#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
CSNK1A1L	122011	broad.mit.edu	37	13	37679303	37679303	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:37679303C>T	ENST00000379800.3	-	1	500	c.91G>A	c.(91-93)Gtt>Att	p.V31I		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCCAGATAAACGTCTCCAAAG	0.537																																						ENST00000379800.3											0			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(91-93)Gtt>Att	casein kinase 1, alpha 1-like						139.0	127.0	131.0					13																	37679303		2203	4300	6503	SO:0001583	missense	122011			Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679303C>T	BC028723	BC028723	CCDS9363.1	CCDS9363.1	13q13.2	2008-02-05			2008-02-05			ENSG00000180138	ENSG00000180138	ENSG00000180138	ENSG00000180138				20289	20289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_145203	NM_145203		Approved	MGC33182	uc001uwm.1	uc001uwm.1	Q8N752	Q8N752	OTTHUMG00000016748	OTTHUMG00000016748	ENST00000379800.3:c.91G>A	13.37:g.37679303C>T	ENSP00000369126:p.Val31Ile			p.V31I	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	500	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	31	Protein kinase.	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.91G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.140119	0.01728	.	.	ENSG00000180138	ENST00000379800	T	0.80824	-1.42	0.778	0.778	0.18543	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055899	0.64402	N	0.000002	T	0.43590	0.1254	N	0.01431	-0.87	0.29898	N	0.824643	B	0.09022	0.002	B	0.11329	0.006	T	0.46414	-0.9193	10	0.02654	T	1	.	3.0398	0.06134	0.0:0.6793:0.0:0.3206	.	31	Q8N752	KC1AL_HUMAN	I	31	ENSP00000369126:V31I	ENSP00000369126:V31I	V	-	1	0	0	CSNK1A1L	36577303	36577303	1.000000	0.71417	0.488000	0.27440	0.808000	0.45660	2.847000	0.48270	0.686000	0.31488	0.561000	0.74099	GTT		0.537	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1		-11.641275	-12	-12	76	76	NM_145203		3	6.312662	6.312662	75	0.038462	0	0	0	1	0	3	75	0.038462
ARSI	340075	broad.mit.edu	37	5	149677696	149677696	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:149677696G>A	ENST00000328668.7	-	2	1370	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCATGGCCGCGTACTTCCG	0.587																																						ENST00000328668.7											0			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(790-792)gCg>gTg	arylsulfatase family, member I						45.0	40.0	42.0					5																	149677696		2203	4300	6503	SO:0001583	missense	340075				endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677696G>A	AY875937	AY875937	CCDS34275.1	CCDS34275.1	5q32	2014-03-03	2006-03-07		2014-03-03	2006-03-07			ENSG00000183876		ENSG00000183876		"""Arylsulfatase family"""	"""Arylsulfatase family"""	32521	32521	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610009	610009	"""arylsulfatase I"""		"""arylsulfatase I"""			16174644, 24482476	16174644, 24482476	Standard	Standard	NM_001012301	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	uc003lrv.2	Q5FYB1	Q5FYB1			ENST00000328668.7:c.791C>T	5.37:g.149677696G>A	ENSP00000333395:p.Ala264Val			p.A264V	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1370	-			264		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.791C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764814	0.90020	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96856	-4.15;-4.15	4.46	4.46	0.54185	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99116	1.0848	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	264	Q5FYB1	ARSI_HUMAN	V	264;121	ENSP00000333395:A264V;ENSP00000426879:A121V	ENSP00000333395:A264V	A	-	2	0	0	ARSI	149657889	149657889	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	9.591000	0.98241	2.460000	0.83146	0.561000	0.74099	GCG		0.587	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1		2.004453	4	4	39	39	NM_001012301		3	6.545151	6.545151	26	0.103448	0	0	0	1	0	3	26	0.103448
LRRC49	54839	broad.mit.edu	37	15	71193327	71193327	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:71193327A>C	ENST00000260382.5	+	4	520	c.260A>C	c.(259-261)gAg>gCg	p.E87A	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E77A|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.E92A|LRRC49_ENST00000443425.2_Missense_Mutation_p.E43A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	87						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCTTCTGAAGAGAAAATTCTT	0.313																																						ENST00000260382.5											0			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(259-261)gAg>gCg	leucine rich repeat containing 49						80.0	83.0	82.0					15																	71193327		2199	4295	6494	SO:0001583	missense	54839				cytoplasm|microtubule		g.chr15:71193327A>C			CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09			2005-08-09				ENSG00000137821		ENSG00000137821				25965	25965	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_001199017	NM_001199017		Approved	FLJ20156	uc010ukf.2	uc010ukf.2	Q8IUZ0	Q8IUZ0			ENST00000260382.5:c.260A>C	15.37:g.71193327A>C	ENSP00000260382:p.Glu87Ala		LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E77A|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.E92A|LRRC49_ENST00000443425.2_Missense_Mutation_p.E43A	p.E87A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			4	520	+			87		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.260A>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388005	0.61956	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.37752	1.18;1.9;1.9	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.198988	0.35870	N	0.002921	T	0.31420	0.0796	L	0.32530	0.975	0.39912	D	0.974043	P;P;P;P;P	0.44478	0.836;0.831;0.492;0.741;0.814	B;B;B;B;B	0.42882	0.238;0.401;0.276;0.143;0.287	T	0.09574	-1.0668	10	0.39692	T	0.17	-24.9529	12.9413	0.58345	1.0:0.0:0.0:0.0	.	92;59;43;87;77	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	A	77;87;43;59	ENSP00000439600:E77A;ENSP00000260382:E87A;ENSP00000414065:E43A	ENSP00000260382:E87A	E	+	2	0	0	LRRC49	68980381	68980381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.952000	0.70282	2.367000	0.80283	0.528000	0.53228	GAG		0.313	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3		46.315344	-7	-7	117	117	NM_017691		15	46.418548	46.418548	19	0.441176	0	0	0	1	0	15	19	0.441176
