#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
NOP9	161424	broad.mit.edu	37	14	24769365	24769365	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr14:24769365C>T	ENST00000267425.3	+	1	298	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Silent_p.L69L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	69							poly(A) RNA binding (GO:0044822)										CCGCCGGGCGCTGTCAGCATT	0.617																																						ENST00000267425.3																			0											c.(205-207)Ctg>Ttg		NOP9 nucleolar protein							50.0	59.0	56.0					14																	24769365		2180	4274	6454	SO:0001819	synonymous_variant	161424							g.chr14:24769365C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.205C>T	14.37:g.24769365C>T						NOP9_ENST00000396802.3_Silent_p.L69L	p.L69L	NM_174913.1	NP_777573.1					1	298	+								A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.205C>T	CCDS9624.1																																																																																				0.617	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			42	87	0	0	0	1	0	42	87				
PTPRN	5798	broad.mit.edu	37	2	220162005	220162005	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:220162005C>T	ENST00000295718.2	-	14	2278	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	PTPRN_ENST00000409251.3_Missense_Mutation_p.E651K|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.E590K	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	680					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCGGCTCCTCGCACCAGGAC	0.652																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2038-2040)Gag>Aag		protein tyrosine phosphatase, receptor type, N							52.0	49.0	50.0					2																	220162005		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162005C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2038G>A	2.37:g.220162005C>T	ENSP00000295718:p.Glu680Lys					PTPRN_ENST00000423636.2_Missense_Mutation_p.E590K|PTPRN_ENST00000409251.3_Missense_Mutation_p.E651K	p.E680K	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	2278	-		Renal(207;0.0474)	680					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.2038G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723666	0.89298	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.14266	2.52;2.52;2.52	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.41236	0.1150	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.986;0.995	T	0.47623	-0.9103	10	0.62326	D	0.03	.	16.5377	0.84377	0.0:1.0:0.0:0.0	.	651;680	Q6NSL1;Q16849	.;PTPRN_HUMAN	K	651;680;651;590	ENSP00000386638:E651K;ENSP00000295718:E680K;ENSP00000444244:E590K	ENSP00000295718:E680K	E	-	1	0	PTPRN	219870249	1.000000	0.71417	0.992000	0.48379	0.820000	0.46376	7.115000	0.77110	2.216000	0.71823	0.561000	0.74099	GAG		0.652	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			25	20	0	0	0	1	0	25	20				
MYCBP2	23077	broad.mit.edu	37	13	77853046	77853046	+	Splice_Site	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:77853046T>C	ENST00000544440.2	-	4	498	c.481A>G	c.(481-483)Att>Gtt	p.I161V	MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000407578.2_Splice_Site_p.I199V|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTCAATAATCTATTTAAAA	0.358																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e4-1		MYC binding protein 2, E3 ubiquitin protein ligase							29.0	32.0	31.0					13																	77853046		2203	4299	6502	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77853046T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.481-1A>G	13.37:g.77853046T>C						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.I161_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.I161_splice	p.I199_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	4	861	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	161						Splice_Site	SNP	ENST00000544440.2	37	c.594_splice		.	.	.	.	.	.	.	.	.	.	T	13.92	2.382043	0.42207	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.53;1.52;1.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	N	0.21617	0.685	0.58432	D	0.999999	P	0.35745	0.518	P	0.47827	0.558	T	0.11470	-1.0586	10	0.32370	T	0.25	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	161	O75592	MYCB2_HUMAN	V	161;199;161	ENSP00000349892:I161V;ENSP00000384288:I199V;ENSP00000444596:I161V	ENSP00000349892:I161V	I	-	1	0	MYCBP2	76751047	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	ATT		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Missense_Mutation	10	25	0	0	0	1	0	10	25				
ZNF236	7776	broad.mit.edu	37	18	74620423	74620423	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr18:74620423A>G	ENST00000253159.8	+	14	2637	c.2439A>G	c.(2437-2439)gcA>gcG	p.A813A	ZNF236_ENST00000320610.9_Silent_p.A815A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	813					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)		AGGTGGTCGCAGCGAACCCCG	0.632																																						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.(2437-2439)gcA>gcG		zinc finger protein 236							50.0	58.0	55.0					18																	74620423		2105	4211	6316	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620423A>G	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.2439A>G	18.37:g.74620423A>G						ZNF236_ENST00000320610.9_Silent_p.A815A	p.A813A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2637	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	813					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.2439A>G	CCDS42447.1																																																																																				0.632	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			40	39	0	0	0	1	0	40	39				
RAD52	5893	broad.mit.edu	37	12	1025570	1025570	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:1025570G>A	ENST00000358495.3	-	9	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000536177.1_Missense_Mutation_p.P286L|RAD52_ENST00000539046.1_Missense_Mutation_p.R192W|RAD52_ENST00000430095.2_Missense_Mutation_p.R269W	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	269	Mediates interaction with RPA2.				DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			atccgctcccggaactgctgc	0.677								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(805-807)Cgg>Tgg	Homologous recombination	RAD52 homolog (S. cerevisiae)							16.0	21.0	19.0					12																	1025570		2148	4266	6414	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1025570G>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.805C>T	12.37:g.1025570G>A	ENSP00000351284:p.Arg269Trp					RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.R192W|RAD52_ENST00000430095.2_Missense_Mutation_p.R269W|RAD52_ENST00000536177.1_Missense_Mutation_p.P286L	p.R269W	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		9	943	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		269					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.805C>T	CCDS8507.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.875350|2.875350	0.51695|0.51695	.|.	.|.	ENSG00000002016|ENSG00000002016	ENST00000536177|ENST00000358495;ENST00000430095;ENST00000539046	T|T;T;T	0.46063|0.44482	0.88|1.33;1.33;0.92	4.97|4.97	4.08|4.08	0.47627|0.47627	.|.	.|0.239981	.|0.40818	.|N	.|0.001003	T|T	0.37705|0.37705	0.1013|0.1013	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	B|B	0.31640|0.30114	0.333|0.269	B|B	0.22880|0.22152	0.042|0.038	T|T	0.31806|0.31806	-0.9930|-0.9930	9|10	0.87932|0.48119	D|T	0|0.1	-20.9833|-20.9833	10.9711|10.9711	0.47441|0.47441	0.0876:0.0:0.9124:0.0|0.0876:0.0:0.9124:0.0	.|.	286|269	F5GX32|P43351	.|RAD52_HUMAN	L|W	286|269;269;192	ENSP00000440486:P286L|ENSP00000351284:R269W;ENSP00000387901:R269W;ENSP00000445245:R192W	ENSP00000440486:P286L|ENSP00000351284:R269W	P|R	-|-	2|1	0|2	RAD52|RAD52	895831|895831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.810000|4.810000	0.62598|0.62598	1.469000|1.469000	0.48083|0.48083	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.677	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		3	21	0	0	0	1	0	3	21				
