#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
FUBP3	8939	broad.mit.edu	37	9	133491801	133491801	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:133491801A>T	ENST00000319725.9	+	7	539	c.464A>T	c.(463-465)cAt>cTt	p.H155L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	155					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCTGGCTTTCATAATGACATA	0.488																																						ENST00000319725.9											0			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(463-465)cAt>cTt	far upstream element (FUSE) binding protein 3						75.0	74.0	74.0					9																	133491801		2000	4165	6165	SO:0001583	missense	8939			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133491801A>T	U69127	U69127	CCDS43893.1	CCDS43893.1	9q34.11	2008-02-05			2008-02-05			ENSG00000107164	ENSG00000107164	ENSG00000107164	ENSG00000107164				4005	4005	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603536	603536		FBP3		FBP3		8940189	8940189	Standard	Standard	NM_003934	NM_003934		Approved		uc004bzr.1	uc004bzr.1	Q96I24	Q96I24	OTTHUMG00000020809	OTTHUMG00000020809	ENST00000319725.9:c.464A>T	9.37:g.133491801A>T	ENSP00000318177:p.His155Leu			p.H155L	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	7	539	+			155		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.464A>T	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.048870	0.55110	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.39056	1.1	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.66939	2.045	0.58432	D	0.999996	P;D;D	0.56968	0.564;0.978;0.978	B;P;P	0.54856	0.391;0.762;0.762	T	0.51965	-0.8638	10	0.27785	T	0.31	-15.0649	14.4551	0.67411	1.0:0.0:0.0:0.0	.	95;155;155	Q96I24-2;A3KFK8;Q96I24	.;.;FUBP3_HUMAN	L	142;155;95	ENSP00000318177:H155L	ENSP00000318177:H155L	H	+	2	0	0	FUBP3	132481622	132481622	1.000000	0.71417	0.910000	0.35882	0.985000	0.73830	8.887000	0.92456	2.020000	0.59435	0.459000	0.35465	CAT		0.488	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1		31.611443	-28	-28	36	36			11	32.970147	32.970147	26	0.297297	0	0	0	1	0	11	26	0.297297
PDE4DIP	9659	broad.mit.edu	37	1	144873916	144873916	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:144873916G>T	ENST00000369354.3	-	31	5230	c.5041C>A	c.(5041-5043)Ccc>Acc	p.P1681T	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1637T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P1817T|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1681T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1681					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTATTCTGGGGAGTTGGCAAG	0.517			T	PDGFRB	MPD																																	ENST00000369359.4		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(5449-5451)Ccc>Acc	phosphodiesterase 4D interacting protein						371.0	375.0	373.0					1																	144873916		2203	4299	6502	SO:0001583	missense	9659			cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144873916G>T	AB007923, AB007946	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	ENSG00000178104	ENSG00000178104				15580	15580	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""myomegalin"""	"""myomegalin"""	608117	608117	"""cardiomyopathy associated 2"""	CMYA2	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	9455484, 11134006	Standard	Standard	NM_022359	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	uc021ouh.1	Q5VU43	Q5VU43	OTTHUMG00000013846	OTTHUMG00000013846	ENST00000369354.3:c.5041C>A	1.37:g.144873916G>T	ENSP00000358360:p.Pro1681Thr		PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1681T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1637T|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1681T	p.P1817T			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	34	5487	-			1681		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5449C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371737	0.42003	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	T;T;T;T	0.01854	4.6;4.92;4.93;4.92	5.43	4.45	0.53987	5.43	4.45	0.53987	.	.	.	.	.	T	0.02193	0.0068	L	0.43152	1.355	0.80722	D	1	D;P	0.58620	0.983;0.78	P;B	0.54544	0.755;0.335	T	0.60910	-0.7169	9	0.31617	T	0.26	.	8.2279	0.31579	0.1078:0.0:0.8922:0.0	.	1637;1681	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	T	1637;1681;1681;1817	ENSP00000327209:P1637T;ENSP00000358360:P1681T;ENSP00000358363:P1681T;ENSP00000358366:P1817T	ENSP00000327209:P1637T	P	-	1	0	0	PDE4DIP	143585273	143585273	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.179000	0.50887	2.810000	0.96702	0.650000	0.86243	CCC		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		201.246368	-85	-85	290	290	NM_022359		84	212.621083	212.621083	205	0.290657	1	0	2.06477e-34	1	2.41873e-34	84	205	0.290657
PAPPA	5069	broad.mit.edu	37	9	118949960	118949960	+	Missense_Mutation	SNP	G	G	A	rs201429158		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:118949960G>A	ENST00000328252.3	+	2	1312	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	315	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAATGCCCACGGCTTTCTGCT	0.552																																						ENST00000328252.3											0			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(943-945)Ggc>Agc	pregnancy-associated plasma protein A, pappalysin 1						80.0	75.0	77.0					9																	118949960		2203	4300	6503	SO:0001583	missense	5069			cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949960G>A			CCDS6813.1	CCDS6813.1	9q33.1	2014-03-05			2014-03-05			ENSG00000182752	ENSG00000182752	ENSG00000182752	ENSG00000182752				8602	8602	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385	176385						7679961	7679961	Standard	Standard	NM_002581	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	uc004bjn.3	Q13219	Q13219	OTTHUMG00000021045	OTTHUMG00000021045	ENST00000328252.3:c.943G>A	9.37:g.118949960G>A	ENSP00000330658:p.Gly315Ser			p.G315S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1312	+			315	Metalloprotease.	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.943G>A	CCDS6813.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.084	-0.410122	0.04799	.	.	ENSG00000182752	ENST00000328252	T	0.01685	4.69	5.88	0.506	0.16961	5.88	0.506	0.16961	.	0.547831	0.22203	N	0.063216	T	0.01523	0.0049	L	0.38838	1.175	0.80722	D	1	B	0.21071	0.051	B	0.08055	0.003	T	0.52638	-0.8549	10	0.10636	T	0.68	-9.6888	9.5958	0.39573	0.3757:0.0:0.6243:0.0	.	315	Q13219	PAPP1_HUMAN	S	315	ENSP00000330658:G315S	ENSP00000330658:G315S	G	+	1	0	0	PAPPA	117989781	117989781	0.377000	0.25106	0.151000	0.22473	0.585000	0.36419	0.692000	0.25482	0.023000	0.15187	-0.126000	0.14955	GGC		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		54.705566	-12	-12	40	40	NM_002581		16	54.830576	54.830576	12	0.571429	0	0	0	1	0	16	12	0.571429
