#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LPHN2	23266	broad.mit.edu	37	1	82409004	82409004	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:82409004A>G	ENST00000370728.1	+	8	1394	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C			O95490	LPHN2_HUMAN	latrophilin 2	250	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.Y250C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATGCCAACTACCATGATACC	0.403																																						ENST00000370728.1																			2	Substitution - Missense(2)	p.Y250C(2)	prostate(2)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(748-750)tAc>tGc		latrophilin 2							127.0	124.0	125.0					1																	82409004		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409004A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.749A>G	1.37:g.82409004A>G	ENSP00000359763:p.Tyr250Cys					LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron	p.Y250C			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1394	+			250			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.749A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.94|16.94	3.260366|3.260366	0.59431|0.59431	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89875	.|-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94647|0.94647	0.8274|0.8274	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.991;0.996	D|D	0.95633|0.95633	0.8691|0.8691	5|10	.|0.87932	.|D	.|0	.|.	15.8525|15.8525	0.78943|0.78943	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250;250;250	.|O95490-3;O95490-4;O95490-2	.|.;.;.	A|C	118|254;250;250;250;250;250;250;250;250;250;250;250;250;250	.|ENSP00000359756:Y254C;ENSP00000359763:Y250C;ENSP00000359765:Y250C;ENSP00000359762:Y250C;ENSP00000359760:Y250C;ENSP00000359758:Y250C;ENSP00000353006:Y250C;ENSP00000359750:Y250C;ENSP00000359748:Y250C;ENSP00000322270:Y250C;ENSP00000359752:Y250C;ENSP00000378344:Y250C;ENSP00000271029:Y250C;ENSP00000337306:Y250C	.|ENSP00000271029:Y250C	T|Y	+|+	1|2	0|0	LPHN2|LPHN2	82181592|82181592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.962000|8.962000	0.93254|0.93254	2.142000|2.142000	0.66516|0.66516	0.374000|0.374000	0.22700|0.22700	ACC|TAC		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		30	130	0	0	0	1	0	30	130				
MCM6	4175	broad.mit.edu	37	2	136610460	136610460	+	Missense_Mutation	SNP	C	C	T	rs200697022		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr2:136610460C>T	ENST00000264156.2	-	12	1712	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.R551H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ATCTACTATGCGCCTGGCAAT	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			1	Substitution - Missense(1)	p.R551H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1651-1653)cGc>cAc		minichromosome maintenance complex component 6	Atorvastatin(DB01076)	C	HIS/ARG	0,4406		0,0,2203	94.0	87.0	90.0		1652	5.8	1.0	2		90	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MCM6	NM_005915.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	551/822	136610460	1,13005	2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136610460C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1652G>A	2.37:g.136610460C>T	ENSP00000264156:p.Arg551His					MCM6_ENST00000492091.1_Intron	p.R551H	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1712	-			551			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1652G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656269	0.47467	0.0	1.16E-4	ENSG00000076003	ENST00000264156	T	0.05081	3.5	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.03136	0.0092	N	0.03000	-0.44	0.80722	D	1	P	0.43024	0.798	B	0.38458	0.274	T	0.46400	-0.9194	10	0.02654	T	1	-9.537	19.978	0.97315	0.0:1.0:0.0:0.0	.	551	Q14566	MCM6_HUMAN	H	551	ENSP00000264156:R551H	ENSP00000264156:R551H	R	-	2	0	MCM6	136326930	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.440000	0.80464	2.733000	0.93635	0.557000	0.71058	CGC		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		23	112	0	0	0	1	0	23	112				
HIF1A	3091	broad.mit.edu	37	14	62199180	62199180	+	Missense_Mutation	SNP	G	G	A	rs61755644		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:62199180G>A	ENST00000337138.4	+	7	1083	c.818G>A	c.(817-819)cGc>cAc	p.R273H	HIF1A_ENST00000394997.1_Missense_Mutation_p.R274H|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	273	Interaction with TSGA10. {ECO:0000250}.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CTTTTAGGCCGCTCAATTTAT	0.323																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(820-822)cGc>cAc		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							139.0	143.0	142.0					14																	62199180		2203	4299	6502	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62199180G>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.818G>A	14.37:g.62199180G>A	ENSP00000338018:p.Arg273His					HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H|HIF1A_ENST00000337138.4_Missense_Mutation_p.R273H|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A-AS2_ENST00000554254.1_lincRNA	p.R274H			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	7	1086	+			273			Interaction with TSGA10 (By similarity).|PAS 2.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.821G>A	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802653	0.70682	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.57	4.68	0.58851	PAS fold-3 (1);PAS (3);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.58969	1.84	0.80722	D	1	P;P;P	0.51449	0.809;0.945;0.945	B;B;B	0.43754	0.236;0.43;0.43	T	0.27054	-1.0085	10	0.66056	D	0.02	.	14.4042	0.67071	0.0711:0.0:0.9289:0.0	rs61755644	274;273;273	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	H	24;214;273;274;273;214;297	ENSP00000338018:R273H;ENSP00000378446:R274H;ENSP00000323326:R273H;ENSP00000451696:R214H;ENSP00000437955:R297H	ENSP00000323326:R273H	R	+	2	0	HIF1A	61268933	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.640000	0.74319	1.348000	0.45733	0.650000	0.86243	CGC		0.323	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		5	334	0	0	0	1	0	5	334				
API5	8539	broad.mit.edu	37	11	43345105	43345105	+	Silent	SNP	A	A	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:43345105A>C	ENST00000531273.1	+	6	808	c.669A>C	c.(667-669)ctA>ctC	p.L223L	API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_Silent_p.L223L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000420461.2_Silent_p.L169L			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	223	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L223L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGCCGACCTAGAACAGACCT	0.463																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			1	Substitution - coding silent(1)	p.L223L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(667-669)ctA>ctC		apoptosis inhibitor 5							138.0	132.0	134.0					11																	43345105		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43345105A>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.669A>C	11.37:g.43345105A>C						API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000531273.1_Silent_p.L223L	p.L223L	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			6	794	+			223					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.669A>C	CCDS44572.1																																																																																				0.463	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		34	158	0	0	0	1	0	34	158				
TM9SF2	9375	broad.mit.edu	37	13	100206634	100206634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:100206634C>T	ENST00000376387.4	+	14	1755	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	522					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.P522L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAGCCCTTGCCTGGTATTATC	0.418																																						ENST00000376387.4																			1	Substitution - Missense(1)	p.P522L(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(1564-1566)cCt>cTt		transmembrane 9 superfamily member 2							152.0	144.0	147.0					13																	100206634		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100206634C>T	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1565C>T	13.37:g.100206634C>T	ENSP00000365567:p.Pro522Leu						p.P522L	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			14	1755	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		522					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.1565C>T	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428830	0.25726	.	.	ENSG00000125304	ENST00000376387	T	0.39406	1.08	5.93	5.08	0.68730	.	0.049086	0.85682	D	0.000000	T	0.40171	0.1106	L	0.58510	1.815	0.80722	D	1	B;B	0.15719	0.014;0.008	B;B	0.16289	0.01;0.015	T	0.31668	-0.9935	10	0.11182	T	0.66	-11.5345	17.1544	0.86787	0.0:0.8737:0.1263:0.0	.	488;522	E9PHW5;Q99805	.;TM9S2_HUMAN	L	522	ENSP00000365567:P522L	ENSP00000365567:P522L	P	+	2	0	TM9SF2	99004635	1.000000	0.71417	0.977000	0.42913	0.985000	0.73830	7.619000	0.83057	1.499000	0.48617	0.655000	0.94253	CCT		0.418	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			43	154	0	0	0	1	0	43	154				
