	c.430C>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653300	0.88056	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	4.29	4.29	0.51040	.	0.259854	0.20429	N	0.092505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-0.05	12.8971	0.58106	0.0:0.1653:0.8347:0.0	.	.	.	.	X	150;150;144;167;149	.	ENSP00000253426:Q149X	Q	-	1	0	ZNF285	49525720	0.248000	0.23930	0.708000	0.30435	0.905000	0.53344	2.315000	0.43752	2.687000	0.91594	0.561000	0.74099	CAG		0.393	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		5	103	0	0	0	1	0	5	103				
OR4C12	283093	broad.mit.edu	37	11	50003584	50003584	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:50003584G>A	ENST00000335238.4	-	1	487	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTTGCATGAAGAAATCCTCCC	0.483																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(454-456)Ctt>Ttt		olfactory receptor, family 4, subfamily C, member 12							146.0	151.0	149.0					11																	50003584		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003584G>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.454C>T	11.37:g.50003584G>A	ENSP00000334418:p.Leu152Phe						p.L152F	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	487	-			152					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.454C>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	6.342	0.431144	0.12045	.	.	ENSG00000221954	ENST00000335238	T	0.46451	0.87	2.98	-0.439	0.12264	GPCR, rhodopsin-like superfamily (1);	0.198286	0.24422	N	0.038667	T	0.36826	0.0981	L	0.48642	1.525	0.26774	N	0.96974	B	0.23990	0.095	B	0.37451	0.25	T	0.41197	-0.9522	10	0.54805	T	0.06	.	6.7506	0.23485	0.1181:0.5442:0.3377:0.0	.	152	Q96R67	OR4CC_HUMAN	F	152	ENSP00000334418:L152F	ENSP00000334418:L152F	L	-	1	0	OR4C12	49960160	0.000000	0.05858	0.993000	0.49108	0.222000	0.24845	-2.919000	0.00694	-0.182000	0.10602	0.398000	0.26397	CTT		0.483	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		11	239	0	0	0	1	0	11	239				
SMAD3	4088	broad.mit.edu	37	15	67477138	67477138	+	Silent	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:67477138C>G	ENST00000327367.4	+	7	1255	c.945C>G	c.(943-945)gtC>gtG	p.V315V	SMAD3_ENST00000439724.3_Silent_p.V271V|SMAD3_ENST00000540846.2_Silent_p.V210V|SMAD3_ENST00000537194.2_Silent_p.V120V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	315	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Sufficient for interaction with XPO4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTATTTTTGTCCAGTCTCCCA	0.582																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(943-945)gtC>gtG		SMAD family member 3							146.0	124.0	131.0					15																	67477138		2201	4299	6500	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67477138C>G	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.945C>G	15.37:g.67477138C>G						SMAD3_ENST00000540846.2_Silent_p.V210V|SMAD3_ENST00000439724.3_Silent_p.V271V|SMAD3_ENST00000537194.2_Silent_p.V120V	p.V315V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	7	1255	+			315			MH2.|Sufficient for interaction with XPO4.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.945C>G	CCDS10222.1																																																																																				0.582	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		6	81	0	0	0	1	0	6	81				
PIK3CA	5290	broad.mit.edu	37	3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E81K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		8	Substitution - Missense(8)	p.E81K(8)	endometrium(4)|large_intestine(3)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(241-243)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107.0	101.0	103.0					3																	178916854		1820	4081	5901	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916854G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.241G>A	3.37:g.178916854G>A	ENSP00000263967:p.Glu81Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E81K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	398	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		81			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.241G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983574	0.93044	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89493	0.3758	9	.	.	.	-5.0909	19.2635	0.93977	0.0:0.0:1.0:0.0	.	81	P42336	PK3CA_HUMAN	K	81	ENSP00000263967:E81K;ENSP00000417479:E81K	.	E	+	1	0	PIK3CA	180399548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	GAA		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	135	0	0	0	1	0	8	135				
MAP1A	4130	broad.mit.edu	37	15	43815760	43815760	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:43815760G>A	ENST00000300231.5	+	4	2539	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E935K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E697K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	697					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGGAGCCGGGAGGCTTTTGG	0.547																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2803-2805)Gag>Aag		microtubule-associated protein 1A	Estramustine(DB01196)						28.0	28.0	28.0					15																	43815760		1859	4092	5951	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815760G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2089G>A	15.37:g.43815760G>A	ENSP00000300231:p.Glu697Lys					MAP1A_ENST00000300231.5_Missense_Mutation_p.E697K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E697K	p.E935K			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	2834	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	697					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2803G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092300	0.20471	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01745	4.66;4.67;4.67	5.26	5.26	0.73747	.	0.000000	0.32719	N	0.005732	T	0.08758	0.0217	M	0.73598	2.24	0.36840	D	0.887333	D	0.71674	0.998	D	0.78314	0.991	T	0.14615	-1.0466	10	0.31617	T	0.26	-10.1068	12.8049	0.57607	0.0845:0.0:0.9155:0.0	.	697	P78559	MAP1A_HUMAN	K	935;697;697	ENSP00000371462:E935K;ENSP00000382380:E697K;ENSP00000300231:E697K	ENSP00000300231:E697K	E	+	1	0	MAP1A	41603052	1.000000	0.71417	0.146000	0.22360	0.278000	0.26855	5.173000	0.65010	2.735000	0.93741	0.563000	0.77884	GAG		0.547	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	38	0	0	0	1	0	4	38				