SLK	9748	broad.mit.edu	37	10	105758982	105758982	+	Missense_Mutation	SNP	A	A	G	rs148478778		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:105758982A>G	ENST00000369755.3	+	6	1238	c.693A>G	c.(691-693)atA>atG	p.I231M	SLK_ENST00000335753.4_Missense_Mutation_p.I231M	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGCTGAGATAGAACCACCTC	0.403																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3											0			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(691-693)atA>atG	STE20-like kinase	A	MET/ILE	0,4406		0,0,2203	80.0	77.0	78.0		693	4.5	1.0	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLK	NM_014720.2	10	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	231/1236	105758982	1,13005	2203	4300	6503	SO:0001583	missense	9748			apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105758982A>G			CCDS7553.1	CCDS7553.1	10q25.1	2010-06-25	2010-06-25		2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613	ENSG00000065613	ENSG00000065613				11088	11088	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""		"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	3526554	Standard	Standard	NM_014720	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	uc001kxo.1	Q9H2G2	Q9H2G2	OTTHUMG00000018999	OTTHUMG00000018999	ENST00000369755.3:c.693A>G	10.37:g.105758982A>G	ENSP00000358770:p.Ile231Met		SLK_ENST00000335753.4_Missense_Mutation_p.I231M	p.I231M	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	6	1238	+		Colorectal(252;0.178)	231	Protein kinase.	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.693A>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800842	0.50315	0.0	1.16E-4	ENSG00000065613	ENST00000335753;ENST00000369755	D;T	0.83992	-1.79;2.09	5.68	4.54	0.55810	5.68	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050956	0.85682	D	0.000000	T	0.66819	0.2828	N	0.11818	0.18	0.58432	D	0.999998	P;P	0.41313	0.7;0.745	B;B	0.36567	0.228;0.225	T	0.68507	-0.5390	10	0.31617	T	0.26	.	11.9191	0.52781	0.9305:0.0:0.0695:0.0	.	231;231	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	M	231	ENSP00000336824:I231M;ENSP00000358770:I231M	ENSP00000336824:I231M	I	+	3	3	3	SLK	105748972	105748972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.742000	0.38248	2.162000	0.67917	0.482000	0.46254	ATA		0.403	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		-8.935977	-18	-18	72	72	NM_014720		3	7.036105	7.036105	68	0.042254	0	0	0	1	0	3	68	0.042254
GTF3C3	9330	broad.mit.edu	37	2	197657738	197657738	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr2:197657738G>A	ENST00000263956.3	-	3	442	c.353C>T	c.(352-354)gCg>gTg	p.A118V	GTF3C3_ENST00000409364.3_Missense_Mutation_p.A118V|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	118					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACATCGCCCGCAGTGGGTTG	0.403																																						ENST00000263956.3											0			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(352-354)gCg>gTg	general transcription factor IIIC, polypeptide 3, 102kDa						56.0	56.0	56.0					2																	197657738		2203	4300	6503	SO:0001583	missense	9330				transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657738G>A	AF133123	AF133123	CCDS2316.1, CCDS56153.1	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041	ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	4666	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604888	604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""		"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	10373544	Standard	Standard	NM_001206774	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	uc002uts.3	Q9Y5Q9	Q9Y5Q9	OTTHUMG00000154633	OTTHUMG00000154633	ENST00000263956.3:c.353C>T	2.37:g.197657738G>A	ENSP00000263956:p.Ala118Val		GTF3C3_ENST00000409364.3_Missense_Mutation_p.A118V	p.A118V	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	442	-			118		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.353C>T	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621691	0.46736	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.46451	0.87;0.89	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.194547	0.44097	D	0.000498	T	0.31888	0.0811	N	0.19112	0.55	0.49915	D	0.999834	B;B	0.18741	0.03;0.007	B;B	0.18263	0.021;0.003	T	0.05257	-1.0896	10	0.29301	T	0.29	-15.8657	18.7444	0.91787	0.0:0.0:1.0:0.0	.	118;118	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	V	118	ENSP00000263956:A118V;ENSP00000386465:A118V	ENSP00000263956:A118V	A	-	2	0	0	GTF3C3	197365983	197365983	1.000000	0.71417	0.992000	0.48379	0.796000	0.44982	6.030000	0.70903	2.652000	0.90054	0.655000	0.94253	GCG		0.403	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		-9.628519	-19	-19	55	55			3	6.618612	6.618612	69	0.041667	0	0	0	1	0	3	69	0.041667
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5											0																	159.0	154.0	156.0					15																	20170029		2104	4233	6337			0						g.chr15:20170029C>T	L25542	L25542			15q11.1	2013-10-18	2008-08-22		2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403	ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	"""Immunoglobulins / IGH orphons"""	5569	5569	other	immunoglobulin gene	other	immunoglobulin gene					"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7	"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	7959766	Standard	Standard	NG_032069	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159					OTTHUMG00000171652	OTTHUMG00000171652		15.37:g.20170029C>T											0	242	-						RNA	SNP	ENST00000338912.5	37																																																																																											0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4		-33.084226	-75	-75	112	112			5	9.161709	9.161709	168	0.028902	0	0	0	1	0	5	168	0.028902
PAGR1	79447	broad.mit.edu	37	16	29830893	29830893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr16:29830893C>T	ENST00000320330.6	+	3	1145	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	MVP_ENST00000395353.1_5'Flank|PAGR1_ENST00000609618.1_Nonsense_Mutation_p.Q195*|MVP_ENST00000452209.2_5'Flank|AC009133.12_ENST00000569809.1_RNA|MVP_ENST00000357402.5_5'Flank|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	195						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											AGCCCGGAGCCAGAAACGGGA	0.577																																						ENST00000320330.6											0										c.(583-585)Cag>Tag	PAXIP1 associated glutamate-rich protein 1						147.0	162.0	157.0					16																	29830893		2197	4300	6497	SO:0001587	stop_gained	79447						g.chr16:29830893C>T	BC003640	BC003640	CCDS10655.1	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928	ENSG00000185928	ENSG00000185928				28707	28707	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	612033	"""chromosome 16 open reading frame 53"""	C16orf53	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	17500065, 19039327	Standard	Standard	NM_024516	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	uc002dug.4	Q9BTK6	Q9BTK6	OTTHUMG00000132117	OTTHUMG00000132117	ENST00000320330.6:c.583C>T	16.37:g.29830893C>T	ENSP00000326519:p.Gln195*		AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Nonsense_Mutation_p.Q195*	p.Q195*							3	1145	+					A2ICR6	Nonsense_Mutation	SNP	ENST00000320330.6	37	c.583C>T	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	C	40	8.375036	0.98784	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.306842	0.33419	N	0.004933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-21.6467	17.5892	0.87991	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000326519:Q195X	Q	+	1	0	0	C16orf53	29738394	29738394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.735000	0.47377	2.767000	0.95098	0.655000	0.94253	CAG		0.577	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1		144.266208	-97	-97	193	193	NM_024516		54	151.449216	151.449216	131	0.291892	0	0	0	1	0	54	131	0.291892