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:70349258C>T	ENST00000374080.3	+	26	3702	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000333646.6_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F			Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		14	Substitution - Missense(12)|Complex(2)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)	prostate(12)|lung(2)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3670-3672)Ctc>Ttc		mediator complex subunit 12							49.0	51.0	51.0					X																	70349258		2086	4189	6275	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349258C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3670C>T	X.37:g.70349258C>T	ENSP00000363193:p.Leu1224Phe		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3869	+	Renal(35;0.156)		1224					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3670C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946602	0.73672	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.65100	-0.6250	10	0.87932	D	0	-17.5145	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1224;1071;1224;1224	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	1224;1224;1224;1224;1192	ENSP00000333125:L1224F;ENSP00000363215:L1224F;ENSP00000363193:L1224F;ENSP00000414203:L1192F	ENSP00000333125:L1224F	L	+	1	0	MED12	70265983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.474000	0.53129	2.509000	0.84616	0.529000	0.55759	CTC		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		11	34	0	0	0	1	0	11	34				
TSC1	7248	broad.mit.edu	37	9	135780989	135780989	+	Missense_Mutation	SNP	G	G	A	rs118203609		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:135780989G>A	ENST00000298552.3	-	15	2197	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	TSC1_ENST00000545250.1_Missense_Mutation_p.A608V|TSC1_ENST00000440111.2_Missense_Mutation_p.A659V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	659					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTGCTGTGCGCGTCTGCTCC	0.478			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(1975-1977)gCg>gTg		tuberous sclerosis 1		G	VAL/ALA,VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	195.0	172.0	180.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1976,1973,1823	3.9	0.3	9	dbSNP_132	180	0,8600		0,0,4300	no	missense,missense,missense	TSC1	NM_000368.4,NM_001162426.1,NM_001162427.1	64,64,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign	659/1165,658/1164,608/1114	135780989	2,13004	2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135780989G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1976C>T	9.37:g.135780989G>A	ENSP00000298552:p.Ala659Val					TSC1_ENST00000545250.1_Missense_Mutation_p.A608V|TSC1_ENST00000440111.2_Missense_Mutation_p.A659V	p.A659V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	2197	-			659					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.1976C>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954298	0.53293	4.54E-4	0.0	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.91686	-2.89;-2.89;-2.89	5.74	3.91	0.45181	.	0.202935	0.52532	N	0.000077	D	0.88134	0.6355	L	0.46885	1.475	0.80722	D	1	B;B	0.23249	0.082;0.082	B;B	0.25759	0.063;0.063	T	0.82096	-0.0626	10	0.28530	T	0.3	-4.1833	11.4	0.49864	0.1455:0.0:0.8545:0.0	.	608;659	B7Z897;Q92574	.;TSC1_HUMAN	V	659;659;608	ENSP00000298552:A659V;ENSP00000394524:A659V;ENSP00000444017:A608V	ENSP00000298552:A659V	A	-	2	0	TSC1	134770810	1.000000	0.71417	0.260000	0.24451	0.937000	0.57800	5.630000	0.67805	0.780000	0.33566	0.650000	0.86243	GCG		0.478	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			5	230	0	0	0	1	0	5	230				
ADRA2A	150	broad.mit.edu	37	10	112838922	112838922	+	Missense_Mutation	SNP	G	G	T	rs375454021		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:112838922G>T	ENST00000280155.2	+	1	2133	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	375					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.V375L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCACGTTCGTGCTGGCCGT	0.697																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			1	Substitution - Missense(1)	p.V375L(1)	prostate(1)	breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1168-1170)Gtg>Ttg		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						121.0	98.0	106.0					10																	112838922		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838922G>T	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1168G>T	10.37:g.112838922G>T	ENSP00000280155:p.Val390Leu						p.V390L	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2133	+		Breast(234;0.0735)|Lung NSC(174;0.238)	375					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.1168G>T	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748194	0.89663	.	.	ENSG00000150594	ENST00000280155	T	0.35048	1.33	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.64940	0.2644	M	0.88241	2.94	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.73981	-0.3811	10	0.56958	D	0.05	.	15.2452	0.73502	0.0:0.0:1.0:0.0	.	375	P08913	ADA2A_HUMAN	L	390	ENSP00000280155:V390L	ENSP00000280155:V390L	V	+	1	0	ADRA2A	112828912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.133000	0.94460	1.839000	0.53478	0.462000	0.41574	GTG		0.697	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		20	51	1	0	9.95505e-16	1	1.12649e-15	20	51				
DYRK1A	1859	broad.mit.edu	37	21	38858790	38858790	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr21:38858790G>A	ENST00000398960.2	+	5	613	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000339659.4_Missense_Mutation_p.V171M|DYRK1A_ENST00000455387.2_5'Flank|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.V180M(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATATGATCGTGTGGAGCAAGA	0.308																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			1	Substitution - Missense(1)	p.V180M(1)	prostate(1)	breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(511-513)Gtg>Atg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							85.0	86.0	85.0					21																	38858790		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38858790G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.538G>A	21.37:g.38858790G>A	ENSP00000381932:p.Val180Met					DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M	p.V171M	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			5	1981	+			180			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.511G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170939	0.57584	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117105	0.56097	D	0.000021	T	0.63628	0.2527	L	0.59967	1.855	0.80722	D	1	B;B;P;B;B	0.34724	0.002;0.002;0.465;0.161;0.002	B;B;B;B;B	0.37451	0.001;0.001;0.25;0.162;0.001	T	0.60239	-0.7302	9	.	.	.	.	19.8426	0.96695	0.0:0.0:1.0:0.0	.	180;180;180;171;180	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	M	180;171;180;180;180;180	ENSP00000342690:V180M;ENSP00000340373:V171M;ENSP00000319032:V180M;ENSP00000416089:V180M;ENSP00000381932:V180M;ENSP00000381929:V180M	.	V	+	1	0	DYRK1A	37780660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.846000	0.55888	2.751000	0.94390	0.591000	0.81541	GTG		0.308	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		36	167	0	0	0	1	0	36	167				