AP5Z1	9907	broad.mit.edu	37	7	4824568	4824568	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:4824568C>G	ENST00000348624.4	+	7	914	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	274					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGCTCCACTCTGTCGGTGAT	0.677																																						ENST00000348624.4																			0											c.(820-822)Ctg>Gtg		adaptor-related protein complex 5, zeta 1 subunit							15.0	18.0	17.0					7																	4824568		2006	4155	6161	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824568C>G	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.820C>G	7.37:g.4824568C>G	ENSP00000297562:p.Leu274Val					AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	p.L274V	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			7	914	+			274					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.820C>G	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081094	0.00371	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.40476	1.03;1.03	4.73	1.41	0.22369	.	0.646924	0.14615	N	0.308783	T	0.16428	0.0395	N	0.04686	-0.185	0.19945	N	0.999943	B	0.09022	0.002	B	0.09377	0.004	T	0.29822	-0.9999	10	0.05525	T	0.97	.	7.8031	0.29187	0.364:0.4192:0.2169:0.0	.	274	O43299	K0415_HUMAN	V	274	ENSP00000297562:L274V;ENSP00000384980:L274V	ENSP00000297562:L274V	L	+	1	2	KIAA0415	4791094	0.198000	0.23374	0.189000	0.23252	0.050000	0.14768	0.688000	0.25422	0.388000	0.25054	0.561000	0.74099	CTG		0.677	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			5	13	0	0	0	1	0	5	13				
CACNG7	59284	broad.mit.edu	37	19	54444869	54444869	+	Splice_Site	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:54444869G>A	ENST00000391767.1	+	5	782	c.570G>A	c.(568-570)gaG>gaA	p.E190E	CACNG7_ENST00000222212.2_Splice_Site_p.E190E|CACNG7_ENST00000391766.1_Silent_p.E190E			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TACTCAAAGAGGTGACGTCCG	0.552																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e5+1		calcium channel, voltage-dependent, gamma subunit 7							127.0	115.0	119.0					19																	54444869		2203	4300	6503	SO:0001630	splice_region_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444869G>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.570+1G>A	19.37:g.54444869G>A						CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190_splice	p.E190_splice			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	5	782	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		190					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Splice_Site	SNP	ENST00000391767.1	37	c.570_splice	CCDS12868.1																																																																																				0.552	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		Silent	4	77	0	0	0	1	0	4	77				
RNF213	57674	broad.mit.edu	37	17	78320681	78320681	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:78320681C>T	ENST00000582970.1	+	29	8689	c.8546C>T	c.(8545-8547)gCg>gTg	p.A2849V	RNF213_ENST00000508628.2_Missense_Mutation_p.A2898V|RNF213_ENST00000336301.6_Missense_Mutation_p.A922V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2849					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)			GTGGGGCTGGCGGAAGACTCA	0.602																																						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.(8545-8547)gCg>gTg		ring finger protein 213							57.0	52.0	53.0					17																	78320681		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320681C>T	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.8546C>T	17.37:g.78320681C>T	ENSP00000464087:p.Ala2849Val					RNF213_ENST00000336301.6_Missense_Mutation_p.A922V|RNF213_ENST00000508628.2_Missense_Mutation_p.A2898V	p.A2849V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8689	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8546C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978282	0.53720	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.32988	1.43	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.55081	0.1898	L	0.58583	1.82	0.49389	D	0.999785	D	0.89917	1.0	D	0.77557	0.99	T	0.51702	-0.8672	10	0.59425	D	0.04	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	922	Q63HN8	RN213_HUMAN	V	2849;2898;922	ENSP00000338218:A922V	ENSP00000338218:A922V	A	+	2	0	RNF213	75935276	1.000000	0.71417	0.923000	0.36655	0.708000	0.40852	7.699000	0.84547	2.751000	0.94390	0.563000	0.77884	GCG		0.602	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		11	35	0	0	0	1	0	11	35				
FAM196A	642938	broad.mit.edu	37	10	128973673	128973673	+	Silent	SNP	C	C	T	rs527749367		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr10:128973673C>T	ENST00000522781.1	-	4	1542	c.987G>A	c.(985-987)ccG>ccA	p.P329P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCCAGCCCCGGCGGGGTGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17434	0.0		0.0	False		,,,				2504	0.001					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(985-987)ccG>ccA		family with sequence similarity 196, member A							82.0	89.0	87.0					10																	128973673		2203	4300	6503	SO:0001819	synonymous_variant	642938							g.chr10:128973673C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.987G>A	10.37:g.128973673C>T						FAM196A_ENST00000424811.2_Silent_p.P329P|DOCK1_ENST00000280333.6_Intron	p.P329P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1542	-			329					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.987G>A	CCDS31312.1																																																																																				0.632	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		55	67	0	0	0	1	0	55	67				
ZEB2	9839	broad.mit.edu	37	2	145156431	145156431	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:145156431A>G	ENST00000558170.2	-	8	3507	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L	ZEB2_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	775					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGGTCCAATTTTTCAACT	0.403																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2323-2325)Ttg>Ctg		zinc finger E-box binding homeobox 2							160.0	170.0	167.0					2																	145156431		2203	4299	6502	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156431A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2323T>C	2.37:g.145156431A>G						ZEB2_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000409487.3_Silent_p.L775L	p.L775L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3507	-			775					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.2323T>C	CCDS2186.1																																																																																				0.403	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		46	154	0	0	0	1	0	46	154				
CRYGA	1418	broad.mit.edu	37	2	209027941	209027941	+	Missense_Mutation	SNP	C	C	T	rs139353014	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209027941C>T	ENST00000304502.4	-	2	258	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	80	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGGAATTATACGGCAGGATTG	0.498													C|||	11	0.00219649	0.0	0.0014	5008	,	,		17676	0.0		0.005	False		,,,				2504	0.0051					ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(238-240)cGt>cAt		crystallin, gamma A		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	69.0	73.0	72.0		239	-1.3	0.0	2	dbSNP_134	72	25,8575	17.3+/-56.4	1,23,4276	yes	missense	CRYGA	NM_014617.3	29	1,25,6477	TT,TC,CC		0.2907,0.0454,0.2076	benign	80/175	209027941	27,12979	2203	4300	6503	SO:0001583	missense	1418							g.chr2:209027941C>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.239G>A	2.37:g.209027941C>T	ENSP00000302105:p.Arg80His						p.R80H	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	258	-								Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.239G>A	CCDS33367.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	13.16	2.155217	0.38021	4.54E-4	0.002907	ENSG00000168582	ENST00000304502	D	0.82984	-1.67	4.64	-1.3	0.09259	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.171461	0.50627	N	0.000117	D	0.84383	0.5460	H	0.96996	3.92	0.42466	D	0.992809	P	0.47302	0.893	B	0.36504	0.226	T	0.82936	-0.0210	10	0.54805	T	0.06	.	9.5546	0.39330	0.0:0.5511:0.0:0.4489	.	80	P11844	CRGA_HUMAN	H	80	ENSP00000302105:R80H	ENSP00000302105:R80H	R	-	2	0	CRYGA	208736186	0.218000	0.23608	0.023000	0.16930	0.070000	0.16714	0.859000	0.27858	-0.361000	0.08125	-0.345000	0.07892	CGT		0.498	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		32	27	0	0	0	1	0	32	27				