PCDHB7	56129	broad.mit.edu	37	5	140554081	140554081	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr5:140554081C>A	ENST00000231137.3	+	1	1839	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.726																																						ENST00000231137.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1663-1665)aaC>aaA							28.0	32.0	31.0					5																	140554081		2192	4283	6475	SO:0001583	missense	0			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554081C>A	AF152500	AF152500	CCDS4249.1	CCDS4249.1	5q31	2010-01-26			2010-01-26			ENSG00000113212	ENSG00000113212	ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8692	8692	other	protocadherin	other	protocadherin			606333	606333						10380929	10380929	Standard	Standard	NM_018940	NM_018940		Approved	PCDH-BETA7	uc003lit.3	uc003lit.3	Q9Y5E2	Q9Y5E2	OTTHUMG00000129608	OTTHUMG00000129608	ENST00000231137.3:c.1665C>A	5.37:g.140554081C>A	ENSP00000231137:p.Asn555Lys			p.N555K	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1839	+			555	Cadherin 5.	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1665C>A	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.05|17.05	3.291169|3.291169	0.59976|0.59976	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.01745|.	4.66|.	4.3|4.3	0.795|0.795	0.18643|0.18643	4.3|4.3	0.795|0.795	0.18643|0.18643	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.85579|0.85579	0.5729|0.5729	H|H	0.98833|0.98833	4.345|4.345	0.38258|0.38258	D|D	0.941809|0.941809	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	D|D	0.83921|0.83921	0.0301|0.0301	9|5	0.87932|.	D|.	0|.	.|.	5.9973|5.9973	0.19501|0.19501	0.0:0.3365:0.0:0.6635|0.0:0.3365:0.0:0.6635	.|.	555|.	Q9Y5E2|.	PCDB7_HUMAN|.	K|K	555|338	ENSP00000231137:N555K|.	ENSP00000231137:N555K|.	N|T	+|+	3|2	2|0	2|0	PCDHB7|PCDHB7	140534265|140534265	140534265|140534265	0.000000|0.000000	0.05858|0.05858	0.992000|0.992000	0.48379|0.48379	0.966000|0.966000	0.64601|0.64601	-2.009000|-2.009000	0.01455|0.01455	0.355000|0.355000	0.24131|0.24131	0.449000|0.449000	0.29647|0.29647	AAC|ACG		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		142.714814	-2	-2	64	64	NM_018940		44	143.731678	143.731678	26	0.628571	1	0	2.45108e-15	1	2.71606e-15	44	26	0.628571
PRLHR	2834	broad.mit.edu	37	10	120353694	120353694	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:120353694G>A	ENST00000369169.1	-	1	1062	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	PRLHR_ENST00000239032.2_Missense_Mutation_p.R355C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	355					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCTATCTTGCGGGGCCAAGCG	0.602																																						ENST00000239032.2											0			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(1063-1065)Cgc>Tgc	prolactin releasing hormone receptor						50.0	48.0	48.0					10																	120353694		2203	4300	6503	SO:0001583	missense	2834			female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353694G>A	AB048946	AB048946	CCDS7606.1	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	"""GPCR / Class A : RF amide peptide receptors"""	4464	4464	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600895	600895	"""G protein-coupled receptor 10"""	GPR10	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	8666380, 15885496	Standard	Standard	NM_004248	NM_004248		Approved	PrRPR	uc001ldp.1	uc001ldp.1	P49683	P49683	OTTHUMG00000019136	OTTHUMG00000019136	ENST00000369169.1:c.1063C>T	10.37:g.120353694G>A	ENSP00000358167:p.Arg355Cys		PRLHR_ENST00000369169.1_Missense_Mutation_p.R355C	p.R355C	NM_004248.2	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	1201	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	355		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.1063C>T	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934272	0.34096	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.37411	1.2;1.2	4.7	3.71	0.42584	4.7	3.71	0.42584	.	0.130594	0.47852	D	0.000220	T	0.46658	0.1404	L	0.53249	1.67	0.37443	D	0.914514	D	0.89917	1.0	P	0.60117	0.869	T	0.50056	-0.8872	10	0.45353	T	0.12	.	9.8449	0.41021	0.1757:0.0:0.8243:0.0	.	355	P49683	PRLHR_HUMAN	C	355	ENSP00000239032:R355C;ENSP00000358167:R355C	ENSP00000239032:R355C	R	-	1	0	0	PRLHR	120343684	120343684	0.407000	0.25352	0.905000	0.35620	0.015000	0.08874	2.045000	0.41250	2.445000	0.82738	0.561000	0.74099	CGC		0.602	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1		50.170072	6	6	39	39	NM_004248		17	50.430058	50.430058	24	0.414634	0	0	0	1	0	17	24	0.414634
GRIN2A	2903	broad.mit.edu	37	16	9943759	9943759	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr16:9943759C>A	ENST00000396573.2	-	6	1491	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.K394N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K237N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K394N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	394					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGGAGAAGGACTTGTACCTGG	0.582																																						ENST00000396573.2											0			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1180-1182)aaG>aaT	glutamate receptor, ionotropic, N-methyl D-aspartate 2A						134.0	109.0	118.0					16																	9943759		2197	4300	6497	SO:0001583	missense	0			response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943759C>A			CCDS10539.1, CCDS45407.1	CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			2012-08-29			ENSG00000183454	ENSG00000183454	ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	4585	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138253	138253		NMDAR2A		NMDAR2A		9480759	9480759	Standard	Standard	XM_005255267	XM_005255267		Approved	GluN2A	uc002czo.4	uc002czo.4	Q12879	Q12879	OTTHUMG00000129721	OTTHUMG00000129721	ENST00000396573.2:c.1182G>T	16.37:g.9943759C>A	ENSP00000379818:p.Lys394Asn		GRIN2A_ENST00000535259.1_Missense_Mutation_p.K237N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K394N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K394N	p.K394N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			6	1491	-			394		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1182G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.401	0.259122	0.10239	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.04194	3.68;3.68;3.68;3.68;3.68	5.22	0.552	0.17230	5.22	0.552	0.17230	.	0.208574	0.51477	D	0.000100	T	0.01222	0.0040	N	0.00801	-1.175	0.33622	D	0.604897	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.40887	-0.9539	9	.	.	.	.	4.5616	0.12163	0.0:0.3637:0.2566:0.3797	.	237;394;394	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	394;394;237;394;394	ENSP00000379818:K394N;ENSP00000385872:K394N;ENSP00000441572:K237N;ENSP00000332549:K394N;ENSP00000379820:K394N	.	K	-	3	2	2	GRIN2A	9851260	9851260	0.774000	0.28592	1.000000	0.80357	0.994000	0.84299	-0.104000	0.10923	0.595000	0.29777	0.655000	0.94253	AAG		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		-1.745160	-17	-17	50	50			4	8.321154	8.321154	50	0.074074	1	0	0.014758	1	0.0151269	4	50	0.074074