MYO16	23026	broad.mit.edu	37	13	109779876	109779876	+	Silent	SNP	G	G	A	rs371834027	byFrequency	TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:109779876G>A	ENST00000357550.2	+	30	4004	c.3963G>A	c.(3961-3963)gcG>gcA	p.A1321A	MYO16_ENST00000457511.2_Silent_p.A833A|MYO16_ENST00000356711.2_Silent_p.A1321A	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1321A(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCTCCGCGGCCAGGGAAG	0.687																																						ENST00000356711.2																			1	Substitution - coding silent(1)	p.A1321A(1)	prostate(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3961-3963)gcG>gcA		myosin XVI							18.0	21.0	20.0					13																	109779876		2198	4294	6492	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779876G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3963G>A	13.37:g.109779876G>A						MYO16_ENST00000457511.2_Silent_p.A833A|MYO16_ENST00000357550.2_Silent_p.A1321A	p.A1321A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4089	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1321						Silent	SNP	ENST00000357550.2	37	c.3963G>A	CCDS32008.1																																																																																				0.687	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		3	23	0	0	0	1	0	3	23				
CCDC7	79741	broad.mit.edu	37	10	32856779	32856779	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856779G>T	ENST00000362006.5	+	16	1922	c.1379G>T	c.(1378-1380)gGt>gTt	p.G460V	C10orf68_ENST00000375028.3_5'UTR|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460V(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATTCAGGTGGACAAAGG	0.328																																						ENST00000362006.5																			1	Substitution - Missense(1)	p.G460V(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(1378-1380)gGt>gTt		coiled-coil domain containing 7							77.0	77.0	77.0					10																	32856779		2203	4300	6503	SO:0001583	missense	221016							g.chr10:32856779G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1379G>T	10.37:g.32856779G>T	ENSP00000355078:p.Gly460Val					C10orf68_ENST00000375028.3_5'UTR|C10orf68_ENST00000375030.2_5'UTR|C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V	p.G460V	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN			16	1922	+		Breast(68;0.000207)|Prostate(175;0.0107)	460					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.1379G>T	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766010	0.49574	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.60548	1.09;1.09;0.18	4.69	-3.39	0.04868	.	.	.	.	.	T	0.44787	0.1310	N	0.24115	0.695	0.09310	N	0.999999	D	0.54047	0.964	P	0.50109	0.631	T	0.41645	-0.9497	9	0.62326	D	0.03	-4.4983	5.2609	0.15573	0.48:0.2875:0.2325:0.0	.	460	Q96M83	CCDC7_HUMAN	V	460;460;129	ENSP00000277657:G460V;ENSP00000355078:G460V;ENSP00000401923:G129V	ENSP00000277657:G460V	G	+	2	0	CCDC7	32896785	0.000000	0.05858	0.001000	0.08648	0.240000	0.25518	-0.606000	0.05654	-0.568000	0.06038	-0.182000	0.12963	GGT		0.328	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		9	89	1	0	4.36969e-10	1	4.69742e-10	9	89				
ADAMTS9	56999	broad.mit.edu	37	3	64554181	64554181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:64554181G>A	ENST00000498707.1	-	29	4729	c.4387C>T	c.(4387-4389)Caa>Taa	p.Q1463*	ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000601022.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1463	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q1463*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACATTTCGTTGTTTATGCCCT	0.428																																						ENST00000498707.1																			1	Substitution - Nonsense(1)	p.Q1463*(1)	prostate(1)	breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4387-4389)Caa>Taa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							148.0	137.0	140.0					3																	64554181		2203	4300	6503	SO:0001587	stop_gained	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64554181G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4387C>T	3.37:g.64554181G>A	ENSP00000418735:p.Gln1463*					ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA	p.Q1463*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	29	4729	-		Lung NSC(201;0.00682)	1463			TSP type-1 11.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	ENST00000498707.1	37	c.4387C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	46	12.237348	0.99649	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	.	.	.	5.68	5.68	0.88126	.	0.449653	0.24647	N	0.036748	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	9.2975	0.37824	0.0724:0.0:0.7824:0.1452	.	.	.	.	X	1435;1463	.	ENSP00000295903:Q1435X	Q	-	1	0	ADAMTS9	64529221	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.679000	0.54634	2.843000	0.97960	0.650000	0.86243	CAA		0.428	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			32	153	0	0	0	1	0	32	153				
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443																																						ENST00000303324.2																			1	Substitution - coding silent(1)	p.I216I(1)	prostate(1)	cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(646-648)atA>atC		olfactory receptor, family 2, subfamily B, member 2							124.0	111.0	115.0					6																	27879450		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879450T>G	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.648A>C	6.37:g.27879450T>G							p.I216I	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	724	-			216					B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.648A>C	CCDS4641.1																																																																																				0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			6	169	0	0	0	1	0	6	169				
KRT78	196374	broad.mit.edu	37	12	53238473	53238473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:53238473G>A	ENST00000304620.4	-	5	854	c.791C>T	c.(790-792)aCg>aTg	p.T264M	KRT78_ENST00000359499.4_Missense_Mutation_p.T154M	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	264	Linker 12.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T264M(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCACAGACGTGTCGCTGGC	0.622																																						ENST00000359499.4																			2	Substitution - Missense(2)	p.T264M(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(460-462)aCg>aTg		keratin 78							78.0	65.0	70.0					12																	53238473		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238473G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.791C>T	12.37:g.53238473G>A	ENSP00000306261:p.Thr264Met					KRT78_ENST00000304620.4_Missense_Mutation_p.T264M	p.T154M			Q8N1N4	K2C78_HUMAN			5	472	-			264			Linker 1.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.461C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504042	0.44558	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	D;D;D	0.89415	-2.31;-2.31;-2.51	5.28	-0.819	0.10829	Filament (1);	0.783752	0.10428	N	0.675841	D	0.84880	0.5570	L	0.60957	1.885	0.09310	N	1	B	0.27286	0.174	B	0.20955	0.032	T	0.71803	-0.4482	10	0.51188	T	0.08	.	10.5453	0.45056	0.4971:0.0:0.5029:0.0	.	264	Q8N1N4	K2C78_HUMAN	M	154;264;35;35	ENSP00000352479:T154M;ENSP00000306261:T264M;ENSP00000447817:T35M	ENSP00000306261:T264M	T	-	2	0	KRT78	51524740	0.038000	0.19896	0.001000	0.08648	0.008000	0.06430	0.346000	0.19997	-0.385000	0.07833	0.563000	0.77884	ACG		0.622	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		15	77	0	0	0	1	0	15	77				
GSK3A	2931	broad.mit.edu	37	19	42736723	42736723	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr19:42736723C>A	ENST00000222330.3	-	9	1337	c.1210G>T	c.(1210-1212)Gat>Tat	p.D404Y	GSK3A_ENST00000398249.4_Missense_Mutation_p.D322Y	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	404					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.D404Y(2)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CGCAGTTCATCAAAGAAGCTG	0.602																																						ENST00000398249.4																			2	Substitution - Missense(2)	p.D404Y(2)	prostate(2)	endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(964-966)Gat>Tat		glycogen synthase kinase 3 alpha							76.0	72.0	73.0					19																	42736723		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42736723C>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1210G>T	19.37:g.42736723C>A	ENSP00000222330:p.Asp404Tyr					GSK3A_ENST00000222330.3_Missense_Mutation_p.D404Y	p.D322Y			P49840	GSK3A_HUMAN			8	2677	-		Prostate(69;0.00682)	404			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.964G>T	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400802	0.83120	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.42513	0.97;0.97	4.88	4.88	0.63580	Protein kinase-like domain (1);	0.063133	0.64402	D	0.000013	T	0.67126	0.2860	M	0.87682	2.9	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61722	0.893;0.863	T	0.74890	-0.3510	10	0.87932	D	0	-15.9283	17.1868	0.86868	0.0:1.0:0.0:0.0	.	404;322	P49840;A8MT37	GSK3A_HUMAN;.	Y	404;322;349	ENSP00000222330:D404Y;ENSP00000381301:D322Y	ENSP00000222330:D404Y	D	-	1	0	GSK3A	47428563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.447000	0.66606	2.453000	0.82957	0.561000	0.74099	GAT		0.602	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			3	72	1	0	1	1	1	3	72				