KIF13A	63971	broad.mit.edu	37	6	17828567	17828567	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:17828567T>C	ENST00000259711.6	-	14	1541	c.1436A>G	c.(1435-1437)gAt>gGt	p.D479G	KIF13A_ENST00000378814.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	479	FHA.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGCTGGATATCTTGAGAGGT	0.403																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1435-1437)gAt>gGt		kinesin family member 13A							70.0	65.0	67.0					6																	17828567		1895	4115	6010	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17828567T>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1436A>G	6.37:g.17828567T>C	ENSP00000259711:p.Asp479Gly					KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	p.D479G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		14	1435	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	479			FHA.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1436A>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979922	0.92982	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	6.04	6.04	0.98038	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.972;0.971;0.997;0.998	D	0.96129	0.9091	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	450;479;479;479;479	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	G	479	ENSP00000368091:D479G;ENSP00000259711:D479G;ENSP00000368103:D479G;ENSP00000368120:D479G;ENSP00000368093:D479G	ENSP00000259711:D479G	D	-	2	0	KIF13A	17936546	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	GAT		0.403	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			10	9	0	0	0	1	0	10	9				
PADI3	51702	broad.mit.edu	37	1	17599873	17599873	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:17599873G>C	ENST00000375460.3	+	10	1126	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	362					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCCGCACAAGACCCTCCCGG	0.602																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1084-1086)aaG>aaC		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						59.0	59.0	59.0					1																	17599873		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17599873G>C	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1086G>C	1.37:g.17599873G>C	ENSP00000364609:p.Lys362Asn						p.K362N	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	10	1126	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	362					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1086G>C	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312378	0.60414	.	.	ENSG00000142619	ENST00000375460	T	0.32988	1.43	5.31	3.45	0.39498	Protein-arginine deiminase, C-terminal (1);	0.062085	0.64402	D	0.000004	T	0.47637	0.1456	M	0.89785	3.06	0.37217	D	0.905057	P	0.48589	0.912	P	0.49192	0.602	T	0.59279	-0.7484	10	0.66056	D	0.02	-39.0138	9.0676	0.36473	0.2398:0.0:0.7602:0.0	.	362	Q9ULW8	PADI3_HUMAN	N	362	ENSP00000364609:K362N	ENSP00000364609:K362N	K	+	3	2	PADI3	17472460	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	0.541000	0.23207	0.624000	0.30286	0.511000	0.50034	AAG		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			8	25	0	0	0	1	0	8	25				
TRO	7216	broad.mit.edu	37	X	54957661	54957661	+	3'UTR	SNP	C	C	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chrX:54957661C>G	ENST00000173898.7	+	0	4444				TRO_ENST00000375022.4_Missense_Mutation_p.P671A|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.P274A|TRO_ENST00000319167.8_Missense_Mutation_p.P671A|TRO_ENST00000375041.2_3'UTR	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin						embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTTACAGATACCGCTAATAAA	0.413																																						ENST00000319167.8																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2011-2013)Ccg>Gcg		trophinin							185.0	158.0	167.0					X																	54957661		1940	4113	6053	SO:0001624	3_prime_UTR_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957661C>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.*36C>G	X.37:g.54957661C>G						TRO_ENST00000399736.1_Missense_Mutation_p.P274A|TRO_ENST00000375041.2_3'UTR|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.P671A|TRO_ENST00000173898.7_3'UTR	p.P671A	NM_016157.2	NP_057241.2	Q12816	TROP_HUMAN			13	2123	+			0					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2011C>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.321413	0.01320	.	.	ENSG00000067445	ENST00000319167;ENST00000375022;ENST00000399736	T;T;T	0.04194	3.93;3.93;3.68	2.9	0.922	0.19408	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.007;0.022	B;B	0.19666	0.018;0.026	T	0.47724	-0.9095	9	0.30078	T	0.28	.	6.6275	0.22839	0.5137:0.4863:0.0:0.0	.	274;671	B1AKF1;Q96SX2	.;.	A	671;671;274	ENSP00000318278:P671A;ENSP00000364162:P671A;ENSP00000382641:P274A	ENSP00000318278:P671A	P	+	1	0	TRO	54974386	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.065000	0.11617	0.113000	0.18004	0.600000	0.82982	CCG		0.413	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		16	9	0	0	0	1	0	16	9				
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(202-204)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							80.0	61.0	67.0					8																	134488066		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488066G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.202C>T	8.37:g.134488066G>A	ENSP00000318445:p.Arg68Cys					ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C	p.R68C			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1229	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		68					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.202C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259953	0.23051	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.55	3.52	0.40303	.	1.119980	0.06488	N	0.734078	T	0.15565	0.0375	N	0.08118	0	0.23325	N	0.997901	P	0.44659	0.84	B	0.42522	0.39	T	0.36866	-0.9730	10	0.54805	T	0.06	-16.4776	12.5723	0.56344	0.0:0.1221:0.7442:0.1337	.	68	Q11201	SIA4A_HUMAN	C	68	ENSP00000318445:R68C;ENSP00000414073:R68C;ENSP00000428540:R68C;ENSP00000430515:R68C	ENSP00000318445:R68C	R	-	1	0	ST3GAL1	134557248	0.833000	0.29383	0.058000	0.19502	0.082000	0.17680	1.527000	0.35975	1.320000	0.45209	0.561000	0.74099	CGC		0.612	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		18	85	0	0	0	1	0	18	85				
PSG8	440533	broad.mit.edu	37	19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	rs142689447		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43268388G>A	ENST00000306511.4	-	2	207	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.T37M|PSG8_ENST00000401467.2_Missense_Mutation_p.T37M	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	37	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463													.|||	1	0.000199681	0.0	0.0	5008	,	,		21250	0.0		0.001	False		,,,				2504	0.0					ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(109-111)aCg>aTg		pregnancy specific beta-1-glycoprotein 8		G	MET/THR,,MET/THR	0,4406		0,0,2203	173.0	170.0	171.0		110,,110	1.4	0.0	19	dbSNP_134	171	8,8590	6.4+/-24.3	0,8,4291	no	missense,intron,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	81,,81	0,8,6494	AA,AG,GG		0.093,0.0,0.0615	benign,,benign	37/420,,37/427	43268388	8,12996	2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43268388G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.110C>T	19.37:g.43268388G>A	ENSP00000305005:p.Thr37Met					PSG8_ENST00000306511.4_Missense_Mutation_p.T37M|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T37M	p.T37M	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	206	-		Prostate(69;0.00899)	37			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.110C>T	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	5.019	0.189287	0.09547	0.0	9.3E-4	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.68331	-0.32;-0.32;-0.32	1.35	1.35	0.21983	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72415	0.3457	M	0.77712	2.385	0.09310	N	1	P;B;P;B;B	0.44690	0.841;0.062;0.538;0.174;0.208	P;B;B;B;B	0.52646	0.705;0.063;0.204;0.066;0.109	T	0.60662	-0.7219	9	0.49607	T	0.09	.	6.1568	0.20342	0.0:0.0:1.0:0.0	.	37;37;37;37;37	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	M	37	ENSP00000385869:T37M;ENSP00000386090:T37M;ENSP00000305005:T37M	ENSP00000305005:T37M	T	-	2	0	PSG8	47960228	0.007000	0.16637	0.011000	0.14972	0.031000	0.12232	2.204000	0.42761	1.063000	0.40649	0.184000	0.17185	ACG		0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			38	97	0	0	0	1	0	38	97				