C1orf127	148345	broad.mit.edu	37	1	11014184	11014184	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:11014184C>T	ENST00000377008.4	-	9	936	c.490G>A	c.(490-492)Gga>Aga	p.G164R	C1orf127_ENST00000377004.4_Missense_Mutation_p.G331R			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	164										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGGGTTCCTCCGACTTCTTGG	0.572																																						ENST00000377004.4											0			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(991-993)Gga>Aga	chromosome 1 open reading frame 127						112.0	115.0	114.0					1																	11014184		2203	4300	6503	SO:0001583	missense	148345						g.chr1:11014184C>T	AK094437	AK094437	CCDS53267.1	CCDS53267.1	1p36.22	2008-02-05			2008-02-05			ENSG00000175262	ENSG00000175262	ENSG00000175262	ENSG00000175262				26730	26730	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										14702039	14702039	Standard	Standard	NM_001170754	NM_001170754		Approved	FLJ37118	uc010oao.2	uc010oao.2	Q8N9H9	Q8N9H9	OTTHUMG00000002032	OTTHUMG00000002032	ENST00000377008.4:c.490G>A	1.37:g.11014184C>T	ENSP00000366207:p.Gly164Arg		C1orf127_ENST00000377008.4_Missense_Mutation_p.G164R	p.G331R	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	10	990	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	182		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.991G>A		.	.	.	.	.	.	.	.	.	.	C	0.003	-2.548495	0.00140	.	.	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.20738	2.06;2.05	4.94	-5.3	0.02738	4.94	-5.3	0.02738	.	3.475080	0.00919	N	0.002564	T	0.07593	0.0191	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27673	-1.0067	10	0.06625	T	0.88	4.6333	5.1712	0.15110	0.0677:0.3202:0.1539:0.4583	.	182;182;164	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	R	331;164	ENSP00000366203:G331R;ENSP00000366207:G164R	ENSP00000366203:G331R	G	-	1	0	0	C1orf127	10936771	10936771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.396000	0.07278	-1.710000	0.01397	-3.386000	0.00040	GGA		0.572	C1orf127-202	KNOWN	basic	protein_coding	protein_coding			85.383499	-53	-53	74	74	NM_173507		28	86.439323	86.439323	47	0.373333	0	0	0	1	0	28	47	0.373333
LUZP1	7798	broad.mit.edu	37	1	23417948	23417948	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:23417948G>A	ENST00000302291.4	-	4	3608	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	LUZP1_ENST00000314174.5_Missense_Mutation_p.P936L|LUZP1_ENST00000418342.1_Missense_Mutation_p.P936L|LUZP1_ENST00000374623.3_Missense_Mutation_p.P936L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	936					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCGAGTTGGGGGGTCTTCTAA	0.502																																						ENST00000302291.4											0			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2806-2808)cCc>cTc	leucine zipper protein 1						109.0	111.0	111.0					1																	23417948		2203	4300	6503	SO:0001583	missense	7798				nucleus		g.chr1:23417948G>A	BC051733	BC051733	CCDS30628.1	CCDS30628.1	1p36	2008-02-05			2008-02-05			ENSG00000169641	ENSG00000169641	ENSG00000169641	ENSG00000169641				14985	14985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601422	601422						8812416	8812416	Standard	Standard	NM_033631	NM_033631		Approved	LUZP	uc010odv.1	uc010odv.1	Q86V48	Q86V48	OTTHUMG00000003227	OTTHUMG00000003227	ENST00000302291.4:c.2807C>T	1.37:g.23417948G>A	ENSP00000303758:p.Pro936Leu		LUZP1_ENST00000314174.5_Missense_Mutation_p.P936L|LUZP1_ENST00000374623.3_Missense_Mutation_p.P936L|LUZP1_ENST00000418342.1_Missense_Mutation_p.P936L	p.P936L			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3608	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	936		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2807C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475173	0.26511	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15372	2.63;2.63;2.63;2.43	4.55	3.62	0.41486	4.55	3.62	0.41486	.	0.766388	0.11531	N	0.554685	T	0.18718	0.0449	L	0.51422	1.61	0.39449	D	0.96737	B;B	0.26809	0.16;0.078	B;B	0.24701	0.054;0.055	T	0.04495	-1.0947	10	0.66056	D	0.02	.	11.4052	0.49894	0.0:0.0:0.819:0.181	.	936;936	Q86V48-2;Q86V48	.;LUZP1_HUMAN	L	936	ENSP00000393460:P936L;ENSP00000363752:P936L;ENSP00000303758:P936L;ENSP00000313705:P936L	ENSP00000303758:P936L	P	-	2	0	0	LUZP1	23290535	23290535	0.922000	0.31269	0.495000	0.27527	0.405000	0.30901	1.904000	0.39868	1.129000	0.42072	-0.515000	0.04445	CCC		0.502	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		-21.206348	-12	-12	146	146	NM_033631		7	13.626482	13.626482	150	0.044586	0	0	0	1	0	7	150	0.044586
SH3RF1	57630	broad.mit.edu	37	4	170037527	170037527	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr4:170037527G>A	ENST00000284637.9	-	10	2373	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	678					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CGGCCACTGGGCTCAGCCTCC	0.577																																						ENST00000284637.9											0			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(2032-2034)Ccc>Tcc	SH3 domain containing ring finger 1						72.0	62.0	65.0					4																	170037527		2203	4300	6503	SO:0001583	missense	57630				Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170037527G>A	BC033203	BC033203	CCDS34099.1	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	"""RING-type (C3HC4) zinc fingers"""	17650	17650	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""	"""plenty of SH3 domains"""			"""SH3 multiple domains 2"""	SH3MD2	"""SH3 multiple domains 2"""	SH3MD2		9482736	9482736	Standard	Standard	NM_020870	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	uc003isa.1	Q7Z6J0	Q7Z6J0	OTTHUMG00000161010	OTTHUMG00000161010	ENST00000284637.9:c.2032C>T	4.37:g.170037527G>A	ENSP00000284637:p.Pro678Ser		SH3RF1_ENST00000508685.1_5'UTR	p.P678S	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	10	2373	-		Prostate(90;0.00267)|Renal(120;0.0183)	678		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2032C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	1.489	-0.555200	0.03967	.	.	ENSG00000154447	ENST00000284637	T	0.12879	2.64	5.49	4.65	0.58169	5.49	4.65	0.58169	.	0.362204	0.32473	N	0.006050	T	0.09423	0.0232	L	0.40543	1.245	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.34601	-0.9822	10	0.12430	T	0.62	-23.7601	5.7545	0.18164	0.1601:0.0:0.6441:0.1958	.	678	Q7Z6J0	SH3R1_HUMAN	S	678	ENSP00000284637:P678S	ENSP00000284637:P678S	P	-	1	0	0	SH3RF1	170274102	170274102	0.019000	0.18553	0.324000	0.25361	0.003000	0.03518	0.664000	0.25068	1.320000	0.45209	-0.263000	0.10527	CCC		0.577	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		-1.831504	-27	-27	28	28	NM_020870		3	6.315695	6.315695	40	0.069767	0	0	0	1	0	3	40	0.069767