TTN	7273	broad.mit.edu	37	2	179611824	179611824	+	Intron	SNP	C	C	T	rs397517814		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179611824C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Silent_p.E5101E			Q8WZ42	TITIN_HUMAN	titin						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)			GCTCTAGAGTCTCTCCTGGGG	0.502																																						ENST00000360870.5																			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.(15301-15303)gaG>gaA		titin							64.0	74.0	71.0					2																	179611824		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611824C>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.10361-5176G>A	2.37:g.179611824C>T						TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	p.E5101E	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15525	-			1209			Ig-like 31.		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.15303G>A																																																																																					0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	129	0	0	0	1	0	12	129				
PTER	9317	broad.mit.edu	37	10	16528557	16528557	+	Silent	SNP	C	C	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:16528557C>T	ENST00000378000.1	+	4	885	c.639C>T	c.(637-639)atC>atT	p.I213I	PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Silent_p.I213I|PTER_ENST00000535784.2_Silent_p.I213I|PTER_ENST00000423462.2_Silent_p.I213I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	213					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TTCAGATTATCCGAATATTGC	0.478																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(637-639)atC>atT		phosphotriesterase related							95.0	92.0	93.0					10																	16528557		2203	4300	6503	SO:0001819	synonymous_variant	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16528557C>T	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.639C>T	10.37:g.16528557C>T						PTER_ENST00000298942.3_Silent_p.I213I|PTER_ENST00000535784.2_Silent_p.I213I|PTER_ENST00000423462.2_Silent_p.I213I|PTER_ENST00000485788.1_3'UTR	p.I213I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			4	885	+			213					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	c.639C>T	CCDS7111.1																																																																																				0.478	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		6	98	0	0	0	1	0	6	98				
AFF3	3899	broad.mit.edu	37	2	100623823	100623823	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:100623823G>A	ENST00000409236.2	-	4	386	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	AFF3_ENST00000356421.2_Missense_Mutation_p.L117F|AFF3_ENST00000317233.4_Missense_Mutation_p.L92F|AFF3_ENST00000409579.1_Missense_Mutation_p.L117F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	92					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACTCCAACGAGATGACTCTGA	0.443																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(274-276)Ctc>Ttc		AF4/FMR2 family, member 3							91.0	97.0	95.0					2																	100623823		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623823G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.274C>T	2.37:g.100623823G>A	ENSP00000387207:p.Leu92Phe					AFF3_ENST00000409236.1_Missense_Mutation_p.L92F|AFF3_ENST00000409579.1_Missense_Mutation_p.L117F|AFF3_ENST00000356421.2_Missense_Mutation_p.L117F	p.L92F	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			5	509	-			92					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.274C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577300	0.86645	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492	T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.21	5.21	0.72293	.	0.103999	0.39544	N	0.001336	D	0.83862	0.5346	L	0.49350	1.555	0.49213	D	0.999762	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999	D	0.85215	0.1023	10	0.87932	D	0	.	19.1142	0.93331	0.0:0.0:1.0:0.0	.	246;246;92;92;117	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	F	92;117;117;92;92;246;117;92;92;92;92;92	ENSP00000317421:L92F;ENSP00000348793:L117F;ENSP00000386834:L117F;ENSP00000387207:L92F;ENSP00000406484:L92F;ENSP00000396582:L92F;ENSP00000399795:L92F;ENSP00000411383:L92F;ENSP00000395068:L92F	ENSP00000317421:L92F	L	-	1	0	AFF3	99990255	1.000000	0.71417	0.989000	0.46669	0.872000	0.50106	2.544000	0.45761	2.579000	0.87056	0.585000	0.79938	CTC		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	101	0	0	0	1	0	4	101				
LOXL2	4017	broad.mit.edu	37	8	23160816	23160816	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:23160816C>G	ENST00000389131.3	-	11	2344	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	659	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTGTGTCCTCCAAGCAGAAG	0.597																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1975-1977)Gag>Cag		lysyl oxidase-like 2							130.0	109.0	116.0					8																	23160816		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23160816C>G	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1975G>C	8.37:g.23160816C>G	ENSP00000373783:p.Glu659Gln						p.E659Q	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	11	2344	-		Prostate(55;0.0453)|Breast(100;0.143)	659			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1975G>C	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059556	0.93846	.	.	ENSG00000134013	ENST00000389131	T	0.41065	1.01	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	M	0.93375	3.41	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.81782	-0.0775	10	0.87932	D	0	.	17.6259	0.88093	0.0:1.0:0.0:0.0	.	659;659	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	Q	659	ENSP00000373783:E659Q	ENSP00000373783:E659Q	E	-	1	0	LOXL2	23216761	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.704000	0.84595	2.515000	0.84797	0.462000	0.41574	GAG		0.597	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			4	68	0	0	0	1	0	4	68				