NADK	65220	broad.mit.edu	37	1	1688005	1688005	+	Missense_Mutation	SNP	G	G	A	rs147892956		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:1688005G>A	ENST00000341426.5	-	5	657	c.436C>T	c.(436-438)Cct>Tct	p.P146S	NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000344463.4_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.P291S	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	146					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGATGGCAGGGTCTTCTAGC	0.527																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(871-873)Cct>Tct		NAD kinase		G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	145.0	122.0	130.0		436,871,340,436	5.8	1.0	1	dbSNP_134	130	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	NADK	NM_001198993.1,NM_001198994.1,NM_001198995.1,NM_023018.4	74,74,74,74	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	146/447,291/592,114/415,146/447	1688005	3,13003	2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688005G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.436C>T	1.37:g.1688005G>A	ENSP00000341679:p.Pro146Ser					NADK_ENST00000342348.5_Missense_Mutation_p.P114S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000341991.3_Missense_Mutation_p.P146S	p.P291S			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	7	1092	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	146					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.871C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463212	0.63513	0.0	3.49E-4	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.40476	1.06;1.06;1.03;1.03;1.06;1.06	5.77	5.77	0.91146	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.052436	0.85682	D	0.000000	T	0.51907	0.1702	M	0.68317	2.08	0.80722	D	1	B;B;P;P	0.42123	0.371;0.417;0.771;0.624	B;P;P;B	0.48334	0.142;0.475;0.574;0.3	T	0.38023	-0.9680	10	0.15499	T	0.54	-14.0529	18.5425	0.91033	0.0:0.0:1.0:0.0	.	114;291;291;146	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	S	146;146;291;291;114;114	ENSP00000341679:P146S;ENSP00000344340:P146S;ENSP00000367890:P291S;ENSP00000340925:P291S;ENSP00000339727:P114S;ENSP00000383713:P114S	ENSP00000341679:P146S	P	-	1	0	NADK	1677865	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.235000	0.72332	2.733000	0.93635	0.561000	0.74099	CCT		0.527	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		3	31	0	0	0	1	0	3	31				
MYO15A	51168	broad.mit.edu	37	17	18023051	18023051	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:18023051G>A	ENST00000205890.5	+	2	1275	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	313					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E313K(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACGATTACGAACCCCCATA	0.612																																						ENST00000205890.5																			1	Substitution - Missense(1)	p.E313K(1)	breast(1)	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(937-939)Gaa>Aaa		myosin XVA							47.0	54.0	52.0					17																	18023051		1916	4112	6028	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023051G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.937G>A	17.37:g.18023051G>A	ENSP00000205890:p.Glu313Lys						p.E313K	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1275	+	all_neural(463;0.228)		313			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.937G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.006030	0.35415	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	5.82	4.83	0.62350	.	.	.	.	.	T	0.74558	0.3732	N	0.24115	0.695	0.58432	D	0.999998	P	0.50710	0.938	B	0.25405	0.06	T	0.77672	-0.2500	9	0.48119	T	0.1	.	16.3486	0.83191	0.0:0.1324:0.8676:0.0	.	313	Q9UKN7	MYO15_HUMAN	K	313	ENSP00000205890:E313K	ENSP00000205890:E313K	E	+	1	0	MYO15A	17963776	0.162000	0.22906	0.845000	0.33349	0.015000	0.08874	2.752000	0.47516	1.427000	0.47276	0.561000	0.74099	GAA		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		24	47	0	0	0	1	0	24	47				
MAGEB4	4115	broad.mit.edu	37	X	30260826	30260826	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chrX:30260826G>T	ENST00000378982.2	+	1	770	c.574G>T	c.(574-576)Gcc>Tcc	p.A192S	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	192	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGAGCAGTGCCTGGACCCT	0.532																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(574-576)Gcc>Tcc		melanoma antigen family B, 4							85.0	68.0	74.0					X																	30260826		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260826G>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.574G>T	X.37:g.30260826G>T	ENSP00000368266:p.Ala192Ser						p.A192S	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	770	+			192			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.574G>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	3.937	-0.015064	0.07681	.	.	ENSG00000120289	ENST00000378982	T	0.04454	3.62	2.96	-1.45	0.08828	.	0.669254	0.12499	U	0.463521	T	0.00906	0.0030	N	0.00265	-1.74	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.44360	-0.9333	10	0.12430	T	0.62	.	1.0307	0.01537	0.1369:0.1904:0.2821:0.3906	.	192	O15481	MAGB4_HUMAN	S	192	ENSP00000368266:A192S	ENSP00000368266:A192S	A	+	1	0	MAGEB4	30170747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.220000	0.09215	-0.482000	0.06782	-1.453000	0.01033	GCC		0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		4	9	1	0	0.150653	1	0.150653	4	9				
LRP2	4036	broad.mit.edu	37	2	170068629	170068629	+	Silent	SNP	G	G	A	rs111909155		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:170068629G>A	ENST00000263816.3	-	37	6414	c.6129C>T	c.(6127-6129)tgC>tgT	p.C2043C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2043	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGCACAGGCGCAGGAAAACA	0.448																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6127-6129)tgC>tgT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G		0,4406		0,0,2203	109.0	118.0	115.0		6129	-9.0	0.7	2	dbSNP_132	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP2	NM_004525.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2043/4656	170068629	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170068629G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6129C>T	2.37:g.170068629G>A							p.C2043C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6414	-			2043			EGF-like 8.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.6129C>T	CCDS2232.1																																																																																				0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		21	91	0	0	0	1	0	21	91				
ROBO3	64221	broad.mit.edu	37	11	124742974	124742974	+	Missense_Mutation	SNP	G	G	A	rs529624379		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr11:124742974G>A	ENST00000397801.1	+	9	1717	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	ROBO3_ENST00000538940.1_Missense_Mutation_p.A487T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	509	Ig-like C2-type 5.				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)		CCTGTACATCGCCAATGTGCA	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20369	0.0		0.0	False		,,,				2504	0.0					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.(1525-1527)Gcc>Acc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							68.0	73.0	72.0					11																	124742974		2077	4207	6284	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742974G>A	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.1525G>A	11.37:g.124742974G>A	ENSP00000380903:p.Ala509Thr					ROBO3_ENST00000538940.1_Missense_Mutation_p.A487T	p.A509T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	9	1717	+	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)	509			Ig-like C2-type 5.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1525G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.288368	0.01387	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.66815	-0.23;-0.23	4.39	0.075	0.14397	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.389904	0.18716	N	0.133155	T	0.41166	0.1147	N	0.14661	0.345	0.19775	N	0.999951	B	0.16396	0.017	B	0.06405	0.002	T	0.17258	-1.0375	10	0.20046	T	0.44	.	6.9632	0.24610	0.6565:0.0:0.3435:0.0	.	509	Q96MS0	ROBO3_HUMAN	T	509;487	ENSP00000380903:A509T;ENSP00000441797:A487T	ENSP00000380903:A509T	A	+	1	0	ROBO3	124248184	0.015000	0.18098	0.034000	0.17996	0.222000	0.24845	1.127000	0.31357	0.142000	0.18901	-0.379000	0.06801	GCC		0.562	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	27	0	0	0	1	0	6	27				