COL4A2	1284	broad.mit.edu	37	13	111098204	111098204	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:111098204G>C	ENST00000360467.5	+	17	1292	c.986G>C	c.(985-987)gGg>gCg	p.G329A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	329	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTATCAAGGGCCTGATGGA	0.512																																						ENST00000360467.5											0			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(985-987)gGg>gCg	collagen, type IV, alpha 2						106.0	110.0	108.0					13																	111098204		1926	4122	6048	SO:0001583	missense	1284			angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111098204G>C	AK025912	AK025912	CCDS41907.1	CCDS41907.1	13q34	2013-09-05			2013-09-05			ENSG00000134871	ENSG00000134871	ENSG00000134871	ENSG00000134871		"""Collagens"""	"""Collagens"""	2203	2203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	"""canstatin"", ""collagen type IV alpha 2"""	120090	120090						2439508, 3025878	2439508, 3025878	Standard	Standard	NM_001846	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	uc001vqx.3	P08572	P08572	OTTHUMG00000017344	OTTHUMG00000017344	ENST00000360467.5:c.986G>C	13.37:g.111098204G>C	ENSP00000353654:p.Gly329Ala			p.G329A	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		17	1292	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	329	Triple-helical region.	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.986G>C	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289460	0.40494	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99329	-5.75	3.74	3.74	0.42951	3.74	3.74	0.42951	.	0.122377	0.36591	N	0.002507	D	0.99489	0.9818	M	0.94142	3.5	0.44117	D	0.996898	D	0.76494	0.999	D	0.91635	0.999	D	0.98095	1.0411	10	0.62326	D	0.03	.	11.36	0.49638	0.0:0.0:1.0:0.0	.	329	P08572	CO4A2_HUMAN	A	329	ENSP00000353654:G329A	ENSP00000257309:G329A	G	+	2	0	0	COL4A2	109896205	109896205	0.992000	0.36948	0.435000	0.26784	0.391000	0.30476	3.423000	0.52756	2.376000	0.81061	0.643000	0.83706	GGG		0.512	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		114.253508	-22	-22	96	96	NM_001846		37	114.619824	114.619824	49	0.430233	0	0	0	1	0	37	49	0.430233
DSG1	1828	broad.mit.edu	37	18	28913603	28913603	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr18:28913603G>A	ENST00000257192.4	+	7	948	c.736G>A	c.(736-738)Gca>Aca	p.A246T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGATGGCGGGGCAGATGGCAT	0.428																																						ENST00000257192.4											0			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(736-738)Gca>Aca	desmoglein 1						144.0	130.0	135.0					18																	28913603		2203	4300	6503	SO:0001583	missense	1828			calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28913603G>A	X56654	X56654	CCDS11896.1	CCDS11896.1	18q12.1	2014-05-13			2014-05-13			ENSG00000134760	ENSG00000134760	ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	"""Cadherins / Major cadherins"""	3048	3048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			125670	125670		DSG		DSG		1889810	1889810	Standard	Standard	NM_001942	NM_001942		Approved	CDHF4	uc002kwp.3	uc002kwp.3	Q02413	Q02413	OTTHUMG00000131983	OTTHUMG00000131983	ENST00000257192.4:c.736G>A	18.37:g.28913603G>A	ENSP00000257192:p.Ala246Thr			p.A246T	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		7	948	+			246	Cadherin 2.	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.736G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121016	0.20877	.	.	ENSG00000134760	ENST00000257192	T	0.50813	0.73	5.82	0.68	0.17980	5.82	0.68	0.17980	Cadherin (4);Cadherin-like (1);	0.538614	0.17967	N	0.155976	T	0.30479	0.0766	L	0.35723	1.085	0.44302	D	0.997175	B	0.21520	0.057	B	0.29267	0.1	T	0.05533	-1.0879	10	0.17369	T	0.5	.	2.7782	0.05353	0.165:0.1091:0.5023:0.2237	.	246	Q02413	DSG1_HUMAN	T	246	ENSP00000257192:A246T	ENSP00000257192:A246T	A	+	1	0	0	DSG1	27167601	27167601	0.075000	0.21258	0.338000	0.25549	0.637000	0.38172	0.670000	0.25157	0.083000	0.17047	0.655000	0.94253	GCA		0.428	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		79.644528	-1	-1	57	57	NM_001942		26	79.644528	79.644528	26	0.500000	0	0	0	1	0	26	26	0.5
HK1	3098	broad.mit.edu	37	10	71144107	71144107	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr10:71144107C>T	ENST00000359426.6	+	11	1693	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	HK1_ENST00000404387.2_Missense_Mutation_p.A534V|HK1_ENST00000360289.2_Missense_Mutation_p.A518V|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Missense_Mutation_p.A565V|HK1_ENST00000298649.3_Missense_Mutation_p.A529V	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	530	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GACTTCTTGGCCCTGGATCTT	0.473																																						ENST00000448642.2											0			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1693-1695)gCc>gTc	hexokinase 1						180.0	175.0	177.0					10																	71144107		2203	4300	6503	SO:0001583	missense	3098			glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71144107C>T	M75126	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			2014-09-17			ENSG00000156515	ENSG00000156515	ENSG00000156515	ENSG00000156515	2.7.1.1			4922	4922	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142600	142600								Standard	Standard	NM_033496	NM_033496		Approved		uc001jpi.4	uc001jpi.4	P19367	P19367	OTTHUMG00000018380	OTTHUMG00000018380	ENST00000359426.6:c.1589C>T	10.37:g.71144107C>T	ENSP00000352398:p.Ala530Val		HK1_ENST00000404387.2_Missense_Mutation_p.A534V|HK1_ENST00000360289.2_Missense_Mutation_p.A518V|HK1_ENST00000359426.6_Missense_Mutation_p.A530V|HK1_ENST00000298649.3_Missense_Mutation_p.A529V|HK1_ENST00000494253.1_3'UTR	p.A565V			P19367	HXK1_HUMAN			16	2083	+			530	Catalytic.	E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1694C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666245	0.96745	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01	5.77	5.77	0.91146	5.77	5.77	0.91146	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	0.973;0.995;0.988;1.0;1.0;1.0	P;P;P;D;D;D	0.97110	0.675;0.675;0.678;0.999;0.999;1.0	D	0.98662	1.0684	10	0.87932	D	0	-20.7112	19.5653	0.95390	0.0:1.0:0.0:0.0	.	530;530;529;565;534;518	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	V	518;565;534;529;530;530	ENSP00000353433:A518V;ENSP00000402103:A565V;ENSP00000384774:A534V;ENSP00000298649:A529V;ENSP00000352398:A530V	ENSP00000298649:A529V	A	+	2	0	0	HK1	70814113	70814113	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.729000	0.93468	0.650000	0.86243	GCC		0.473	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		117.648876	-55	-55	145	145	NM_000188		39	118.692693	118.692693	61	0.390000	0	0	0	1	0	39	61	0.39