KIAA0907	22889	broad.mit.edu	37	1	155885709	155885710	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:155885709_155885710insT	ENST00000368321.3	-	13	1622_1623	c.1599_1600insA	c.(1597-1602)acagagfs	p.E534fs	KIAA0907_ENST00000368320.3_Frame_Shift_Ins_p.E534fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	534							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCATCGGACTCTGTTTTTATTC	0.426																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1597-1602)acagtcfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155885709_155885710insT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1600dupA	1.37:g.155885710_155885710dupT	ENSP00000357304:p.Glu534fs					KIAA0907_ENST00000368321.3_Frame_Shift_Ins_p.V534fs	p.V534fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		13	1624_1625	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		534					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Ins	INS	ENST00000368321.3	37	c.1599_1600insA	CCDS30885.1																																																																																				0.426	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		56	428						56	428	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	5						3	5	---	---	---	---
STRADB	55437	broad.mit.edu	37	2	202343234	202343234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:202343234delG	ENST00000194530.3	+	10	1345	c.980delG	c.(979-981)agtfs	p.S327fs	STRADB_ENST00000392249.2_Frame_Shift_Del_p.S327fs	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ACAGTAAATAGTGACCGATTA	0.423																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(979-981)atfs		STE20-related kinase adaptor beta							67.0	63.0	64.0					2																	202343234		2203	4298	6501	SO:0001589	frameshift_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202343234delG	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.980delG	2.37:g.202343234delG	ENSP00000194530:p.Ser327fs					STRADB_ENST00000392249.2_Frame_Shift_Del_p.S327fs	p.S327fs	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			10	1345	+			327			Protein kinase.		Q5BKY7|Q9P1L0	Frame_Shift_Del	DEL	ENST00000194530.3	37	c.980delG	CCDS2348.1																																																																																				0.423	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		10	77						10	77	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			352962							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	4						3	4	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	3	3						3	3	---	---	---	---
LOC101928823	101928823	broad.mit.edu	37	11	112332121	112332121	+	lincRNA	DEL	T	T	-	rs545871933	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378																																						ENST00000528496.1																			0																																																			101928823							g.chr11:112332121delT																													11.37:g.112332121delT														0	231	+									RNA	DEL	ENST00000528496.1	37																																																																																						0.378	RP11-65M17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000393672.1			2	4						2	4	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	6						3	6	---	---	---	---
LRRC63	220416	broad.mit.edu	37	13	46844505	46844505	+	Splice_Site	DEL	C	C	-			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:46844505delC	ENST00000446175.1	+	10	1932	c.1587delC	c.(1585-1587)ctc>ct	p.L529fs	LRRC63_ENST00000595396.1_Intron	NM_001282460.1	NP_001269389.1	Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	528										lung(1)|ovary(1)	2						TTGCACCTCTCTGTAAGATTT	0.428																																						ENST00000446175.1																			0				lung(1)|ovary(1)	2						c.e10+1		leucine rich repeat containing 63																																				SO:0001630	splice_region_variant	220416							g.chr13:46844505delC		CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000446175.1:c.1588+1C>-	13.37:g.46844505delC						LRRC63_ENST00000595396.1_Intron	p.L529_splice							10	1932	+								Q5TBN0	Splice_Site	DEL	ENST00000446175.1	37	c.1588_splice																																																																																					0.428	LRRC63-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001718341	Frame_Shift_Del	8	163						8	163	---	---	---	---
SNAI3-AS1	197187	broad.mit.edu	37	16	88734767	88734769	+	RNA	DEL	CCC	CCC	-	rs369986701		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:88734767_88734769delCCC	ENST00000563475.1	+	0	21				SNAI3-AS1_ENST00000563261.1_RNA|SNAI3-AS1_ENST00000565633.1_RNA|SNAI3-AS1_ENST00000569786.1_RNA	NR_024402.1				SNAI3 antisense RNA 1																		ctcctgccctccccccatctttt	0.571																																						ENST00000563475.1																			0																																																			197187							g.chr16:88734767_88734769delCCC			16q24.3	2012-11-06			ENSG00000260630	ENSG00000260630		"""Long non-coding RNAs"""	28327	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_024399		Approved	MGC23284	uc010chy.3		OTTHUMG00000173242		16.37:g.88734770_88734772delCCC						SNAI3-AS1_ENST00000563261.1_RNA|SNAI3-AS1_ENST00000565633.1_RNA|SNAI3-AS1_ENST00000569786.1_RNA		NR_024402.1						0	21	+									RNA	DEL	ENST00000563475.1	37																																																																																						0.571	SNAI3-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000422580.1			2	4						2	4	---	---	---	---