ZCCHC12	170261	broad.mit.edu	37	X	117959282	117959282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:117959282G>A	ENST00000310164.2	+	4	582	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	25					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M25I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CCCATTCCATGCTGAGGTCCC	0.572																																						ENST00000310164.2																			1	Substitution - Missense(1)	p.M25I(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(73-75)atG>atA		zinc finger, CCHC domain containing 12							75.0	66.0	69.0					X																	117959282		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959282G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.75G>A	X.37:g.117959282G>A	ENSP00000308921:p.Met25Ile						p.M25I	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	582	+			25					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.75G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	8.644	0.896655	0.17686	.	.	ENSG00000174460	ENST00000310164	T	0.08720	3.06	3.05	3.05	0.35203	.	0.000000	0.42548	D	0.000695	T	0.06416	0.0165	L	0.36672	1.1	0.29044	N	0.884948	B	0.06786	0.001	B	0.09377	0.004	T	0.18777	-1.0326	10	0.21014	T	0.42	-11.0261	8.7495	0.34607	0.0:0.0:1.0:0.0	.	25	Q6PEW1	ZCH12_HUMAN	I	25	ENSP00000308921:M25I	ENSP00000308921:M25I	M	+	3	0	ZCCHC12	117843310	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	2.403000	0.44530	1.792000	0.52537	0.529000	0.55759	ATG		0.572	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		25	46	0	0	0	1	0	25	46				
ADAMTS20	80070	broad.mit.edu	37	12	43777766	43777766	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:43777766A>G	ENST00000389420.3	-	30	4466	c.4467T>C	c.(4465-4467)tgT>tgC	p.C1489C		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1489	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1489C(2)|p.S1489S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCAGAGCCACAGGTCACAG	0.413																																						ENST00000389420.3																			3	Substitution - coding silent(3)	p.C1489C(2)|p.S1489S(1)	prostate(3)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4465-4467)tgT>tgC		ADAM metallopeptidase with thrombospondin type 1 motif, 20							69.0	59.0	62.0					12																	43777766		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777766A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4467T>C	12.37:g.43777766A>G							p.C1489C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	30	4466	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1489			TSP type-1 12.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.4467T>C	CCDS31778.2																																																																																				0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	56	0	0	0	1	0	4	56				
WRN	7486	broad.mit.edu	37	8	30958414	30958414	+	Silent	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr8:30958414G>A	ENST00000298139.5	+	18	2280	c.2031G>A	c.(2029-2031)ggG>ggA	p.G677G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	677	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGAGTGGGGGCATGATTTTA	0.408			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2029-2031)ggG>ggA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							99.0	91.0	94.0					8																	30958414		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30958414G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2031G>A	8.37:g.30958414G>A							p.G677G	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	18	2280	+		Breast(100;0.195)	677			Helicase ATP-binding.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.2031G>A	CCDS6082.1																																																																																				0.408	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			3	65	0	0	0	1	0	3	65				
TMEM246	84302	broad.mit.edu	37	9	104239189	104239189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:104239189G>T	ENST00000374851.1	-	4	1333	c.186C>A	c.(184-186)agC>agA	p.S62R	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	62						integral component of membrane (GO:0016021)		p.S62R(2)									GGAACTCTTGGCTCATTTGGT	0.547																																						ENST00000374851.1																			2	Substitution - Missense(2)	p.S62R(2)	prostate(2)								c.(184-186)agC>agA		transmembrane protein 246							74.0	75.0	75.0					9																	104239189		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239189G>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.186C>A	9.37:g.104239189G>T	ENSP00000363984:p.Ser62Arg					TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000424154.1_RNA	p.S62R			Q9BRR3	CI125_HUMAN			4	1333	-			62					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.186C>A	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	g	16.10	3.026476	0.54683	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	0.606	0.17559	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.48642	1.525	0.47698	D	0.999499	P	0.46142	0.873	B	0.40066	0.318	T	0.16100	-1.0414	9	0.19147	T	0.46	-19.8232	9.2417	0.37500	0.4266:0.0:0.5734:0.0	.	62	Q9BRR3	CI125_HUMAN	R	62	.	ENSP00000363980:S62R	S	-	3	2	C9orf125	103279010	0.997000	0.39634	0.995000	0.50966	0.999000	0.98932	0.390000	0.20768	-0.158000	0.11040	0.645000	0.84053	AGC		0.547	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		30	91	1	0	1.75199e-13	1	1.93168e-13	30	91				
LINC00518	221718	broad.mit.edu	37	6	10430010	10430010	+	lincRNA	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:10430010G>A	ENST00000496285.1	-	0	1025					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518																		GTAGAGGCTAGAACTGGAATT	0.368											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000496285.1																			0																																																			0							g.chr6:10430010G>A	BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430010G>A			OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	664			NR_027793.1						0	1025	-									RNA	SNP	ENST00000496285.1	37																																																																																						0.368	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1	NR_027793		6	18	0	0	0	1	0	6	18				
FAM47B	170062	broad.mit.edu	37	X	34962848	34962848	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:34962848T>C	ENST00000329357.5	+	1	1936	c.1900T>C	c.(1900-1902)Tac>Cac	p.Y634H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	634										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTTTACAAGTACAAAGAAGA	0.388																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1900-1902)Tac>Cac		family with sequence similarity 47, member B							123.0	111.0	115.0					X																	34962848		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962848T>C	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1900T>C	X.37:g.34962848T>C	ENSP00000328307:p.Tyr634His						p.Y634H	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1936	+			634					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1900T>C	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	T	7.834	0.720460	0.15372	.	.	ENSG00000189132	ENST00000329357	T	0.15487	2.42	0.843	-0.427	0.12310	.	.	.	.	.	T	0.35508	0.0934	M	0.73598	2.24	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11690	-1.0577	8	0.66056	D	0.02	.	.	.	.	.	634	Q8NA70	FA47B_HUMAN	H	634	ENSP00000328307:Y634H	ENSP00000328307:Y634H	Y	+	1	0	FAM47B	34872769	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.309000	0.19332	-0.204000	0.10235	0.242000	0.17961	TAC		0.388	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		3	179	0	0	0	1	0	3	179				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	33	0	0	0	1	0	3	33				