EP300	2033	broad.mit.edu	37	22	41573600	41573600	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr22:41573600T>C	ENST00000263253.7	+	31	7104	c.5885T>C	c.(5884-5886)aTg>aCg	p.M1962T	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1962					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGACTCCCATGGCCCCCATG	0.597			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5884-5886)aTg>aCg	E1A binding protein p300						67.0	65.0	66.0					22																	41573600		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573600T>C	U01877	U01877	CCDS14010.1	CCDS14010.1	22q13.2	2011-07-01			2011-07-01			ENSG00000100393	ENSG00000100393	ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	3373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	"""histone acetyltransferase p300"""	602700	602700						7523245	7523245	Standard	Standard	NM_001429	NM_001429		Approved	p300, KAT3B	uc003azl.4	uc003azl.4	Q09472	Q09472	OTTHUMG00000150937	OTTHUMG00000150937	ENST00000263253.7:c.5885T>C	22.37:g.41573600T>C	ENSP00000263253:p.Met1962Thr		RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.M1962T	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7104	+			1962		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5885T>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629237	0.28978	.	.	ENSG00000100393	ENST00000263253	D	0.82984	-1.67	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000015	T	0.76644	0.4016	L	0.52364	1.645	0.45205	D	0.998213	B	0.30482	0.281	B	0.21917	0.037	T	0.73190	-0.4061	10	0.15499	T	0.54	-8.3909	15.2854	0.73826	0.0:0.0:0.0:1.0	.	1962	Q09472	EP300_HUMAN	T	1962	ENSP00000263253:M1962T	ENSP00000263253:M1962T	M	+	2	0	0	EP300	39903546	39903546	1.000000	0.71417	0.931000	0.37212	0.549000	0.35272	4.068000	0.57534	2.016000	0.59253	0.459000	0.35465	ATG		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		81.741499	-37	-37	64	64	NM_001429		26	81.973914	81.973914	34	0.433333	0	0	0	1	0	26	34	0.433333
GABRE	2564	broad.mit.edu	37	X	151131076	151131076	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:151131076C>T	ENST00000370328.3	-	4	435	c.382G>A	c.(382-384)Gac>Aac	p.D128N	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.D128N|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	128					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGCGTTCGTCGTACCAGGTC	0.463																																						ENST00000370325.1											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(382-384)Gac>Aac	gamma-aminobutyric acid (GABA) A receptor, epsilon						175.0	139.0	152.0					X																	151131076		2203	4300	6503	SO:0001583	missense	2564			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151131076C>T	Y09765	Y09765	CCDS14703.1	CCDS14703.1	Xq28	2012-06-22			2012-06-22			ENSG00000102287	ENSG00000102287	ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	4085	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	"""GABA(A) receptor, epsilon"""	300093	300093						9039914, 9084408	9039914, 9084408	Standard	Standard	NM_004961	NM_004961		Approved		uc004ffi.3	uc004ffi.3	P78334	P78334	OTTHUMG00000024176	OTTHUMG00000024176	ENST00000370328.3:c.382G>A	X.37:g.151131076C>T	ENSP00000359353:p.Asp128Asn		GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.D128N	p.D128N			P78334	GBRE_HUMAN			4	435	-	Acute lymphoblastic leukemia(192;6.56e-05)		128		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.382G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350148	0.82132	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93547	-3.24;-3.24	5.6	5.6	0.85130	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000069	D	0.97548	0.9197	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98567	1.0644	10	0.87932	D	0	.	15.8742	0.79148	0.0:1.0:0.0:0.0	.	128	P78334	GBRE_HUMAN	N	128	ENSP00000359353:D128N;ENSP00000359350:D128N	ENSP00000359350:D128N	D	-	1	0	0	GABRE	150881732	150881732	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	7.818000	0.86416	2.348000	0.79779	0.600000	0.82982	GAC		0.463	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1		117.501382	-24	-24	89	89	NM_004961, NM_021990, NM_021984		36	117.504459	117.504459	35	0.507042	0	0	0	1	0	36	35	0.507042
KLHL31	401265	broad.mit.edu	37	6	53519136	53519136	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:53519136C>T	ENST00000407079.1	-	1	934	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	KLHL31_ENST00000370905.3_Missense_Mutation_p.R312Q			Q9H511	KLH31_HUMAN	kelch-like family member 31	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCAGCCACCTCGGATTCTTGT	0.483																																						ENST00000370905.3											0			autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(934-936)cGa>cAa	kelch-like family member 31						145.0	137.0	139.0					6																	53519136		2203	4300	6503	SO:0001583	missense	401265			regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519136C>T			CCDS34478.1	CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	"""Kelch-like"", ""BTB/POZ domain containing"""	21353	21353	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610749	610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1				Standard	Standard	NM_001003760	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	uc003pcb.4	Q9H511	Q9H511	OTTHUMG00000014882	OTTHUMG00000014882	ENST00000407079.1:c.935G>A	6.37:g.53519136C>T	ENSP00000384644:p.Arg312Gln		KLHL31_ENST00000407079.1_Missense_Mutation_p.R312Q	p.R312Q	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	1075	-	Lung NSC(77;0.0158)		312		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.935G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260823	0.80246	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.74002	-0.8;-0.8	5.49	5.49	0.81192	5.49	5.49	0.81192	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90999	0.4841	10	0.87932	D	0	.	19.4094	0.94662	0.0:1.0:0.0:0.0	.	312	Q9H511	KLH31_HUMAN	Q	312	ENSP00000359942:R312Q;ENSP00000384644:R312Q	ENSP00000359942:R312Q	R	-	2	0	0	KLHL31	53627095	53627095	1.000000	0.71417	0.972000	0.41901	0.594000	0.36715	7.818000	0.86416	2.583000	0.87209	0.561000	0.74099	CGA		0.483	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1		168.744348	-13	-13	132	132	NM_001003760		54	168.77542	168.775420	58	0.482143	0	0	0	1	0	54	58	0.482143