KIAA1324L	222223	broad.mit.edu	37	7	86542377	86542377	+	Silent	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:86542377G>A	ENST00000450689.2	-	14	2060	c.1875C>T	c.(1873-1875)caC>caT	p.H625H	KIAA1324L_ENST00000297222.6_Silent_p.H385H|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T579I|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Silent_p.H458H	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	625						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTCAATGTAGTGGCCTGGAG	0.552																																						ENST00000444627.1											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1735-1737)aCt>aTt	KIAA1324-like						161.0	134.0	143.0					7																	86542377		2203	4300	6503	SO:0001819	synonymous_variant	222223				integral to membrane		g.chr7:86542377G>A	AK055902	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			2008-09-18			ENSG00000164659	ENSG00000164659	ENSG00000164659	ENSG00000164659				21945	21945	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""EIG121-like"""	"""EIG121-like"""	614048	614048								Standard	Standard	NM_001142749	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	uc011kha.2	A8MWY0	A8MWY0	OTTHUMG00000153995	OTTHUMG00000153995	ENST00000450689.2:c.1875C>T	7.37:g.86542377G>A			KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Silent_p.H385H|KIAA1324L_ENST00000450689.2_Silent_p.H625H|KIAA1324L_ENST00000416314.1_Silent_p.H458H	p.T579I			A8MWY0	K132L_HUMAN			14	1853	-	Esophageal squamous(14;0.0058)		0		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.1736C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576656	0.45902	.	.	ENSG00000164659	ENST00000444627	T	0.16897	2.31	5.82	4.93	0.64822	5.82	4.93	0.64822	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00277	-1.1854	6	0.33940	T	0.23	.	14.3001	0.66341	0.072:0.0:0.928:0.0	.	.	.	.	I	579	ENSP00000397377:T579I	ENSP00000397377:T579I	T	-	2	0	0	KIAA1324L	86380313	86380313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.994000	0.56994	2.752000	0.94435	0.655000	0.94253	ACT		0.552	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3		-4.249452	-4	-4	40	40	NM_152748		4	8.78629	8.786290	61	0.061538	0	0	0	1	0	4	61	0.061538
RPP38	10557	broad.mit.edu	37	10	15146062	15146062	+	Missense_Mutation	SNP	G	G	A	rs562959917		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:15146062G>A	ENST00000378197.4	+	3	1263	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.R250Q|NMT2_ENST00000466201.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	250			R -> G (in dbSNP:rs34040166).		RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GCTGACGGTCGGCAGGCTTCT	0.393													G|||	0	0.0	0.0	0.0	5008	,	,		18171	0.0		0.0	False		,,,				2504	0.0				GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4											0			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(748-750)cGg>cAg	ribonuclease P/MRP 38kDa subunit						54.0	59.0	57.0					10																	15146062		2201	4299	6500	SO:0001583	missense	10557			tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15146062G>A	U77664	U77664	CCDS7108.1	CCDS7108.1	10p13	2012-05-21			2012-05-21			ENSG00000152464	ENSG00000152464	ENSG00000152464	ENSG00000152464				30329	30329	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606116	606116						9037013, 9630247	9037013, 9630247	Standard	Standard	NM_183005	NM_183005		Approved		uc001inx.5	uc001inx.5	P78345	P78345	OTTHUMG00000017728	OTTHUMG00000017728	ENST00000378197.4:c.749G>A	10.37:g.15146062G>A	ENSP00000367439:p.Arg250Gln		NMT2_ENST00000466201.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.R250Q|RPP38_ENST00000451677.1_Intron	p.R250Q	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	1263	+			250		B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	c.749G>A	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.041506	0.00402	.	.	ENSG00000152464	ENST00000378203;ENST00000378202;ENST00000378197	T;T;T	0.09073	3.02;3.02;3.02	5.71	-1.81	0.07882	5.71	-1.81	0.07882	.	1.581750	0.03610	N	0.234684	T	0.02649	0.0080	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40664	-0.9551	10	0.10377	T	0.69	-2.3688	5.962	0.19305	0.4555:0.1435:0.401:0.0	.	250	P78345	RPP38_HUMAN	Q	250	ENSP00000367445:R250Q;ENSP00000367444:R250Q;ENSP00000367439:R250Q	ENSP00000367439:R250Q	R	+	2	0	0	RPP38	15186068	15186068	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.064000	0.14437	-0.274000	0.09232	-1.832000	0.00591	CGG		0.393	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1		63.659327	5	5	88	88	NM_006414		22	66.067308	66.067308	50	0.305556	0	0	0	1	0	22	50	0.305556
SLC39A5	283375	broad.mit.edu	37	12	56625257	56625257	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr12:56625257C>A	ENST00000266980.4	+	2	492	c.199C>A	c.(199-201)Cta>Ata	p.L67I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.L67I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	67					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCCTGGGGCTAGGCCGAGT	0.637																																						ENST00000266980.4											0			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(199-201)Cta>Ata	solute carrier family 39 (zinc transporter), member 5						53.0	59.0	57.0					12																	56625257		2203	4300	6503	SO:0001583	missense	283375			zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56625257C>A			CCDS8912.2	CCDS8912.2	12q13.3	2013-07-17	2013-07-17		2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540	ENSG00000139540	ENSG00000139540		"""Solute carriers"""	"""Solute carriers"""	20502	20502	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608730	608730	"""solute carrier family 39 (metal ion transporter), member 5"""		"""solute carrier family 39 (metal ion transporter), member 5"""					Standard	Standard	NM_173596	NM_173596		Approved		uc010sqj.2	uc010sqj.2	Q6ZMH5	Q6ZMH5	OTTHUMG00000156962	OTTHUMG00000156962	ENST00000266980.4:c.199C>A	12.37:g.56625257C>A	ENSP00000266980:p.Leu67Ile		SLC39A5_ENST00000454355.2_Missense_Mutation_p.L67I	p.L67I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			2	492	+			67		B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.199C>A	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854619	0.71719	.	.	ENSG00000139540	ENST00000424625;ENST00000419753;ENST00000454355;ENST00000417965;ENST00000436633;ENST00000266980;ENST00000437277	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	4.6	3.68	0.42216	4.6	3.68	0.42216	.	0.000000	0.41605	D	0.000848	T	0.42810	0.1219	M	0.64567	1.98	0.42150	D	0.991554	D	0.76494	0.999	D	0.78314	0.991	T	0.19712	-1.0297	10	0.16896	T	0.51	-6.2241	12.6317	0.56661	0.0:0.9109:0.0:0.0891	.	67	Q6ZMH5	S39A5_HUMAN	I	67;67;67;67;38;67;67	ENSP00000404155:L67I;ENSP00000402891:L67I;ENSP00000405360:L67I;ENSP00000414868:L67I;ENSP00000391711:L38I;ENSP00000266980:L67I;ENSP00000407399:L67I	ENSP00000266980:L67I	L	+	1	2	2	SLC39A5	54911524	54911524	0.999000	0.42202	0.997000	0.53966	0.990000	0.78478	2.565000	0.45939	2.269000	0.75478	0.561000	0.74099	CTA		0.637	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1		100.645676	-9	-9	52	52	NM_173596		35	101.168386	101.168386	49	0.416667	1	0	9.8876e-21	1	1.12609e-20	35	49	0.416667
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		58.585534	-14	-14	67	67	NM_002067		20	59.485132	59.485132	35	0.363636	0	0	0	1	0	20	35	0.363636