CCDC7	79741	broad.mit.edu	37	10	32856778	32856778	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856778G>A	ENST00000362006.5	+	16	1921	c.1378G>A	c.(1378-1380)Ggt>Agt	p.G460S	C10orf68_ENST00000375028.3_De_novo_Start_OutOfFrame|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460S(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTCAGATTCAGGTGGACAAAG	0.328																																						ENST00000375028.3																			1	Substitution - Missense(1)	p.G460S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29								chromosome 10 open reading frame 68							77.0	77.0	77.0					10																	32856778		2203	4299	6502	SO:0001583	missense	79741							g.chr10:32856778G>A	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1378G>A	10.37:g.32856778G>A	ENSP00000355078:p.Gly460Ser					C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S|C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S				Q9H943	CJ068_HUMAN			0	15	+								Q5VW55|Q8IVQ0|Q8NEQ0	Translation_Start_Site	SNP	ENST00000362006.5	37		CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279800	0.40294	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.59906	1.14;1.14;0.23	4.3	-0.844	0.10741	.	.	.	.	.	T	0.35008	0.0917	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.40940	0.344	T	0.18840	-1.0324	9	0.26408	T	0.33	-4.4983	3.2962	0.06966	0.4132:0.0:0.4031:0.1837	.	460	Q96M83	CCDC7_HUMAN	S	460;460;129	ENSP00000277657:G460S;ENSP00000355078:G460S;ENSP00000401923:G129S	ENSP00000277657:G460S	G	+	1	0	CCDC7	32896784	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.733000	0.04898	-0.057000	0.13199	0.650000	0.86243	GGT		0.328	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		9	89	0	0	0	1	0	9	89				
CIT	11113	broad.mit.edu	37	12	120150460	120150460	+	Silent	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120150460G>T	ENST00000261833.7	-	35	4546	c.4494C>A	c.(4492-4494)ccC>ccA	p.P1498P	CIT_ENST00000392521.2_Silent_p.P1540P|CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1498	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P1526P(1)|p.P1498P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CATCCCCGTCGGGAAGGCACA	0.547																																						ENST00000392521.2																			2	Substitution - coding silent(2)	p.P1526P(1)|p.P1498P(1)	prostate(2)	breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(4618-4620)ccC>ccA		citron (rho-interacting, serine/threonine kinase 21)							71.0	67.0	69.0					12																	120150460		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120150460G>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4494C>A	12.37:g.120150460G>T						CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.P1498P	p.P1540P	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	36	4675	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1498			PH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.4620C>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	7.617	0.676070	0.14841	.	.	ENSG00000122966	ENST00000392520	T	0.09723	2.95	5.92	1.52	0.23074	.	0.062043	0.64402	D	0.000004	T	0.12305	0.0299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10451	-1.0629	7	0.36615	T	0.2	.	5.0256	0.14383	0.4227:0.0:0.4396:0.1377	.	.	.	.	Q	1111	ENSP00000376305:P1111Q	ENSP00000376305:P1111Q	P	-	2	0	CIT	118634843	0.705000	0.27846	1.000000	0.80357	0.987000	0.75469	-0.071000	0.11505	0.394000	0.25230	-0.137000	0.14449	CCG		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		4	113	1	0	1	1	1	4	113				
TEKT1	83659	broad.mit.edu	37	17	6716186	6716186	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr17:6716186C>G	ENST00000338694.2	-	6	945	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	272						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.K272N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCCTGGCATCCTTTGTATCCT	0.527																																						ENST00000338694.2																			1	Substitution - Missense(1)	p.K272N(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(814-816)aaG>aaC		tektin 1							219.0	178.0	192.0					17																	6716186		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6716186C>G		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.816G>C	17.37:g.6716186C>G	ENSP00000341346:p.Lys272Asn					TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	p.K272N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			6	945	-		Myeloproliferative disorder(207;0.0255)	272					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.816G>C	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949129	0.34377	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02709	4.19;4.19	4.79	-0.0725	0.13739	.	0.049910	0.85682	D	0.000000	T	0.04182	0.0116	M	0.61703	1.905	0.44409	D	0.997322	B	0.20988	0.05	B	0.32762	0.152	T	0.34403	-0.9830	10	0.37606	T	0.19	.	6.7215	0.23332	0.0:0.4279:0.0:0.5721	.	272	Q969V4	TEKT1_HUMAN	N	272;126	ENSP00000341346:K272N;ENSP00000444142:K126N	ENSP00000341346:K272N	K	-	3	2	TEKT1	6656910	0.993000	0.37304	0.979000	0.43373	0.521000	0.34408	0.302000	0.19192	0.197000	0.20387	-0.191000	0.12829	AAG		0.527	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		32	158	0	0	0	1	0	32	158				
COL11A2	1302	broad.mit.edu	37	6	33138676	33138676	+	Missense_Mutation	SNP	C	C	T	rs550153707		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:33138676C>T	ENST00000374708.4	-	44	3385	c.3127G>A	c.(3127-3129)Gga>Aga	p.G1043R	COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1129R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1129	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1129R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAGCTCCGGGCTCCCCA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17441	0.0		0.001	False		,,,				2504	0.0				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			1	Substitution - Missense(1)	p.G1129R(1)	prostate(1)	biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3385-3387)Gga>Aga		collagen, type XI, alpha 2							68.0	75.0	72.0					6																	33138676		1510	2709	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33138676C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3127G>A	6.37:g.33138676C>T	ENSP00000363840:p.Gly1043Arg					COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R	p.G1129R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			46	3612	-			1129	EPGARGP -> GAGGLGT (in Ref. 6; AAA52034).		Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3385G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366271	0.61513	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99353	-5.53;-5.53;-5.77;-5.77;-5.77;-5.53;-5.77;-5.77	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	D	0.99667	0.9876	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97512	1.0067	10	0.87932	D	0	.	15.5206	0.75862	0.0:1.0:0.0:0.0	.	1022;1043;1129	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	1043;1129;1108;1103;1082;1069;1048;1022	ENSP00000363840:G1043R;ENSP00000339915:G1129R;ENSP00000350079:G1108R;ENSP00000363846:G1103R;ENSP00000363845:G1082R;ENSP00000378623:G1069R;ENSP00000363844:G1048R;ENSP00000355123:G1022R	ENSP00000339915:G1129R	G	-	1	0	COL11A2	33246654	1.000000	0.71417	0.985000	0.45067	0.842000	0.47809	7.266000	0.78452	2.510000	0.84645	0.551000	0.68910	GGA		0.577	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			8	141	0	0	0	1	0	8	141				