SIM2	6493	broad.mit.edu	37	21	38115707	38115707	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr21:38115707C>T	ENST00000290399.6	+	9	1631	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	SIM2_ENST00000430056.3_Missense_Mutation_p.L340F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	340	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ATACAAGGAACTTCAGCTGTC	0.587																																						ENST00000290399.6											0			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(1018-1020)Ctt>Ttt	single-minded family bHLH transcription factor 2						92.0	96.0	95.0					21																	38115707		2203	4300	6503	SO:0001583	missense	6493			cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38115707C>T			CCDS13646.1	CCDS13646.1	21q22.2	2013-10-17	2013-10-17		2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263	ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	"""Basic helix-loop-helix proteins"""	10883	10883	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	"""transcription factor SIM2"""	600892	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	7485157	Standard	Standard	NM_009586	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	uc002yvr.2	Q14190	Q14190	OTTHUMG00000086637	OTTHUMG00000086637	ENST00000290399.6:c.1018C>T	21.37:g.38115707C>T	ENSP00000290399:p.Leu340Phe		SIM2_ENST00000430056.3_Missense_Mutation_p.L340F	p.L340F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			9	1631	+			340	Single-minded C-terminal.	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.1018C>T	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.965967|1.965967	0.34659|0.34659	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.09817|.	2.97;2.94|.	4.49|4.49	1.43|1.43	0.22495|0.22495	4.49|4.49	1.43|1.43	0.22495|0.22495	Single-minded, C-terminal (1);|.	0.064020|.	0.64402|.	D|.	0.000005|.	T|T	0.45657|0.45657	0.1353|0.1353	M|M	0.66939|0.66939	2.045|2.045	0.23926|0.23926	N|N	0.996441|0.996441	D;P|.	0.56287|.	0.975;0.954|.	P;P|.	0.58210|.	0.835;0.826|.	T|T	0.34700|0.34700	-0.9818|-0.9818	10|5	0.87932|.	D|.	0|.	.|.	7.3607|7.3607	0.26745|0.26745	0.1349:0.7116:0.0:0.1536|0.1349:0.7116:0.0:0.1536	.|.	340;340|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	F|I	340|277	ENSP00000290399:L340F;ENSP00000404176:L340F|.	ENSP00000290399:L340F|.	L|T	+|+	1|2	0|0	0|0	SIM2|SIM2	37037577|37037577	37037577|37037577	0.751000|0.751000	0.28327|0.28327	0.052000|0.052000	0.19188|0.19188	0.953000|0.953000	0.61014|0.61014	1.401000|1.401000	0.34589|0.34589	0.435000|0.435000	0.26365|0.26365	0.462000|0.462000	0.41574|0.41574	CTT|ACT		0.587	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1		10.687037	-2	-2	94	94	NM_009586		7	17.657973	17.657973	46	0.132075	0	0	0	1	0	7	46	0.132075
FANCL	55120	broad.mit.edu	37	2	58388662	58388662	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:58388662A>G	ENST00000233741.4	-	12	1051	c.1015T>C	c.(1015-1017)Tat>Cat	p.Y339H	FANCL_ENST00000403295.3_Missense_Mutation_p.Y311H|FANCL_ENST00000403676.1_Missense_Mutation_p.Y222H|FANCL_ENST00000402135.3_Missense_Mutation_p.Y344H	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	339					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						TTTACCTCATATAAGCATATT	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3											0			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(1030-1032)Tat>Cat	Fanconi anemia, complementation group L						75.0	81.0	79.0					2																	58388662		2201	4297	6498	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58388662A>G	AK001197	AK001197	CCDS1860.1, CCDS46294.1	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	20748	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608111	608111	"""PHD finger protein 9"""	PHF9	"""PHD finger protein 9"""	PHF9				Standard	Standard	NM_018062	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	uc002rzx.4	Q9NW38	Q9NW38	OTTHUMG00000129349	OTTHUMG00000129349	ENST00000233741.4:c.1015T>C	2.37:g.58388662A>G	ENSP00000233741:p.Tyr339His		FANCL_ENST00000233741.4_Missense_Mutation_p.Y339H|FANCL_ENST00000403676.1_Missense_Mutation_p.Y222H|FANCL_ENST00000403295.3_Missense_Mutation_p.Y311H	p.Y344H	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			12	1066	-			339		Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.1030T>C	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733916	0.89482	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070	T;T;T;T;T	0.67865	-0.24;-0.29;-0.29;-0.24;-0.24	5.91	5.91	0.95273	5.91	5.91	0.95273	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.053587	0.85682	D	0.000000	D	0.84238	0.5428	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.99;0.999;1.0	D	0.86473	0.1786	10	0.59425	D	0.04	-17.6464	16.3469	0.83138	1.0:0.0:0.0:0.0	.	280;311;344;339	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	H	311;339;344;222;280	ENSP00000386097:Y311H;ENSP00000233741:Y339H;ENSP00000385021:Y344H;ENSP00000384046:Y222H;ENSP00000401280:Y280H	ENSP00000233741:Y339H	Y	-	1	0	0	FANCL	58242166	58242166	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.828000	0.92047	2.263000	0.75096	0.528000	0.53228	TAT		0.338	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1		21.585112	15	15	79	79	NM_018062		8	24.137054	24.137054	28	0.222222	0	0	0	1	0	8	28	0.222222
SETX	23064	broad.mit.edu	37	9	135205194	135205194	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:135205194G>C	ENST00000224140.5	-	10	1973	c.1791C>G	c.(1789-1791)ttC>ttG	p.F597L	SETX_ENST00000393220.1_Missense_Mutation_p.F597L|SETX_ENST00000372169.2_Missense_Mutation_p.F597L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	597					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAGGTGCTTTGAATTTTATGT	0.358																																						ENST00000372169.2											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1789-1791)ttC>ttG	senataxin						56.0	52.0	54.0					9																	135205194		2203	4299	6502	SO:0001583	missense	23064			cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205194G>C	AB014525	AB014525	CCDS6947.1	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290	ENSG00000107290	ENSG00000107290				445	445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608465	608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	9497266, 11022012	Standard	Standard	NM_015046	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	uc004cbk.3	Q7Z333	Q7Z333	OTTHUMG00000020834	OTTHUMG00000020834	ENST00000224140.5:c.1791C>G	9.37:g.135205194G>C	ENSP00000224140:p.Phe597Leu		SETX_ENST00000224140.5_Missense_Mutation_p.F597L|SETX_ENST00000393220.1_Missense_Mutation_p.F597L	p.F597L			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1973	-		Myeloproliferative disorder(178;0.204)	597		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1791C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	3.984	-0.005752	0.07773	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.81499	-1.5;-1.5;-1.5	5.92	-0.453	0.12201	5.92	-0.453	0.12201	.	