ZNF716	441234	broad.mit.edu	37	7	57528490	57528490	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:57528490A>T	ENST00000420713.1	+	4	435	c.323A>T	c.(322-324)cAa>cTa	p.Q108L		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	108					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)|kidney(1)|lung(20)|ovary(2)	24						GATTCACTCCAAAAAGTGATA	0.383																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(322-324)cAa>cTa		zinc finger protein 716							111.0	108.0	109.0					7																	57528490		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528490A>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.323A>T	7.37:g.57528490A>T	ENSP00000394248:p.Gln108Leu						p.Q108L	NM_001159279.1	NP_001152751.1					4	435	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.323A>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.620417	0.28801	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05717	3.4	0.195	0.195	0.15151	.	.	.	.	.	T	0.14830	0.0358	M	0.65320	2	0.22489	N	0.999053	D	0.60160	0.987	D	0.67725	0.953	T	0.15093	-1.0449	9	0.59425	D	0.04	.	2.6102	0.04889	0.5591:0.0:0.4409:0.0	.	96	A6NP11	ZN716_HUMAN	L	108;96	ENSP00000394248:Q108L	ENSP00000387687:Q96L	Q	+	2	0	ZNF716	57532432	0.003000	0.15002	0.083000	0.20561	0.083000	0.17756	1.687000	0.37680	0.257000	0.21650	0.254000	0.18369	CAA		0.383	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	28	0	0	0	1	0	8	28				
HTT	3064	broad.mit.edu	37	4	3234976	3234976	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr4:3234976C>T	ENST00000355072.5	+	61	8497	c.8352C>T	c.(8350-8352)caC>caT	p.H2784H	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2784					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGCCCTGCACGGCGTCCTCT	0.637																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(8350-8352)caC>caT		huntingtin							91.0	103.0	99.0					4																	3234976		2121	4238	6359	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3234976C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8352C>T	4.37:g.3234976C>T						HTT_ENST00000513806.1_Intron	p.H2784H	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	61	8497	+		all_epithelial(65;0.18)	2784					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.8352C>T	CCDS43206.1																																																																																				0.637	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		28	95	0	0	0	1	0	28	95				
CENPJ	55835	broad.mit.edu	37	13	25480341	25480341	+	Missense_Mutation	SNP	C	C	T	rs141856342	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:25480341C>T	ENST00000381884.4	-	7	2020	c.1835G>A	c.(1834-1836)cGg>cAg	p.R612Q	CENPJ_ENST00000545981.1_Missense_Mutation_p.R612Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	612					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGAAGACATCCGGTGACCTTT	0.428																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1834-1836)cGg>cAg		centromere protein J		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	88.0	88.0		1835	3.4	1.0	13	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CENPJ	NM_018451.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	612/1339	25480341	2,13004	2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480341C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1835G>A	13.37:g.25480341C>T	ENSP00000371308:p.Arg612Gln					CENPJ_ENST00000545981.1_Missense_Mutation_p.R612Q	p.R612Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	2020	-		Lung SC(185;0.0225)|Breast(139;0.0602)	612					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1835G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568688	0.45798	2.27E-4	1.16E-4	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.72051	-0.62;-0.1	6.02	3.37	0.38596	.	0.125660	0.49916	N	0.000136	T	0.56077	0.1961	L	0.50333	1.59	0.33022	D	0.529028	P	0.43519	0.809	B	0.27608	0.081	T	0.66874	-0.5813	10	0.42905	T	0.14	.	11.1934	0.48698	0.0:0.7935:0.0:0.2065	.	612	Q9HC77	CENPJ_HUMAN	Q	612	ENSP00000371308:R612Q;ENSP00000441090:R612Q	ENSP00000371308:R612Q	R	-	2	0	CENPJ	24378341	0.992000	0.36948	0.978000	0.43139	0.785000	0.44390	1.713000	0.37951	0.885000	0.36088	-0.142000	0.14014	CGG		0.428	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		9	31	0	0	0	1	0	9	31				
ACACA	31	broad.mit.edu	37	17	35479506	35479506	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:35479506T>C	ENST00000394406.2	-	49	6164	c.5974A>G	c.(5974-5976)Aca>Gca	p.T1992A	ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A|ACACA_ENST00000353139.5_Missense_Mutation_p.T2029A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1992	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTTCTACTGTTCGGGTTTCT	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6085-6087)Aca>Gca		acetyl-CoA carboxylase alpha	Biotin(DB00121)						197.0	178.0	184.0					17																	35479506		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35479506T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5974A>G	17.37:g.35479506T>C	ENSP00000377928:p.Thr1992Ala					ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A	p.T2029A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			49	6566	-		Breast(25;0.00157)|Ovarian(249;0.15)	1992			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6085A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252112	0.59212	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.96	5.96	0.96718	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.054275	0.85682	D	0.000000	T	0.37652	0.1011	M	0.72479	2.2	0.80722	D	1	B;B;B;B;B	0.17038	0.012;0.02;0.002;0.013;0.01	B;B;B;B;B	0.19946	0.021;0.019;0.006;0.027;0.016	T	0.11767	-1.0574	10	0.42905	T	0.14	-11.8385	16.4444	0.83913	0.0:0.0:0.0:1.0	.	30;691;2029;1992;1934	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	A	2029;1934;1992;2016;1914;691;118	ENSP00000344789:T2029A;ENSP00000353898:T1934A;ENSP00000377928:T1992A;ENSP00000335323:T1914A;ENSP00000354565:T118A	ENSP00000335323:T1914A	T	-	1	0	ACACA	32553619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.547000	0.45786	2.280000	0.76307	0.519000	0.50382	ACA		0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	73	0	0	0	1	0	20	73				
NNT	23530	broad.mit.edu	37	5	43624173	43624173	+	Missense_Mutation	SNP	G	G	A	rs548915718		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr5:43624173G>A	ENST00000264663.5	+	6	948	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NNT_ENST00000512996.2_Missense_Mutation_p.A112T|NNT_ENST00000344920.4_Missense_Mutation_p.A243T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	243					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCTTGCTTCTGCAGGCGCAGC	0.413																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(727-729)Gca>Aca		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						342.0	314.0	324.0					5																	43624173		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43624173G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.727G>A	5.37:g.43624173G>A	ENSP00000264663:p.Ala243Thr					NNT_ENST00000344920.4_Missense_Mutation_p.A243T|NNT_ENST00000512996.2_Missense_Mutation_p.A112T	p.A243T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			6	948	+	Lung NSC(6;2.58e-06)		243					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.727G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667540	0.96745	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91011	-2.77;-2.77;-2.77	5.89	5.89	0.94794	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 (1);Alanine dehydrogenase/PNT, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92466	0.7608	M	0.72624	2.21	0.80722	D	1	P	0.38863	0.65	B	0.43701	0.428	D	0.92487	0.5997	10	0.87932	D	0	-14.2183	20.2566	0.98424	0.0:0.0:1.0:0.0	.	243	Q13423	NNTM_HUMAN	T	243;243;112	ENSP00000264663:A243T;ENSP00000343873:A243T;ENSP00000426343:A112T	ENSP00000264663:A243T	A	+	1	0	NNT	43659930	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.334000	0.96470	2.793000	0.96121	0.561000	0.74099	GCA		0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		89	141	0	0	0	1	0	89	141				