SHANK2	22941	broad.mit.edu	37	11	70319095	70319095	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:70319095T>C	ENST00000423696.2	-	16	4328	c.4292A>G	c.(4291-4293)aAt>aGt	p.N1431S	SHANK2_ENST00000338508.4_Missense_Mutation_p.N1811S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1431	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.N1811S(1)|p.N1215S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCGATCTCATTGTCCATGAA	0.478																																						ENST00000338508.4																			2	Substitution - Missense(2)	p.N1811S(1)|p.N1215S(1)	prostate(2)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5431-5433)aAt>aGt		SH3 and multiple ankyrin repeat domains 2							189.0	181.0	183.0					11																	70319095		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319095T>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4292A>G	11.37:g.70319095T>C	ENSP00000394536:p.Asn1431Ser					SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S	p.N1811S			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5431	-			1431					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5432A>G		.	.	.	.	.	.	.	.	.	.	T	25.5	4.648919	0.87958	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	6.03	6.03	0.97812	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.083787	0.85682	N	0.000000	T	0.68183	0.2973	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.997	T	0.70612	-0.4824	10	0.72032	D	0.01	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1431;1810;1215	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	1215;1214;1089;1811;1431;1449;1434	ENSP00000399423:N1215S;ENSP00000386491:N1214S;ENSP00000402944:N1089S;ENSP00000345193:N1811S;ENSP00000394536:N1431S;ENSP00000294018:N1434S	ENSP00000294018:N1434S	N	-	2	0	SHANK2	69996743	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.807000	0.86032	2.308000	0.77769	0.533000	0.62120	AAT		0.478	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		55	245	0	0	0	1	0	55	245				
CARD16	114769	broad.mit.edu	37	11	104915235	104915235	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:104915235T>G	ENST00000375706.2	-	2	175	c.158A>C	c.(157-159)aAg>aCg	p.K53T	CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	53	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.K53T(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						AGCTCGGGTCTTATCCATAAC	0.428																																						ENST00000375706.2																			1	Substitution - Missense(1)	p.K53T(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(157-159)aAg>aCg		caspase recruitment domain family, member 16							227.0	209.0	215.0					11																	104915235		2202	4297	6499	SO:0001583	missense	114769							g.chr11:104915235T>G		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.158A>C	11.37:g.104915235T>G	ENSP00000364858:p.Lys53Thr					CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron	p.K53T	NM_001017534.1	NP_001017534.1					2	175	-								Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.158A>C	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.367899	0.42003	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374;ENST00000528513	T;T;T;T	0.54279	1.97;1.97;1.97;0.58	3.34	0.76	0.18442	DEATH-like (2);Caspase Recruitment (3);	0.540327	0.20413	U	0.092822	T	0.68366	0.2993	M	0.88310	2.945	0.09310	N	1	D;D	0.76494	0.999;0.995	D;D	0.74348	0.983;0.951	T	0.58014	-0.7711	10	0.72032	D	0.01	.	2.5546	0.04756	0.2313:0.1353:0.0:0.6334	.	53;53	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	T	53;53;53;37	ENSP00000364858:K53T;ENSP00000364856:K53T;ENSP00000433700:K53T;ENSP00000432485:K37T	ENSP00000364856:K53T	K	-	2	0	CARD16	104420445	0.083000	0.21467	0.109000	0.21407	0.072000	0.16883	0.661000	0.25023	0.027000	0.15297	0.397000	0.26171	AAG		0.428	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			96	447	0	0	0	1	0	96	447				
KIAA1109	84162	broad.mit.edu	37	4	123274248	123274248	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr4:123274248T>C	ENST00000264501.4	+	81	14412	c.14039T>C	c.(14038-14040)cTt>cCt	p.L4680P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L4680P			Q2LD37	K1109_HUMAN	KIAA1109	4680					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTTGGGCCCTTTTTCATTTA	0.373																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14038-14040)cTt>cCt		KIAA1109							90.0	83.0	85.0					4																	123274248		1832	4082	5914	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123274248T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14039T>C	4.37:g.123274248T>C	ENSP00000264501:p.Leu4680Pro					KIAA1109_ENST00000388738.3_Missense_Mutation_p.L4680P	p.L4680P			Q2LD37	K1109_HUMAN			81	14412	+			4680					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14039T>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.966302|3.966302	0.74131|0.74131	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.57436	.|0.4;0.4;0.4	5.83|5.83	4.66|4.66	0.58398|0.58398	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52725|0.52725	0.1752|0.1752	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18013	.|0.015;0.025	.|B;B	.|0.20184	.|0.011;0.028	T|T	0.53358|0.53358	-0.8450|-0.8450	5|10	.|0.87932	.|D	.|0	.|.	11.6639|11.6639	0.51363|0.51363	0.0:0.069:0.0:0.931|0.0:0.069:0.0:0.931	.|.	.|4679;4680	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	L|P	1056|4680;4680;1349;281	.|ENSP00000264501:L4680P;ENSP00000373390:L4680P;ENSP00000410874:L1349P	.|ENSP00000264501:L4680P	F|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123493698|123493698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.295000|6.295000	0.72744|0.72744	1.053000|1.053000	0.40415|0.40415	0.477000|0.477000	0.44152|0.44152	TTT|CTT		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		3	182	0	0	0	1	0	3	182				
FREM2	341640	broad.mit.edu	37	13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A	rs548177107		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1893I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		15518	0.001		0.0	False		,,,				2504	0.0					ENST00000280481.7																			1	Substitution - Missense(1)	p.V1893I(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5677-5679)Gtt>Att		FRAS1 related extracellular matrix protein 2							205.0	195.0	198.0					13																	39357242		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39357242G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5677G>A	13.37:g.39357242G>A	ENSP00000280481:p.Val1893Ile						p.V1893I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	5	5893	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1893			Calx-beta 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5677G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239314	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.98	-3.55	0.04639	Na-Ca exchanger/integrin-beta4 (2);	0.362015	0.30920	N	0.008612	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32455	-0.9906	10	0.06757	T	0.87	.	14.9111	0.70758	0.439:0.0:0.561:0.0	.	1893	Q5SZK8	FREM2_HUMAN	I	1893	ENSP00000280481:V1893I	ENSP00000280481:V1893I	V	+	1	0	FREM2	38255242	0.001000	0.12720	0.068000	0.19968	0.823000	0.46562	0.130000	0.15850	-0.977000	0.03537	-0.439000	0.05793	GTT		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		58	205	0	0	0	1	0	58	205				
FAM47C	442444	broad.mit.edu	37	X	37027785	37027785	+	Silent	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:37027785C>T	ENST00000358047.3	+	1	1354	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	434								p.R434R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCGCGGATCTCATC	0.617																																						ENST00000358047.3																			2	Substitution - coding silent(2)	p.R434R(2)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1300-1302)cgC>cgT		family with sequence similarity 47, member C							60.0	59.0	60.0					X																	37027785		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027785C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1302C>T	X.37:g.37027785C>T							p.R434R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1354	+			434					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1302C>T	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		28	33	0	0	0	1	0	28	33				