2.275650	0.01566	N	0.020363	T	0.63070	0.2480	N	0.19112	0.55	0.20764	N	0.99986	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.47420	-0.9119	10	0.09590	T	0.72	.	2.0329	0.03533	0.1925:0.1097:0.4507:0.2471	.	597;597;597	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	597	ENSP00000224140:F597L;ENSP00000361242:F597L;ENSP00000376913:F597L	ENSP00000224140:F597L	F	-	3	2	2	SETX	134195015	134195015	0.101000	0.21875	0.033000	0.17914	0.701000	0.40568	0.215000	0.17562	-0.127000	0.11661	-1.301000	0.01330	TTC		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		18.613318	16	16	65	65	NM_015046		7	19.701928	19.701928	18	0.280000	0	0	0	1	0	7	18	0.28
TNFRSF8	943	broad.mit.edu	37	1	12164444	12164444	+	Missense_Mutation	SNP	G	G	A	rs141205943		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:12164444G>A	ENST00000263932.2	+	4	499	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	93					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V93M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGACGACCTCGTGGAGAAGAC	0.592																																						ENST00000263932.2											1	Substitution - Missense(1)	pancreas(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(277-279)Gtg>Atg	tumor necrosis factor receptor superfamily, member 8	G	MET/VAL	1,4405		0,1,2202	124.0	100.0	108.0		277	4.9	1.0	1	dbSNP_134	108	0,8600		0,0,4300	no	missense	TNFRSF8	NM_001243.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	93/596	12164444	1,13005	2203	4300	6503	SO:0001583	missense	0			cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164444G>A	M83554	M83554	CCDS144.1, CCDS59989.1	CCDS144.1, CCDS59989.1	1p36	2008-02-05			2008-02-05			ENSG00000120949	ENSG00000120949	ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	11923	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			153243	153243		CD30, D1S166E		CD30, D1S166E		1330892, 1310894	1330892, 1310894	Standard	Standard	XM_006711049	XM_006711049		Approved	KI-1	uc001atq.3	uc001atq.3	P28908	P28908	OTTHUMG00000001827	OTTHUMG00000001827	ENST00000263932.2:c.277G>A	1.37:g.12164444G>A	ENSP00000263932:p.Val93Met		TNFRSF8_ENST00000417814.2_5'UTR	p.V93M	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	499	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	93		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.277G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.053279	0.55218	2.27E-4	0.0	ENSG00000120949	ENST00000263932	D	0.92149	-2.98	4.92	4.92	0.64577	4.92	4.92	0.64577	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.121291	0.36303	N	0.002670	D	0.95427	0.8515	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95108	0.8236	10	0.54805	T	0.06	-36.1039	14.3555	0.66735	0.0:0.0:1.0:0.0	.	93	P28908	TNR8_HUMAN	M	93	ENSP00000263932:V93M	ENSP00000263932:V93M	V	+	1	0	0	TNFRSF8	12087031	12087031	1.000000	0.71417	0.977000	0.42913	0.304000	0.27724	4.870000	0.63035	2.665000	0.90641	0.650000	0.86243	GTG		0.592	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		51.269975	-23	-23	72	72			17	51.294285	51.294285	19	0.472222	0	0	0	1	0	17	19	0.472222
RYR2	6262	broad.mit.edu	37	1	237791261	237791261	+	Silent	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:237791261G>T	ENST00000366574.2	+	41	6638	c.6321G>T	c.(6319-6321)acG>acT	p.T2107T	RYR2_ENST00000360064.6_Silent_p.T2105T|RYR2_ENST00000542537.1_Silent_p.T2091T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2107	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACCTACACGATAAATGGTG	0.547																																						ENST00000366574.2											0			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6319-6321)acG>acT	ryanodine receptor 2 (cardiac)						92.0	93.0	93.0					1																	237791261		2002	4144	6146	SO:0001819	synonymous_variant	6262			cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791261G>T	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.6321G>T	1.37:g.237791261G>T			RYR2_ENST00000542537.1_Silent_p.T2091T|RYR2_ENST00000360064.6_Silent_p.T2105T	p.T2107T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6638	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2107	4 X approximate repeats.	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6321G>T	CCDS55691.1																																																																																									0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		40.070863	0	0	43	43	NM_001035		13	40.187047	40.187047	17	0.433333	1	0	7.03913e-09	1	7.45319e-09	13	17	0.433333
SACS	26278	broad.mit.edu	37	13	23913291	23913291	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:23913291C>T	ENST00000382292.3	-	9	4997	c.4724G>A	c.(4723-4725)cGg>cAg	p.R1575Q	SACS_ENST00000402364.1_Missense_Mutation_p.R825Q|SACS_ENST00000382298.3_Missense_Mutation_p.R1575Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1575			R -> P (in SACS). {ECO:0000269|PubMed:20876471}.		cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATGAATTCCCGACTCATAAT	0.338																																						ENST00000382298.3											0			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4723-4725)cGg>cAg	spastic ataxia of Charlevoix-Saguenay (sacsin)						88.0	86.0	87.0					13																	23913291		2203	4298	6501	SO:0001583	missense	26278			cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913291C>T	AF193556	AF193556	CCDS9300.2	CCDS9300.2	13q11	2014-06-13	2014-01-30		2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	"""Heat shock proteins / DNAJ (HSP40)"""	10519	10519	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	"""protein phosphatase 1, regulatory subunit 138"""	604490	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""		"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	10610707, 15057823, 21726565	Standard	Standard	NM_001278055	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	uc001uon.3	