STAU2	27067	broad.mit.edu	37	8	74601015	74601015	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:74601015T>C	ENST00000521419.1	-	4	340	c.34A>G	c.(34-36)Aca>Gca	p.T12A	STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000521451.1_Intron|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000355780.5_Missense_Mutation_p.T18A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	50	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATTCCCATGTCTGCTCACCA	0.418																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(52-54)Aca>Gca		staufen double-stranded RNA binding protein 2							152.0	144.0	147.0					8																	74601015		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74601015T>C	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.34A>G	8.37:g.74601015T>C	ENSP00000428681:p.Thr12Ala					RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000522962.1_5'UTR	p.T18A	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		4	270	-	Breast(64;0.0138)		50			DRBM 1.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521419.1	37	c.52A>G		.	.	.	.	.	.	.	.	.	.	T	11.51	1.661445	0.29515	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000521447;ENST00000524104;ENST00000521419;ENST00000521736	T;T;T;T;T;T;T;T	0.77229	1.55;-1.08;1.56;-1.08;1.56;1.56;1.56;0.97	5.73	3.21	0.36854	.	0.219182	0.48286	N	0.000200	T	0.62708	0.2450	L	0.35542	1.07	0.41995	D	0.990866	B;B;B;B;B;B;B	0.28850	0.144;0.144;0.004;0.225;0.001;0.004;0.034	B;B;B;B;B;B;B	0.29440	0.035;0.035;0.009;0.078;0.004;0.003;0.102	T	0.53795	-0.8388	10	0.15066	T	0.55	-17.456	8.3042	0.32032	0.0:0.0691:0.1336:0.7974	.	30;18;12;18;50;18;50	E7EPX0;A8K276;E5RGT3;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	A	18;50;18;50;30;18;12;18;18;12;18	ENSP00000428456:T18A;ENSP00000428756:T50A;ENSP00000348026:T18A;ENSP00000430907:T50A;ENSP00000429973:T30A;ENSP00000427977:T18A;ENSP00000431111:T12A;ENSP00000428829:T18A	ENSP00000348026:T18A	T	-	1	0	STAU2	74763569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.381000	0.34362	1.120000	0.41904	0.524000	0.50904	ACA		0.418	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379012.2	NM_001164380		52	174	0	0	0	1	0	52	174				
AHI1	54806	broad.mit.edu	37	6	135787209	135787209	+	Silent	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:135787209G>A	ENST00000367800.4	-	5	708	c.492C>T	c.(490-492)ggC>ggT	p.G164G	AHI1_ENST00000327035.6_Silent_p.G164G|AHI1_ENST00000457866.2_Silent_p.G164G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	164	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GATGATCAACGCCTGGCTGTG	0.443																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(490-492)ggC>ggT		Abelson helper integration site 1							246.0	218.0	227.0					6																	135787209		1942	4135	6077	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787209G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.492C>T	6.37:g.135787209G>A						AHI1_ENST00000327035.6_Silent_p.G164G|AHI1_ENST00000457866.2_Silent_p.G164G	p.G164G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	708	-	Breast(56;0.239)|Colorectal(23;0.24)		164					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.492C>T	CCDS47483.1																																																																																				0.443	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		19	43	0	0	0	1	0	19	43				
TP53BP1	7158	broad.mit.edu	37	15	43701249	43701249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr15:43701249G>A	ENST00000263801.3	-	26	5683	c.5431C>T	c.(5431-5433)Cga>Tga	p.R1811*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.R1814*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.R1766*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.R1816*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1811	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCCGGGTTCGACAATGCTGA	0.498								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5431-5433)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							144.0	108.0	120.0					15																	43701249		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43701249G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5431C>T	15.37:g.43701249G>A	ENSP00000263801:p.Arg1811*					TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.R1766*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.R1816*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.R1814*	p.R1811*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	26	5683	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1811			BRCT 1.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.5431C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599130	0.66332	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8155	19.425	0.94737	0.0:0.0:1.0:0.0	.	.	.	.	X	1811;1816;1766;1814	.	ENSP00000263801:R1811X	R	-	1	2	TP53BP1	41488541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.120000	0.94369	2.664000	0.90586	0.655000	0.94253	CGA		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	40	0	0	0	1	0	7	40				
BMP10	27302	broad.mit.edu	37	2	69092997	69092997	+	Silent	SNP	G	G	A	rs557332981		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:69092997G>A	ENST00000295379.1	-	2	1199	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	347					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATAGGCTTCGTATCCAGGCG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19526	0.0		0.0	False		,,,				2504	0.001					ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(1039-1041)taC>taT		bone morphogenetic protein 10							116.0	110.0	112.0					2																	69092997		2203	4300	6503	SO:0001819	synonymous_variant	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69092997G>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1041C>T	2.37:g.69092997G>A							p.Y347Y	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1199	-			347					Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	c.1041C>T	CCDS1890.1																																																																																				0.517	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		21	48	0	0	0	1	0	21	48				
PCSK5	5125	broad.mit.edu	37	9	78790197	78790197	+	Intron	SNP	C	C	G	rs371197545		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr9:78790197C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.I684M|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatcgaatcgaatcgaatc	0.358																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2050-2052)atC>atG		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790197C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+152C>G	9.37:g.78790197C>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.I684M			Q92824	PCSK5_HUMAN			14	2564	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2052C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.128|0.128	-1.116928|-1.116928	0.01799|0.01799	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.68181|.	-0.31|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24198|0.24198	0.0586|0.0586	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.44690|.	0.841|.	P|.	0.44561|.	0.453|.	T|T	0.26883|0.26883	-1.0090|-1.0090	7|4	0.72032|0.28530	D|T	0.01|0.3	.|.	4.6597|4.6597	0.12636|0.12636	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	684|.	B1AMG5|.	.|.	M|G	684|683	ENSP00000365958:I684M|.	ENSP00000365958:I684M|ENSP00000379415:R683G	I|R	+|+	3|1	3|2	PCSK5|PCSK5	77980017|77980017	0.000000|0.000000	0.05858|0.05858	0.050000|0.050000	0.19076|0.19076	0.052000|0.052000	0.14988|0.14988	-3.000000|-3.000000	0.00653|0.00653	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	ATC|CGA		0.358	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	2	0	0	0	1	0	3	2				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	41	0	0	0	1	0	3	41				
PRKCZ	5590	broad.mit.edu	37	1	2082320	2082320	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:2082320G>A	ENST00000400921.2	+	6	913	c.230G>A	c.(229-231)cGc>cAc	p.R77H	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77H	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	260	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R260H(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GTCATCGGGCGCGGGAGCTAC	0.512																																						ENST00000400921.2																			1	Substitution - Missense(1)	p.R260H(1)	central_nervous_system(1)	breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(229-231)cGc>cAc		protein kinase C, zeta							79.0	77.0	78.0					1																	2082320		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2082320G>A	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.230G>A	1.37:g.2082320G>A	ENSP00000383712:p.Arg77His					PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77H|PRKCZ_ENST00000479263.1_3'UTR	p.R77H	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	6	913	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	260			OPR.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.230G>A	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747721	0.89663	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000497183	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;1.88;-0.24;-0.24;-0.24;-0.24	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.82908	-0.0224	10	0.87932	D	0	.	17.0179	0.86424	0.0:0.0:1.0:0.0	.	156;84;260	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	H	260;77;156;77;77;73;77;77;73	ENSP00000367830:R260H;ENSP00000383712:R77H;ENSP00000426412:R156H;ENSP00000424228:R77H;ENSP00000383711:R77H;ENSP00000424763:R73H;ENSP00000421219:R77H;ENSP00000422764:R73H	ENSP00000367830:R260H	R	+	2	0	PRKCZ	2072180	1.000000	0.71417	0.987000	0.45799	0.679000	0.39708	8.977000	0.93446	2.493000	0.84123	0.591000	0.81541	CGC		0.512	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		3	33	0	0	0	1	0	3	33				