NRCAM	4897	broad.mit.edu	37	7	107871480	107871480	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:107871480T>C	ENST00000425651.2	-	5	544	c.545A>G	c.(544-546)gAt>gGt	p.D182G	NRCAM_ENST00000351718.4_Missense_Mutation_p.D176G|NRCAM_ENST00000379022.4_Missense_Mutation_p.D182G|NRCAM_ENST00000413765.2_Missense_Mutation_p.D182G|NRCAM_ENST00000379028.3_Missense_Mutation_p.D182G|NRCAM_ENST00000379024.4_Missense_Mutation_p.D182G	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	182	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTTACAATTATCCATCCAAAA	0.308																																						ENST00000379028.3											0			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(544-546)gAt>gGt	neuronal cell adhesion molecule						51.0	53.0	52.0					7																	107871480		2202	4300	6502	SO:0001583	missense	4897			angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107871480T>C			CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			2013-02-11			ENSG00000091129	ENSG00000091129	ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	7994	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	"""NgCAM-related cell adhesion molecule"""	601581	601581						8812479	8812479	Standard	Standard	NM_001037132	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	uc022aka.1	Q92823	Q92823	OTTHUMG00000154973	OTTHUMG00000154973	ENST00000425651.2:c.545A>G	7.37:g.107871480T>C	ENSP00000401244:p.Asp182Gly		NRCAM_ENST00000413765.2_Missense_Mutation_p.D182G|NRCAM_ENST00000351718.4_Missense_Mutation_p.D176G|NRCAM_ENST00000379024.4_Missense_Mutation_p.D182G|NRCAM_ENST00000379022.4_Missense_Mutation_p.D182G|NRCAM_ENST00000425651.2_Missense_Mutation_p.D182G	p.D182G			Q92823	NRCAM_HUMAN			8	1015	-			182	Ig-like 2.	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.545A>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560350	0.86335	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.8	4.8	0.61643	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095855	0.64402	D	0.000001	T	0.55862	0.1947	M	0.62723	1.935	0.80722	D	1	P;P;P;P;P	0.50528	0.906;0.936;0.871;0.906;0.796	P;P;P;P;P	0.58013	0.615;0.831;0.648;0.615;0.581	T	0.53507	-0.8429	10	0.33141	T	0.24	.	14.8154	0.70031	0.0:0.0:0.0:1.0	.	182;182;182;176;182	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	G	182;182;182;182;176;182;182;182;176;176	ENSP00000368314:D182G;ENSP00000407858:D182G;ENSP00000325269:D176G;ENSP00000368310:D182G;ENSP00000401244:D182G;ENSP00000368308:D182G;ENSP00000390421:D176G	ENSP00000325269:D176G	D	-	2	0	0	NRCAM	107658716	107658716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.132000	0.65825	0.528000	0.53228	GAT		0.308	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2		68.469737	-44	-44	50	50	NM_001037132		24	71.183779	71.183779	55	0.303797	0	0	0	1	0	24	55	0.303797
CENPI	2491	broad.mit.edu	37	X	100357392	100357392	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chrX:100357392G>A	ENST00000372927.1	+	3	633	c.356G>A	c.(355-357)gGc>gAc	p.G119D	CENPI_ENST00000372926.1_Missense_Mutation_p.G119D|CENPI_ENST00000218507.5_Missense_Mutation_p.G119D|CENPI_ENST00000423383.1_Missense_Mutation_p.G119D	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	119					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GCACTCAGTGGCAAATTTGGT	0.289																																						ENST00000372927.1											0			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(355-357)gGc>gAc	centromere protein I						95.0	100.0	98.0					X																	100357392		2203	4299	6502	SO:0001583	missense	2491			CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100357392G>A	X97249	X97249	CCDS14479.1	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384	ENSG00000102384	ENSG00000102384				3968	3968	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300065	300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	16622420	Standard	Standard	NM_006733	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	uc004egx.3	Q92674	Q92674	OTTHUMG00000022018	OTTHUMG00000022018	ENST00000372927.1:c.356G>A	X.37:g.100357392G>A	ENSP00000362018:p.Gly119Asp		CENPI_ENST00000218507.5_Missense_Mutation_p.G119D|CENPI_ENST00000423383.1_Missense_Mutation_p.G119D|CENPI_ENST00000372926.1_Missense_Mutation_p.G119D	p.G119D	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			3	633	+			119		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.356G>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355433	0.41700	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.155066	0.64402	D	0.000018	T	0.76737	0.4029	M	0.73598	2.24	0.51233	D	0.999915	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.973	T	0.73820	-0.3862	9	0.20519	T	0.43	-8.0103	16.1869	0.81960	0.0:0.0:1.0:0.0	.	119;119	B4DZL4;Q92674	.;CENPI_HUMAN	D	119	.	ENSP00000218507:G119D	G	+	2	0	0	CENPI	100244048	100244048	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.002000	0.76304	2.276000	0.75962	0.538000	0.68166	GGC		0.289	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1		-10.570514	-39	-39	109	109	NM_006733		4	6.353119	6.353119	75	0.050633	0	0	0	1	0	4	75	0.050633
ZNF341	84905	broad.mit.edu	37	20	32358081	32358081	+	Silent	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr20:32358081G>A	ENST00000375200.1	+	10	1970	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	ZNF341_ENST00000342427.2_Silent_p.K528K	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCCCCAAGAAGGACAATGCCG	0.647																																						ENST00000375200.1											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(1603-1605)aaG>aaA	zinc finger protein 341						101.0	75.0	84.0					20																	32358081		2203	4300	6503	SO:0001819	synonymous_variant	84905			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32358081G>A	AK027550	AK027550	CCDS13227.1, CCDS74719.1	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			2013-01-08			ENSG00000131061	ENSG00000131061	ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	15992	15992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001282933	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	uc002wzx.3	Q9BYN7	Q9BYN7	OTTHUMG00000032275	OTTHUMG00000032275	ENST00000375200.1:c.1605G>A	20.37:g.32358081G>A			ZNF341_ENST00000342427.2_Silent_p.K528K	p.K535K	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN			10	1970	+			535		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37	c.1605G>A																																																																																										0.647	ZNF341-201	KNOWN	basic	protein_coding	protein_coding			95.146166	0	0	36	36			27	98.756422	98.756422	5	0.843750	0	0	0	1	0	27	5	0.84375