Q9NZJ4	Q9NZJ4	OTTHUMG00000016562	OTTHUMG00000016562	ENST00000382292.3:c.4724G>A	13.37:g.23913291C>T	ENSP00000371729:p.Arg1575Gln		SACS_ENST00000402364.1_Missense_Mutation_p.R825Q|SACS_ENST00000382292.3_Missense_Mutation_p.R1575Q	p.R1575Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5312	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1575		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4724G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045175	0.75846	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.3;-2.3;-2.3	6.16	6.16	0.99307	6.16	6.16	0.99307	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	L	0.53249	1.67	0.50467	D	0.999873	D	0.65815	0.995	P	0.58520	0.84	D	0.89566	0.3810	10	0.45353	T	0.12	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1575	Q9NZJ4	SACS_HUMAN	Q	1575;825;1575	ENSP00000371729:R1575Q;ENSP00000385844:R825Q;ENSP00000371735:R1575Q	ENSP00000371729:R1575Q	R	-	2	0	0	SACS	22811291	22811291	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGG		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		-3.416873	-4	-4	91	91	NM_014363		3	6.705284	6.705284	47	0.060000	0	0	0	1	0	3	47	0.06
NDN	4692	broad.mit.edu	37	15	23932001	23932001	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:23932001G>T	ENST00000331837.4	-	1	449	c.364C>A	c.(364-366)Cca>Aca	p.P122T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	122	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACCATGTCTGGAAACCAGATG	0.622									Prader-Willi syndrome																													ENST00000331837.4											0			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(364-366)Cca>Aca	necdin, melanoma antigen (MAGE) family member						90.0	84.0	86.0					15																	23932001		2203	4300	6503	SO:0001583	missense	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932001G>T	U35139	U35139	CCDS10014.1	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636	ENSG00000182636	ENSG00000182636				7675	7675	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	"""Prader-Willi syndrome chromosome region"""	602117	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""		"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	9302265	Standard	Standard	NM_002487	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	uc001ywk.3	Q99608	Q99608	OTTHUMG00000129161	OTTHUMG00000129161	ENST00000331837.4:c.364C>A	15.37:g.23932001G>T	ENSP00000332643:p.Pro122Thr			p.P122T	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	449	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	122	MAGE.	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.364C>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741565	0.15642	.	.	ENSG00000182636	ENST00000331837	T	0.03920	3.76	3.7	2.66	0.31614	3.7	2.66	0.31614	.	0.061993	0.64402	D	0.000006	T	0.02455	0.0075	N	0.03154	-0.405	0.30090	N	0.808422	B	0.25904	0.137	B	0.31290	0.127	T	0.23154	-1.0196	10	0.45353	T	0.12	.	7.6073	0.28110	0.0:0.0:0.7466:0.2533	.	122	Q99608	NECD_HUMAN	T	122	ENSP00000332643:P122T	ENSP00000332643:P122T	P	-	1	0	0	NDN	21483094	21483094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.825000	0.39081	1.999000	0.58509	0.655000	0.94253	CCA		0.622	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2		7.938849	-66	-66	145	145	NM_002487		11	25.778952	25.778952	100	0.099099	1	0	2.27111e-07	1	2.336e-07	11	100	0.099099
SLC27A6	28965	broad.mit.edu	37	5	128302199	128302199	+	Silent	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:128302199C>T	ENST00000262462.4	+	1	1379	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SLC27A6_ENST00000395266.1_Silent_p.F123F|SLC27A6_ENST00000506176.1_Silent_p.F123F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	123					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACGTGTGGTTCGGCCTCGCCA	0.592																																						ENST00000262462.4											0			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(367-369)ttC>ttT	solute carrier family 27 (fatty acid transporter), member 6						79.0	59.0	65.0					5																	128302199		2203	4300	6503	SO:0001819	synonymous_variant	28965			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302199C>T	AF064254	AF064254	CCDS4145.1	CCDS4145.1	5q23.3	2013-05-22			2013-05-22			ENSG00000113396	ENSG00000113396	ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	11000	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196	604196						12556534, 10479480	12556534, 10479480	Standard	Standard	XM_005271967	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	uc003kuy.3	Q9Y2P4	Q9Y2P4	OTTHUMG00000128991	OTTHUMG00000128991	ENST00000262462.4:c.369C>T	5.37:g.128302199C>T			SLC27A6_ENST00000506176.1_Silent_p.F123F|SLC27A6_ENST00000395266.1_Silent_p.F123F	p.F123F			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1379	+		all_cancers(142;0.0483)|Prostate(80;0.055)	123		Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.369C>T	CCDS4145.1																																																																																									0.592	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		33.825504	-3	-3	22	22	NM_014031		11	33.861312	33.861312	13	0.458333	0	0	0	1	0	11	13	0.458333
RPS6KC1	26750	broad.mit.edu	37	1	213415244	213415244	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:213415244G>T	ENST00000366960.3	+	11	2575	c.2425G>T	c.(2425-2427)Gta>Tta	p.V809L	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V597L|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V512L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V797L|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	809	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAGTCAGCAGTAACTGCAAA	0.393																																						ENST00000366960.3											0			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2425-2427)Gta>Tta	ribosomal protein S6 kinase, 52kDa, polypeptide 1						125.0	127.0	127.0					1																	213415244		2203	4300	6503	SO:0001583	missense	26750			cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415244G>T	AF037447	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643	ENSG00000136643	ENSG00000136643				10439	10439	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""		"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	10552933	Standard	Standard	XM_005273095	XM_005273095		Approved	humS6PKh1	uc010ptr.2	uc010ptr.2	Q96S38	Q96S38	OTTHUMG00000036926	OTTHUMG00000036926	ENST00000366960.3:c.2425G>T	1.37:g.213415244G>T	ENSP00000355927:p.Val809Leu		RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V597L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V797L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V512L	p.V809L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2575	+			809	Protein kinase 2.	