SLC44A5	204962	broad.mit.edu	37	1	75805314	75805314	+	Splice_Site	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:75805314A>G	ENST00000370855.5	-	4	167	c.54T>C	c.(52-54)ggT>ggC	p.G18G	SLC44A5_ENST00000370859.3_Splice_Site_p.G18G|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	18					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTTGGATCACCTGCATTTA	0.323																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e4-1		solute carrier family 44, member 5							176.0	192.0	187.0					1																	75805314		2203	4300	6503	SO:0001630	splice_region_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75805314A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.53-1T>C	1.37:g.75805314A>G						SLC44A5_ENST00000370859.3_Splice_Site_p.G18_splice|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	p.G18_splice	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			4	167	-			18					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	37	c.52_splice	CCDS667.1																																																																																				0.323	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Silent	42	156	0	0	0	1	0	42	156				
LRRTM1	347730	broad.mit.edu	37	2	80530543	80530543	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:80530543C>T	ENST00000295057.3	-	2	1058	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGGCATGGGCCGGAAGGTGG	0.622										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(400-402)cgG>cgA		leucine rich repeat transmembrane neuronal 1							170.0	172.0	171.0					2																	80530543		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530543C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.402G>A	2.37:g.80530543C>T		HNSCC(69;0.2)				CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.R134R	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1058	-			134					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.402G>A	CCDS1966.1																																																																																				0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		40	58	0	0	0	1	0	40	58				
C2orf80	389073	broad.mit.edu	37	2	209036736	209036736	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209036736C>A	ENST00000341287.4	-	7	625	c.430G>T	c.(430-432)Gca>Tca	p.A144S	C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	144										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TATGCTGCTGCTTTGGGTGCT	0.463																																						ENST00000341287.4																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(430-432)Gca>Tca		chromosome 2 open reading frame 80							239.0	242.0	241.0					2																	209036736		1954	4150	6104	SO:0001583	missense	389073							g.chr2:209036736C>A	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.430G>T	2.37:g.209036736C>A	ENSP00000343171:p.Ala144Ser					C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S	p.A144S	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN			7	625	-			144					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.430G>T	CCDS42809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596327|3.596327	0.66332|0.66332	.|.	.|.	ENSG00000188674|ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000423952|ENST00000428015	T;T;T;T|.	0.49432|.	0.88;1.38;1.27;0.78|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.53938|.	D|.	0.000054|.	T|T	0.57651|0.57651	0.2068|0.2068	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.50499|0.50499	-0.8821|-0.8821	10|5	0.87932|.	D|.	0|.	-18.1825|-18.1825	16.2046|16.2046	0.82114|0.82114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144|.	Q0P641|.	CB080_HUMAN|.	S|I	69;144;125;57|95	ENSP00000389385:A69S;ENSP00000343171:A144S;ENSP00000405393:A125S;ENSP00000413016:A57S|.	ENSP00000343171:A144S|.	A|S	-|-	1|2	0|0	C2orf80|C2orf80	208744981|208744981	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.243000|0.243000	0.25628|0.25628	4.558000|4.558000	0.60789|0.60789	2.885000|2.885000	0.99019|0.99019	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.463	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		55	154	1	0	1.67886e-27	1	1.77762e-27	55	154				
CERS5	91012	broad.mit.edu	37	12	50536935	50536935	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:50536935A>G	ENST00000317551.6	-	3	480	c.356T>C	c.(355-357)gTc>gCc	p.V119A	CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	119					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GATTTTTCGGACATTCCAATC	0.493																																						ENST00000317551.6																			0											c.(355-357)gTc>gCc		ceramide synthase 5							172.0	177.0	175.0					12																	50536935		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536935A>G		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.356T>C	12.37:g.50536935A>G	ENSP00000325485:p.Val119Ala					CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	p.V119A	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			3	480	-			119					B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.356T>C	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.96|11.96	1.794095|1.794095	0.31777|0.31777	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340	.|D;D;D	.|0.96041	.|-3.89;-3.89;-3.89	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.126562	.|0.52532	.|D	.|0.000065	D|D	0.92522|0.92522	0.7625|0.7625	M|M	0.65498|0.65498	2.005|2.005	0.46203|0.46203	D|D	0.998927|0.998927	.|B;B;B	.|0.18741	.|0.012;0.002;0.03	.|B;B;B	.|0.22880	.|0.042;0.014;0.03	D|D	0.86605|0.86605	0.1869|0.1869	6|10	0.38643|0.10377	T|T	0.18|0.69	-8.2376|-8.2376	8.9459|8.9459	0.35758|0.35758	0.9161:0.0:0.0839:0.0|0.9161:0.0:0.0839:0.0	.|.	.|61;119;38	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	P|A	54|38;119;61	.|ENSP00000447556:V38A;ENSP00000325485:V119A;ENSP00000389050:V61A	ENSP00000407896:S84P|ENSP00000325485:V119A	S|V	-|-	1|2	0|0	CERS5|CERS5	48823202|48823202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.352000|7.352000	0.79404|0.79404	2.033000|2.033000	0.60031|0.60031	0.528000|0.528000	0.53228|0.53228	TCC|GTC		0.493	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		83	136	0	0	0	1	0	83	136				
GNAI2	2771	broad.mit.edu	37	3	50289913	50289913	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:50289913G>C	ENST00000313601.6	+	3	630	c.246G>C	c.(244-246)atG>atC	p.M82I	GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	82					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		AGTCCATCATGGCCATTGTCA	0.597																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(244-246)atG>atC		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							75.0	65.0	68.0					3																	50289913		2203	4300	6503	SO:0001583	missense	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50289913G>C	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.246G>C	3.37:g.50289913G>C	ENSP00000312999:p.Met82Ile					GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I|GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR	p.M82I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	3	630	+			82					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	c.246G>C	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652533	0.29336	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87809	-2.3;-2.3;-1.73;-2.3;-2.3;-2.3	5.1	5.1	0.69264	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	N	0.05441	-0.05	0.52099	D	0.999947	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.002;0.004;0.002	T	0.68096	-0.5499	10	0.02654	T	1	.	16.8172	0.85737	0.0:0.0:1.0:0.0	.	45;82;66;66	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	I	66;82;1;82;30;45;66	ENSP00000406871:M66I;ENSP00000312999:M82I;ENSP00000444360:M1I;ENSP00000395736:M30I;ENSP00000406369:M45I;ENSP00000266027:M66I	ENSP00000266027:M66I	M	+	3	0	GNAI2	50264917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.640000	0.74319	2.757000	0.94681	0.655000	0.94253	ATG		0.597	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		19	32	0	0	0	1	0	19	32				