IGFBP3	3486	broad.mit.edu	37	7	45956889	45956889	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:45956889G>A	ENST00000275521.6	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.R88C|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R191C	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	185					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)	p.R185C(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTTTGTAGCGCTGGCTGTCT	0.507											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275521.6											1	Substitution - Missense(1)	pancreas(1)	large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(553-555)Cgc>Tgc	insulin-like growth factor binding protein 3						168.0	148.0	154.0					7																	45956889		2203	4300	6503	SO:0001583	missense	3486			negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956889G>A			CCDS5505.1, CCDS34632.1	CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			2014-09-17			ENSG00000146674	ENSG00000146674	ENSG00000146674	ENSG00000146674				5472	5472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732	146732						1695633	1695633	Standard	Standard	NM_000598	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	uc003tnr.3	P17936	P17936	OTTHUMG00000023769	OTTHUMG00000023769	ENST00000275521.6:c.553C>T	7.37:g.45956889G>A	ENSP00000275521:p.Arg185Cys	935	IGFBP3_ENST00000381086.5_Missense_Mutation_p.R88C|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R191C|IGFBP3_ENST00000465642.1_5'UTR	p.R185C	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN			2	686	-			185		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.553C>T	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.118696|4.118696	0.77323|0.77323	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000417621|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	.|T;T;T;T	.|0.28255	.|2.32;1.66;2.32;1.62	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Thyroglobulin type-1 (1);	.|2.918300	.|0.00843	.|N	.|0.001760	T|T	0.63988|0.63988	0.2558|0.2558	M|M	0.81239|0.81239	2.535|2.535	0.45733|0.45733	D|D	0.998635|0.998635	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.66351	.|0.943;0.943;0.943	T|T	0.37709|0.37709	-0.9694|-0.9694	5|10	.|0.72032	.|D	.|0.01	-52.4084|-52.4084	15.0203|15.0203	0.71624|0.71624	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|88;185;170	.|B3KWK7;P17936;B4DN53	.|.;IBP3_HUMAN;.	V|C	46|162;185;88;171;83;191;157;75	.|ENSP00000275521:R185C;ENSP00000370476:R88C;ENSP00000370473:R191C;ENSP00000389668:R75C	.|ENSP00000275521:R185C	A|R	-|-	2|1	0|0	0|0	IGFBP3|IGFBP3	45923414|45923414	45923414|45923414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.779000|4.779000	0.62375|0.62375	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.507	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3		61.975147	-29	-29	98	98	NM_001013398		27	70.494931	70.494931	94	0.223140	0	0	0	1	0	27	94	0.22314
SHROOM2	357	broad.mit.edu	37	X	9864553	9864553	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chrX:9864553A>G	ENST00000380913.3	+	4	2695	c.2605A>G	c.(2605-2607)Agg>Ggg	p.R869G		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	869					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTGCCGCGGAGGCTCGGCAC	0.637																																						ENST00000380913.3											0			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(2605-2607)Agg>Ggg	shroom family member 2						22.0	21.0	21.0					X																	9864553		2202	4299	6501	SO:0001583	missense	357			apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864553A>G	X83543	X83543	CCDS14135.1	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950	ENSG00000146950	ENSG00000146950				630	630	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300103	300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	7795590, 16615870	Standard	Standard	NM_001649	NM_001649		Approved		uc004csu.1	uc004csu.1	Q13796	Q13796	OTTHUMG00000021121	OTTHUMG00000021121	ENST00000380913.3:c.2605A>G	X.37:g.9864553A>G	ENSP00000370299:p.Arg869Gly			p.R869G	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	2695	+		Hepatocellular(5;0.000888)	869		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.2605A>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822871	0.32237	.	.	ENSG00000146950	ENST00000380913	T	0.24723	1.84	5.02	-0.581	0.11713	5.02	-0.581	0.11713	.	0.108809	0.64402	D	0.000017	T	0.43344	0.1243	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.17715	-1.0360	10	0.72032	D	0.01	-9.3072	10.1122	0.42570	0.3654:0.5241:0.0:0.1105	.	869	Q13796	SHRM2_HUMAN	G	869	ENSP00000370299:R869G	ENSP00000370299:R869G	R	+	1	2	2	SHROOM2	9824553	9824553	0.994000	0.37717	0.000000	0.03702	0.005000	0.04900	1.750000	0.38329	-0.514000	0.06488	-0.371000	0.07208	AGG		0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		8.721266	-3	-3	16	16	NM_001649		3	9.078531	9.078531	7	0.300000	0	0	0	1	0	3	7	0.3
OR1Q1	158131	broad.mit.edu	37	9	125377737	125377737	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:125377737T>C	ENST00000297913.2	+	1	790	c.721T>C	c.(721-723)Tgc>Cgc	p.C241R	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	241					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTTTCTACCTGCGGCTCCCA	0.562																																						ENST00000297913.2											0			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(721-723)Tgc>Cgc	olfactory receptor, family 1, subfamily Q, member 1						83.0	84.0	84.0					9																	125377737		2203	4300	6503	SO:0001583	missense	158131			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377737T>C			CCDS35125.1	CCDS35125.1	9q33.2	2013-09-20			2013-09-20			ENSG00000165202	ENSG00000165202	ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	8223	8223	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR1Q2, OR1Q3		OR1Q2, OR1Q3				Standard	Standard	NM_012364	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	uc011lyy.2	Q15612	Q15612	OTTHUMG00000020615	OTTHUMG00000020615	ENST00000297913.2:c.721T>C	9.37:g.125377737T>C	ENSP00000297913:p.Cys241Arg		RP11-64P14.7_ENST00000431442.1_RNA	p.C241R	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	790	+			241		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.721T>C	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767025	0.69878	.	.	ENSG00000165202	ENST00000297913	T	0.00372	7.73	5.57	5.57	0.84162	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000050	T	0.02047	0.0064	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03750	-1.1007	10	0.87932	D	0	-1.414	14.8569	0.70344	0.0:0.0:0.0:1.0	.	241	Q15612	OR1Q1_HUMAN	R	241	ENSP00000297913:C241R	ENSP00000297913:C241R	C	+	1	0	0	OR1Q1	124417558	124417558	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.971000	0.70440	2.340000	0.79590	0.528000	0.53228	TGC		0.562	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1		-8.264093	-17	-17	81	81			4	7.009818	7.009818	69	0.054795	0	0	0	1	0	4	69	0.054795
PRKG1	5592	broad.mit.edu	37	10	52751284	52751284	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:52751284T>G	ENST00000401604.2	+	1	340	c.146T>G	c.(145-147)gTg>gGg	p.V49G	PRKG1_ENST00000373985.1_Missense_Mutation_p.V37G			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	49	Required for dimerization.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTGCTCCCAGTGCCCTCGACC	0.622																																						ENST00000373985.1											0			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(109-111)gTg>gGg	protein kinase, cGMP-dependent, type I						27.0	36.0	33.0					10																	52751284		1911	4126	6037	SO:0001583	missense	5592			actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:52751284T>G			CCDS7244.1	CCDS7244.1	10q11.2	2009-07-10			2009-07-10			ENSG00000185532	ENSG00000185532	ENSG00000185532	ENSG00000185532	2.7.11.1			9414	9414	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176894	176894		PRKGR1B, PRKG1B		PRKGR1B, PRKG1B		2792381, 1544322	2792381, 1544322	Standard	Standard	NM_001098512	NM_001098512		Approved	PGK, PKG	uc001jjo.3	uc001jjo.3	Q13976	Q13976	OTTHUMG00000018248	OTTHUMG00000018248	ENST00000401604.2:c.146T>G	10.37:g.52751284T>G	ENSP00000384200:p.Val49Gly		PRKG1_ENST00000401604.2_Missense_Mutation_p.V49G	p.V37G	NM_001098512.2	NP_001091982.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	1	167	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	49	Dimerization.	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.110T>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	T	9.623	1.134261	0.21123	.	.	ENSG00000185532	ENST00000401604;ENST00000373985	T;T	0.68181	-0.31;-0.29	4.93	1.11	0.20524	4.93	1.11	0.20524	Cyclic nucleotide-binding-like (1);	.	.	.	.	T	0.37544	0.1007	N	0.08118	0	0.34786	D	0.735233	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.23013	-1.0200	9	0.17369	T	0.5	.	3.9591	0.09403	0.0:0.2518:0.1872:0.561	.	49;49	B4DT93;Q13976	.;KGP1_HUMAN	G	49;37	ENSP00000384200:V49G;ENSP00000363097:V37G	ENSP00000363097:V37G	V	+	2	0	0	PRKG1	52421290	52421290	1.000000	0.71417	0.988000	0.46212	0.721000	0.41392	0.591000	0.23969	0.226000	0.20979	0.260000	0.18958	GTG		0.622	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			18.750776	3	3	12	12			6	18.77057	18.770570	5	0.545455	0	0	0	1	0	6	5	0.545455