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2425G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039505	0.02013	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.39056	1.47;1.49;1.5;1.1	5.63	1.23	0.21249	5.63	1.23	0.21249	Protein kinase, catalytic domain (1);	1.366050	0.04548	N	0.389286	T	0.30355	0.0762	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.19128	-1.0315	10	0.35671	T	0.21	-24.3873	1.1846	0.01852	0.197:0.1561:0.3853:0.2615	.	597;809;797	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	L	597;809;797;512	ENSP00000442306:V597L;ENSP00000355927:V809L;ENSP00000355926:V797L;ENSP00000439282:V512L	ENSP00000355926:V797L	V	+	1	0	0	RPS6KC1	211481867	211481867	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-0.165000	0.09968	0.259000	0.21709	0.655000	0.94253	GTA		0.393	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		116.171916	-9	-9	115	115	NM_012424		37	116.171916	116.171916	37	0.500000	1	0	5.43694e-19	1	5.9312e-19	37	37	0.5
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						143.0	133.0	136.0					X																	20156731		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp		EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	229	-			9		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	0	EIF1AX	20066652	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		77.401855	-23	-23	152	152			24	77.445234	77.445234	21	0.533333	0	0	0	1	0	24	21	0.533333
KRTAP4-4	84616	broad.mit.edu	37	17	39316785	39316785	+	Silent	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr17:39316785G>A	ENST00000390661.3	-	1	198	c.159C>T	c.(157-159)acC>acT	p.T53T		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	53	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAGGTGGTCTGGCAGC	0.672																																						ENST00000390661.3											0			kidney(1)|large_intestine(1)|lung(5)	7						c.(157-159)acC>acT	keratin associated protein 4-4						46.0	54.0	51.0					17																	39316785		2201	4298	6499	SO:0001819	synonymous_variant	84616				keratin filament		g.chr17:39316785G>A	AJ406936	AJ406936	CCDS11383.1	CCDS11383.1	17q21.2	2013-06-25			2013-06-25			ENSG00000171396	ENSG00000171396	ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	"""Keratin associated proteins"""	16928	16928	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""keratin associated protein 4-13"""	KRTAP4-13	"""keratin associated protein 4-13"""	KRTAP4-13		11279113	11279113	Standard	Standard	NM_032524	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	uc002hwc.3	Q9BYR3	Q9BYR3	OTTHUMG00000133428	OTTHUMG00000133428	ENST00000390661.3:c.159C>T	17.37:g.39316785G>A				p.T53T	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	198	-		Breast(137;0.000496)	53	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].	Q9BYU7	Silent	SNP	ENST00000390661.3	37	c.159C>T	CCDS11383.1																																																																																									0.672	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1		35.393988	17	17	75	75			12	35.656306	35.656306	18	0.400000	0	0	0	1	0	12	18	0.4
SF3B1	23451	broad.mit.edu	37	2	198267370	198267370	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:198267370T>G	ENST00000335508.6	-	14	2078	c.1987A>C	c.(1987-1989)Act>Cct	p.T663P	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	663					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTAATACCAGTGTGTCTCGCT	0.418			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1987-1989)Act>Cct	splicing factor 3b, subunit 1, 155kDa						122.0	121.0	122.0					2																	198267370		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267370T>G	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1987A>C	2.37:g.198267370T>G	ENSP00000335321:p.Thr663Pro			p.T663P	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2078	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1987A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775956	0.90195	.	.	ENSG00000115524	ENST00000335508	T	0.66638	-0.22	5.68	5.68	0.88126	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92028	0.5631	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	663	O75533	SF3B1_HUMAN	P	663	ENSP00000335321:T663P	ENSP00000335321:T663P	T	-	1	0	0	SF3B1	197975615	197975615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	ACT		0.418	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		53.169048	-11	-11	54	54			17	53.429583	53.429583	24	0.414634	0	0	0	1	0	17	24	0.414634
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		134.968138	-24	-24	88	88	NM_002072		41	134.978597	134.978597	43	0.488095	0	0	0	1	0	41	43	0.488095
RGL1	23179	broad.mit.edu	37	1	183885710	183885710	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:183885710T>C	ENST00000360851.3	+	16	2057	c.1879T>C	c.(1879-1881)Tct>Cct	p.S627P	RGL1_ENST00000539189.1_Missense_Mutation_p.S598P|RGL1_ENST00000536277.1_Missense_Mutation_p.S625P|RGL1_ENST00000304685.4_Missense_Mutation_p.S662P			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	627					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCACAAGCGCTCTGTCTCGGT	0.493																																						ENST00000304685.4											0			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1984-1986)Tct>Cct	ral guanine nucleotide dissociation stimulator-like 1						203.0	187.0	193.0					1																	183885710		2203	4300	6503	SO:0001583	missense	23179			cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885710T>C	AF186780	AF186780	CCDS1359.1, CCDS72992.1	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			2008-02-05			ENSG00000143344	ENSG00000143344	ENSG00000143344	ENSG00000143344				30281	30281	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605667	605667						10760592, 10231032	10760592, 10231032	Standard	Standard	XM_005245010	XM_005245010		Approved	RGL	uc001gqm.3	uc001gqm.3	Q9NZL6	Q9NZL6	OTTHUMG00000035328	OTTHUMG00000035328	ENST00000360851.3:c.1879T>C	1.37:g.183885710T>C	ENSP00000354097:p.Ser627Pro		RGL1_ENST00000360851.3_Missense_Mutation_p.S627P|RGL1_ENST00000539189.1_Missense_Mutation_p.S598P|RGL1_ENST00000536277.1_Missense_Mutation_p.S625P	p.S662P	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			17	2433	+				Ras-associating.	