ANXA6	309	broad.mit.edu	37	5	150509002	150509002	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr5:150509002G>T	ENST00000354546.5	-	12	1111	c.884C>A	c.(883-885)aCc>aAc	p.T295N	ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	295					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATACTTGGTCCGGAAGAT	0.557																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(883-885)aCc>aAc		annexin A6							69.0	67.0	68.0					5																	150509002		2004	4179	6183	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150509002G>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.884C>A	5.37:g.150509002G>T	ENSP00000346550:p.Thr295Asn					ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N|ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N	p.T295N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1111	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	295					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.884C>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533876	0.64972	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	4.95	4.95	0.65309	Annexin repeat, conserved site (1);	0.225312	0.47455	D	0.000238	T	0.07773	0.0195	N	0.24115	0.695	0.48288	D	0.99962	P;B;B	0.48294	0.908;0.277;0.173	P;B;B	0.55667	0.781;0.352;0.352	T	0.45101	-0.9284	10	0.42905	T	0.14	.	16.9665	0.86287	0.0:0.0:1.0:0.0	.	88;295;295	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	N	295;263;295;88;169	ENSP00000346550:T295N;ENSP00000430517:T263N;ENSP00000348889:T295N;ENSP00000430420:T88N	ENSP00000346550:T295N	T	-	2	0	ANXA6	150489195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.634000	0.54302	2.300000	0.77407	0.511000	0.50034	ACC		0.557	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		7	54	1	0	2.0095e-06	1	2.10752e-06	7	54				
NEK7	140609	broad.mit.edu	37	1	198233329	198233329	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:198233329A>G	ENST00000367385.4	+	5	678	c.336A>G	c.(334-336)gaA>gaG	p.E112E	NEK7_ENST00000538004.1_Silent_p.E112E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E112E(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TAGTTTTGGAACTAGCAGATG	0.299																																						ENST00000367385.4																			1	Substitution - coding silent(1)	p.E112E(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(334-336)gaA>gaG		NIMA-related kinase 7							93.0	102.0	99.0					1																	198233329		2203	4298	6501	SO:0001819	synonymous_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198233329A>G	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.336A>G	1.37:g.198233329A>G						NEK7_ENST00000538004.1_Silent_p.E112E	p.E112E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN			5	678	+			112			Protein kinase.		A6NGT8	Silent	SNP	ENST00000367385.4	37	c.336A>G	CCDS1394.1																																																																																				0.299	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		25	201	0	0	0	1	0	25	201				
FBXO18	84893	broad.mit.edu	37	10	5979235	5979235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:5979235G>A	ENST00000362091.4	+	21	3239	c.3124G>A	c.(3124-3126)Gtc>Atc	p.V1042I	FBXO18_ENST00000397269.3_Missense_Mutation_p.V546I|FBXO18_ENST00000379999.5_Missense_Mutation_p.V1093I|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1042					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.V1093I(2)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTCTTCCTCGTCTTCTGAGG	0.657																																						ENST00000379999.5																			2	Substitution - Missense(2)	p.V1093I(2)	prostate(1)|lung(1)	NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(3277-3279)Gtc>Atc		F-box protein, helicase, 18							22.0	20.0	21.0					10																	5979235		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5979235G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3124G>A	10.37:g.5979235G>A	ENSP00000355415:p.Val1042Ile					FBXO18_ENST00000379994.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.V1042I|FBXO18_ENST00000397269.3_Missense_Mutation_p.V546I|RP11-536K7.3_ENST00000397264.3_RNA	p.V1093I	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			22	3381	+			1042					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.3277G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	16.33	3.092533	0.56075	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.21	4.3	0.51218	.	0.246394	0.33650	N	0.004692	T	0.17109	0.0411	N	0.12182	0.205	0.27198	N	0.960244	B;B;B	0.33379	0.41;0.287;0.287	B;B;B	0.20577	0.03;0.013;0.013	T	0.10706	-1.0618	9	0.32370	T	0.25	-25.1536	10.4447	0.44486	0.0914:0.0:0.9085:0.0	.	1093;1042;968	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	I	546;1042;1093	.	ENSP00000355415:V1042I	V	+	1	0	FBXO18	6019241	0.970000	0.33590	0.993000	0.49108	0.944000	0.59088	1.742000	0.38248	2.454000	0.82982	0.531000	0.56144	GTC		0.657	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		3	22	0	0	0	1	0	3	22				
SLC22A15	55356	broad.mit.edu	37	1	116574076	116574076	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:116574076G>A	ENST00000369503.4	+	6	948	c.818G>A	c.(817-819)cGc>cAc	p.R273H	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	273					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AAGAGGAACCGCAAACTCAAG	0.512																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(817-819)cGc>cAc		solute carrier family 22, member 15							116.0	118.0	117.0					1																	116574076		2002	4169	6171	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116574076G>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.818G>A	1.37:g.116574076G>A	ENSP00000358515:p.Arg273His					SLC22A15_ENST00000369502.1_3'UTR	p.R273H	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	948	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	273					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.818G>A	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698581	0.68386	.	.	ENSG00000163393	ENST00000369503	T	0.59772	0.24	4.91	3.04	0.35103	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.219105	0.48286	N	0.000194	T	0.60457	0.2270	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.64546	-0.6382	10	0.66056	D	0.02	.	11.1494	0.48449	0.1497:0.0:0.8503:0.0	.	273	Q8IZD6	S22AF_HUMAN	H	273	ENSP00000358515:R273H	ENSP00000358515:R273H	R	+	2	0	SLC22A15	116375599	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.112000	0.64634	0.665000	0.31066	0.655000	0.94253	CGC		0.512	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		4	163	0	0	0	1	0	4	163				
ATXN7	6314	broad.mit.edu	37	3	63898514	63898514	+	Silent	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:63898514G>A	ENST00000295900.6	+	3	790	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ATXN7_ENST00000538065.1_Silent_p.E80E|ATXN7_ENST00000487717.1_Silent_p.E80E|ATXN7_ENST00000398590.3_Silent_p.E80E	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	80					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E80E(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTCGGGGAGCGCAGGCCTC	0.711																																						ENST00000398590.3																			2	Substitution - coding silent(2)	p.E80E(2)	prostate(2)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(238-240)gaG>gaA		ataxin 7							45.0	48.0	47.0					3																	63898514		1942	4128	6070	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63898514G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.240G>A	3.37:g.63898514G>A						ATXN7_ENST00000487717.1_Silent_p.E80E|ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E	p.E80E	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	3	793	+		Prostate(884;0.0181)	80					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.240G>A	CCDS43102.1																																																																																				0.711	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		6	29	0	0	0	1	0	6	29				
BTN2A3P	54718	broad.mit.edu	37	6	26428149	26428149	+	RNA	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:26428149A>G	ENST00000466808.2	+	0	1118							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.M253V(1)									GCCTGTTATCATGATTATTCT	0.428																																						ENST00000466808.2																			1	Substitution - Missense(1)	p.M253V(1)	prostate(1)																	179.0	166.0	170.0					6																	26428149		2203	4300	6503			0							g.chr6:26428149A>G	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26428149A>G														0	1118	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.428	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		67	236	0	0	0	1	0	67	236				