PHF7	51533	broad.mit.edu	37	3	52443612	52443613	+	5'Flank	INS	-	-	C	rs397509413		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr3:52443612_52443613insC	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Frame_Shift_Ins_p.V27fs|BAP1_ENST00000460680.1_Frame_Shift_Ins_p.V27fs|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTCCACTTGCACCCCCTTGACA	0.629																																						ENST00000460680.1											0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(79-81)gtgfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443612_52443613insC	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"""Zinc fingers, PHD-type"""		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52443617_52443617dupC	Exception_encountered		BAP1_ENST00000296288.5_Frame_Shift_Ins_p.V27fs	p.V27fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	550_551	-			27		K4DI82	Frame_Shift_Ins	INS	ENST00000327906.3	37	c.79_80insG	CCDS2854.1																																																																																									0.629	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	.	.	-59	-59	177	177	NM_016483		131			24	0.85						131	24	0.85
DHTKD1	55526	broad.mit.edu	37	10	12159715	12159721	+	Frame_Shift_Del	DEL	TTAACCC	TTAACCC	-	rs201639053		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:12159715_12159721delTTAACCC	ENST00000263035.4	+	14	2425_2431	c.2363_2369delTTAACCC	c.(2362-2370)tttaacccgfs	p.FNP788fs	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	788					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGAACAACATTTAACCCGGTCATTGGT	0.42																																						ENST00000263035.4											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2362-2370)tttaacccgfs	dehydrogenase E1 and transketolase domain containing 1																																			SO:0001589	frameshift_variant	55526			glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12159715_12159721delTTAACCC	BC002477	BC002477	CCDS7087.1	CCDS7087.1	10p14	2003-11-24			2003-11-24			ENSG00000181192	ENSG00000181192	ENSG00000181192	ENSG00000181192				23537	23537	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614984	614984						10997877	10997877	Standard	Standard	NM_018706	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	uc001ild.5	Q96HY7	Q96HY7	OTTHUMG00000017677	OTTHUMG00000017677	ENST00000263035.4:c.2363_2369delTTAACCC	10.37:g.12159715_12159721delTTAACCC	ENSP00000263035:p.Phe788fs			p.FNP788fs	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2425_2431	+		Renal(717;0.228)	788		Q68CU5|Q9BUM8|Q9HCE2	Frame_Shift_Del	DEL	ENST00000263035.4	37	c.2363_2369delTTAACCC	CCDS7087.1																																																																																									0.420	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	.	.	-26	-26	100	100	NM_018706		46			41	0.53						46	41	0.53
WDR34	89891	hgsc.bcm.edu	37	9	131396572	131396597	+	Frame_Shift_Del	DEL	GAGGGAGAGCTGCAGCGAAGTCAAGG	GAGGGAGAGCTGCAGCGAAGTCAAGG	-	rs373865808|rs113007289		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08	GAGGGAGAGCTGCAGCGAAGTCAAGG	GAGGGAGAGCTGCAGCGAAGTCAAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:131396572_131396597delGAGGGAGAGCTGCAGCGAAGTCAAGG	ENST00000372715.2	-	8	1340_1365	c.1280_1305delCCTTGACTTCGCTGCAGCTCTCCCTC	c.(1279-1305)cccttgacttcgctgcagctctccctcfs	p.PLTSLQLSL427fs	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	427						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTG	0.597																																																	0																																														SO:0001589	frameshift_variant	89891							BC011874	BC011874	CCDS6906.2	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	"""WD repeat domain containing"""	28296	28296	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613363	613363						19521662, 21953912, 24183451	19521662, 21953912, 24183451	Standard	Standard	NM_052844	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	uc004bvq.1	Q96EX3	Q96EX3	OTTHUMG00000020750	OTTHUMG00000020750	ENST00000372715.2:c.1280_1305delCCTTGACTTCGCTGCAGCTCTCCCTC	9.37:g.131396572_131396597delGAGGGAGAGCTGCAGCGAAGTCAAGG	ENSP00000361800:p.Pro427fs																	Q5VXV4|Q9BV46	Frame_Shift_Del	DEL	ENST00000372715.2	37		CCDS6906.2																																																																																									0.597	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1			-23	-23	83	83	NM_052844		13			26							13	26	
SCN8A	6334	broad.mit.edu	37	12	52082555	52082555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr12:52082555delT	ENST00000354534.6	+	6	806	c.628delT	c.(628-630)tttfs	p.F210fs	SCN8A_ENST00000545061.1_Frame_Shift_Del_p.F210fs|SCN8A_ENST00000550891.1_Intron	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	210					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TATAACAGAGTTTGTAAACCT	0.448																																						ENST00000354534.6											0			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(628-630)tttfs	sodium channel, voltage gated, type VIII, alpha subunit						176.0	172.0	174.0					12																	52082555		2021	4217	6238	SO:0001589	frameshift_variant	6334			axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52082555delT	AB027567	AB027567	CCDS44891.1, CCDS53794.1	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23		2012-02-26	2007-01-23			ENSG00000196876		ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	10596	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600702	600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	7670495, 9828131, 16382098	Standard	Standard	NM_014191	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	uc001ryw.4	Q9UQD0	Q9UQD0			ENST00000354534.6:c.628delT	12.37:g.52082555delT	ENSP00000346534:p.Phe210fs		SCN8A_ENST00000550891.1_Intron|SCN8A_ENST00000545061.1_Frame_Shift_Del_p.F210fs	p.F210fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	6	806	+					B9VWG8|O95788|Q9NYX2|Q9UPB2	Frame_Shift_Del	DEL	ENST00000354534.6	37	c.628delT	CCDS44891.1																																																																																									0.448	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	.	.	-18	-18	101	101	NM_014191		9			158	0.05						9	158	0.05