NUP205	23165	broad.mit.edu	37	7	135282771	135282771	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:135282771G>A	ENST00000285968.6	+	15	2116	c.2090G>A	c.(2089-2091)cGg>cAg	p.R697Q	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	697					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAGAATCCCGGTGTGAAGAA	0.403																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2089-2091)cGg>cAg		nucleoporin 205kDa							145.0	158.0	154.0					7																	135282771		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282771G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2090G>A	7.37:g.135282771G>A	ENSP00000285968:p.Arg697Gln					NUP205_ENST00000440390.2_3'UTR	p.R697Q	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			15	2116	+			697					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2090G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070255	0.93950	.	.	ENSG00000155561	ENST00000285968	T	0.33216	1.42	5.73	5.73	0.89815	.	0.043737	0.85682	D	0.000000	T	0.46795	0.1411	L	0.55103	1.725	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	T	0.13308	-1.0514	10	0.13470	T	0.59	-22.7226	19.8824	0.96903	0.0:0.0:1.0:0.0	.	697	Q92621	NU205_HUMAN	Q	697	ENSP00000285968:R697Q	ENSP00000285968:R697Q	R	+	2	0	NUP205	134933311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.819000	0.99357	2.696000	0.92011	0.591000	0.81541	CGG		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			38	159	0	0	0	1	0	38	159				
PRKAR1A	5573	broad.mit.edu	37	17	66519943	66519943	+	Silent	SNP	T	T	C	rs3730371		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:66519943T>C	ENST00000589228.1	+	4	554	c.426T>C	c.(424-426)gaT>gaC	p.D142D	PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	142					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	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)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CACATCTTGATGATAATGAGA	0.368			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(424-426)gaT>gaC		protein kinase, cAMP-dependent, regulatory, type I, alpha							100.0	95.0	97.0					17																	66519943		2203	4300	6503	SO:0001819	synonymous_variant	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66519943T>C		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.426T>C	17.37:g.66519943T>C						PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D	p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			4	554	+	Breast(10;1.64e-13)		142					K7ER48|Q567S7	Silent	SNP	ENST00000589228.1	37	c.426T>C	CCDS11678.1																																																																																				0.368	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			12	21	0	0	0	1	0	12	21				
PSG7	5676	broad.mit.edu	37	19	43439764	43439764	+	RNA	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43439764G>A	ENST00000406070.2	-	0	318				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGGTAGAGGTCCCTGATTT	0.423																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							188.0	193.0	191.0					19																	43439764		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439764G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439764G>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	318	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.423	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		48	152	0	0	0	1	0	48	152				
MSTO1	55154	broad.mit.edu	37	1	155579904	155579905	+	5'Flank	DEL	TC	TC	-			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:155579904_155579905delTC	ENST00000245564.2	+	0	0				MSTO1_ENST00000368341.4_5'Flank|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000452804.2_5'Flank|MSTO1_ENST00000538143.1_5'Flank	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator						mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GCGCATCGTTTCTCCAATGGGA	0.634																																						ENST00000456382.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:155579904_155579905delTC	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014		1.37:g.155579906_155579907delTC	Exception_encountered													0	103	-								Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	RNA	DEL	ENST00000245564.2	37		CCDS1114.1																																																																																				0.634	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		9	7						9	7	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	134275094	134275094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:134275094delC	ENST00000409261.1	-	3	377	c.4delG	c.(4-6)gagfs	p.E2fs	NCKAP5_ENST00000409213.1_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000405974.3_Frame_Shift_Del_p.E2fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	2										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTTTCCCTCCATGGATGAA	0.378																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4-6)agfs		NCK-associated protein 5							74.0	73.0	73.0					2																	134275094		1819	4063	5882	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:134275094delC	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4delG	2.37:g.134275094delC	ENSP00000387128:p.Glu2fs					NCKAP5_ENST00000405974.3_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000409213.1_Frame_Shift_Del_p.E2fs	p.E2fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			3	377	-			2					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.4delG	CCDS46418.1																																																																																				0.378	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		2	4						2	4	---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189838441	189838441	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:189838441delG	ENST00000319332.5	-	1	277	c.80delC	c.(79-81)ccgfs	p.P27fs	LEPREL1-AS1_ENST00000412203.1_RNA|LEPREL1_ENST00000427335.2_Intron	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	27					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGCTGTCCGGGGGGCCGCC	0.746																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(79-81)cgfs		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						2.0	2.0	2.0					3																	189838441		1261	2868	4129	SO:0001589	frameshift_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189838441delG		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.80delC	3.37:g.189838441delG	ENSP00000316881:p.Pro27fs					LEPREL1_ENST00000427335.2_Intron	p.P27fs	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	1	277	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		27					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Frame_Shift_Del	DEL	ENST00000319332.5	37	c.80delC	CCDS3294.1																																																																																				0.746	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		2	4						2	4	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	8						4	8	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767137	41767137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:41767137delT	ENST00000379483.3	-	1	1565	c.1257delA	c.(1255-1257)gcafs	p.A419fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	419										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCAAGCGATCTGCAAGTTGCT	0.498																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1255-1257)gcfs		kelch repeat and BTB (POZ) domain containing 7							115.0	106.0	109.0					13																	41767137		2203	4297	6500	SO:0001589	frameshift_variant	84078						protein binding	g.chr13:41767137delT	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1257delA	13.37:g.41767137delT	ENSP00000368797:p.Ala419fs						p.A419fs	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1565	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	419					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Frame_Shift_Del	DEL	ENST00000379483.3	37	c.1257delA	CCDS9377.1																																																																																				0.498	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		20	83						20	83	---	---	---	---