RPLP0	6175	broad.mit.edu	37	12	120635152	120635152	+	Silent	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120635152C>T	ENST00000551150.1	-	6	1080	c.765G>A	c.(763-765)acG>acA	p.T255T	RPLP0_ENST00000392514.4_Silent_p.T255T|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000552292.1_Silent_p.T45T|RPLP0_ENST00000313104.5_Silent_p.T193T|RPLP0_ENST00000546989.1_Silent_p.T219T|RPLP0_ENST00000228306.4_Silent_p.T255T|GCN1L1_ENST00000300648.6_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	255					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.T255T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGTAATCCGTCTCCACAG	0.507																																						ENST00000551150.1																			2	Substitution - coding silent(2)	p.T255T(2)	prostate(1)|lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(763-765)acG>acA		ribosomal protein, large, P0							95.0	78.0	84.0					12																	120635152		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120635152C>T	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.765G>A	12.37:g.120635152C>T						RPLP0_ENST00000392514.4_Silent_p.T255T|RPLP0_ENST00000546989.1_Silent_p.T219T|RPLP0_ENST00000552292.1_Silent_p.T45T|RPLP0_ENST00000313104.5_Silent_p.T193T|RPLP0_ENST00000228306.4_Silent_p.T255T	p.T255T			P05388	RLA0_HUMAN			6	1080	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		255					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.765G>A	CCDS9193.1																																																																																				0.507	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		17	79	0	0	0	1	0	17	79				
PROX1-AS1	100505832	broad.mit.edu	37	1	214058323	214058324	+	RNA	INS	-	-	CACG			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:214058323_214058324insCACG	ENST00000433082.2	-	0	401				PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000598105.1_RNA					PROX1 antisense RNA 1																		acacatgcacacacacacacac	0.441																																						ENST00000433082.2																			0																																																			0							g.chr1:214058323_214058324insCACG	AK092251		1q32.3	2012-10-12	2012-08-15		ENSG00000230461	ENSG00000230461		"""Long non-coding RNAs"""	43656	non-coding RNA	RNA, long non-coding			"""PROX1 antisense RNA 1 (non-protein coding)"""				Standard	XR_248694		Approved				OTTHUMG00000036947		1.37:g.214058323_214058324insCACG						PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000598105.1_RNA								0	401	-									RNA	INS	ENST00000433082.2	37																																																																																						0.441	PROX1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000089728.2	NR_037850		2	4						2	4	---	---	---	---
LINC00882	100302640	broad.mit.edu	37	3	106824708	106824709	+	lincRNA	DEL	TC	TC	-	rs57565986	byFrequency	TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:106824708_106824709delTC	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		TGtttttatatctttttttttt	0.441																																						ENST00000484698.1																			0																																																			0							g.chr3:106824708_106824709delTC			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106824708_106824709delTC														0	295	-									RNA	DEL	ENST00000484698.1	37																																																																																						0.441	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			2	4						2	4	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup					RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	p.49_50GR>GAAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		3	4						3	4	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	71003062	71003063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:71003062_71003063insG	ENST00000261266.5	-	2	140_141	c.111_112insC	c.(109-114)tccagcfs	p.S38fs	PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S38fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S38fs|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.S256fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S38fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S256fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.S255fs|PTPRB_ENST00000538174.2_5'UTR	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	38	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGAATGGCTGGAGGCCTTGG	0.535																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(763-768)tcgccafs		protein tyrosine phosphatase, receptor type, B			,,,	12,3644		1,10,1817					,,,	4.9	1.0			60	19,7853		0,19,3917	no	frameshift,frameshift,frameshift,frameshift	PTPRB	NM_002837.4,NM_001206972.1,NM_001206971.1,NM_001109754.2	,,,	1,29,5734	A1A1,A1R,RR		0.2414,0.3282,0.2689	,,,	,,,		31,11497				SO:0001589	frameshift_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71003062_71003063insG	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.112dupC	12.37:g.71003064_71003064dupG	ENSP00000261266:p.Ser38fs					PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.P255fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.P256fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000538174.2_5'UTR	p.P256fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		4	809_810	-	Renal(347;0.236)		38			Fibronectin type-III 3.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Ins	INS	ENST00000261266.5	37	c.765_766insC	CCDS44944.1																																																																																				0.535	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			7	150						7	150	---	---	---	---
GNPNAT1	64841	broad.mit.edu	37	14	53245162	53245163	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:53245162_53245163delAG	ENST00000216410.3	-	6	608_609	c.421_422delCT	c.(421-423)cttfs	p.L141fs	RP11-589M4.1_ENST00000555689.1_RNA|GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs|RP11-589M4.1_ENST00000555969.1_RNA|GNPNAT1_ENST00000554421.1_5'Flank	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	141	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TAGCAAAGTAAGGGTTGATAAT	0.292																																						ENST00000216410.3																			0				liver(1)|lung(1)|prostate(1)|skin(1)	4						c.(421-423)tfs		glucosamine-phosphate N-acetyltransferase 1																																				SO:0001589	frameshift_variant	0				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53245162_53245163delAG	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.421_422delCT	14.37:g.53245162_53245163delAG	ENSP00000216410:p.Leu141fs					GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs	p.L141fs	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN			6	608_609	-	Breast(41;0.176)		141			N-acetyltransferase.			Frame_Shift_Del	DEL	ENST00000216410.3	37	c.421_422delCT	CCDS9712.1																																																																																				0.292	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			24	130						24	130	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703996	+	lincRNA	DEL	TT	TT	-	rs538078281|rs559860539|rs34190287|rs66639120	byFrequency	TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr19:53703995_53703996delTT	ENST00000597550.1	+	0	232																											TGTTTCCCCCtttttttttttt	0.475																																						ENST00000597550.1																			0																																																			0							g.chr19:53703995_53703996delTT																													19.37:g.53704005_53704006delTT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.475	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			2	4						2	4	---	---	---	---
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802|rs201945957|rs66539476|rs200974781|rs574686543	byFrequency	TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000421572.1	+	0	404				DGCR5_ENST00000438934.1_RNA|DGCR5_ENST00000399539.3_RNA|DGCR5_ENST00000440005.2_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411														1731	0.345647	0.7247	0.1945	5008	,	,		12365	0.2004		0.2217	False		,,,				2504	0.2178					ENST00000438934.1																			0																																																			0							g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18976301_18976324delTATTTATTTATTTATTTATTTATT						DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA								0	394	+									RNA	DEL	ENST00000421572.1	37																																																																																						0.411	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		5	4						5	4	---	---	---	---