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1984T>C		.	.	.	.	.	.	.	.	.	.	T	28.3	4.905457	0.92107	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.54675	0.61;0.61;0.64;0.63;0.56	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.210963	0.44902	D	0.000408	T	0.66509	0.2796	L	0.60455	1.87	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.994;0.994;0.994	D;P;P;P	0.65010	0.931;0.855;0.855;0.855	T	0.65274	-0.6208	10	0.36615	T	0.2	.	15.1614	0.72788	0.0:0.0:0.0:1.0	.	598;625;627;662	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	P	662;662;625;627;598	ENSP00000303192:S662P;ENSP00000356501:S662P;ENSP00000438662:S625P;ENSP00000354097:S627P;ENSP00000437355:S598P	ENSP00000303192:S662P	S	+	1	0	0	RGL1	182152333	182152333	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.837000	0.62796	2.066000	0.61787	0.528000	0.53228	TCT		0.493	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1		-6.722803	-6	-6	107	107	NM_015149		3	6.717506	6.717506	59	0.048387	0	0	0	1	0	3	59	0.048387
PNPLA7	375775	broad.mit.edu	37	9	140374845	140374845	+	Silent	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:140374845T>C	ENST00000277531.4	-	22	2610	c.2424A>G	c.(2422-2424)acA>acG	p.T808T	PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.T414T|PNPLA7_ENST00000406427.1_Silent_p.T833T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	808					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTCCAGGGTGTGAGCGTGC	0.677																																						ENST00000406427.1											0			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2497-2499)acA>acG	patatin-like phospholipase domain containing 7						69.0	53.0	58.0					9																	140374845		2203	4300	6503	SO:0001819	synonymous_variant	375775			lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140374845T>C	AK126267	AK126267	CCDS7045.1, CCDS48070.1	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	"""Patatin-like phospholipase domain containing"""	24768	24768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612122	612122	"""chromosome 9 open reading frame 111"""	C9orf111	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	16799181, 12640454, 19029121	Standard	Standard	XM_005266082	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	uc010ncj.1	Q6ZV29	Q6ZV29	OTTHUMG00000020990	OTTHUMG00000020990	ENST00000277531.4:c.2424A>G	9.37:g.140374845T>C			PNPLA7_ENST00000277531.4_Silent_p.T808T|PNPLA7_ENST00000371457.1_Silent_p.T414T	p.T833T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	23	2835	-	all_cancers(76;0.126)		808		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2499A>G	CCDS7045.1																																																																																									0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		43.151073	-21	-21	21	21	NM_152286		15	43.156091	43.156091	14	0.517241	0	0	0	1	0	15	14	0.517241
SLC39A7	7922	broad.mit.edu	37	6	33169207	33169208	+	Frame_Shift_Ins	INS	-	-	T	rs574696426		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:33169207_33169208insT	ENST00000374677.3	+	1	558_559	c.185_186insT	c.(184-189)catggcfs	p.G63fs	RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000413614.2_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.G63fs|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	63	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.S59_H66delSHAHGHGH(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGCCATGCCCATGGCCATGGCC	0.559																																						ENST00000374677.3											1	Deletion - In frame(1)	NS(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(184-189)catggcfs	solute carrier family 39 (zinc transporter), member 7																																			SO:0001589	frameshift_variant	7922				endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169207_33169208insT	AF117221	AF117221	CCDS43453.1	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	"""Solute carriers"""	4927	4927	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601416	601416	"""HLA class II region expressed gene KE4"""	HKE4	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	8812499, 1855816, 19246244, 15705588	Standard	Standard	NM_006979	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	uc003odf.3	Q92504	Q92504	OTTHUMG00000031238	OTTHUMG00000031238	ENST00000374677.3:c.186dupT	6.37:g.33169208_33169208dupT	ENSP00000363809:p.Gly63fs		SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.G63fs	p.G63fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			1	558_559	+			63	His-rich.	B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Ins	INS	ENST00000374677.3	37	c.185_186insT	CCDS43453.1																																																																																									0.559	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	.	.	-4	-4	50	50	NM_006979		32			32	0.50						32	32	0.5
AIM1	202	broad.mit.edu	37	6	106960619	106960619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:106960619delA	ENST00000369066.3	+	1	890	c.403delA	c.(403-405)aagfs	p.K135fs		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTCCCCACCCAAGAGGGTGCC	0.756																																						ENST00000369066.3											0			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(403-405)aagfs	absent in melanoma 1						4.0	6.0	5.0					6																	106960619		1924	3973	5897	SO:0001589	frameshift_variant	202					sugar binding	g.chr6:106960619delA	U83115	U83115	CCDS34506.1	CCDS34506.1	6q21	2014-01-29			2014-01-29			ENSG00000112297	ENSG00000112297	ENSG00000112297	ENSG00000112297				356	356	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	1680551, 12693952	Standard	Standard	NM_001624	NM_001624		Approved	CRYBG1	uc003prh.3	uc003prh.3	Q9Y4K1	Q9Y4K1	OTTHUMG00000015302	OTTHUMG00000015302	ENST00000369066.3:c.403delA	6.37:g.106960619delA	ENSP00000358062:p.Lys135fs			p.K135fs	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	890	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	135		Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	37	c.403delA	CCDS34506.1																																																																																									0.756	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	.	.	-3	-3	6	6			2			4	0.33						2	4	0.33
TYRP1	7306	broad.mit.edu	37	9	12695537	12695541	+	Frame_Shift_Del	DEL	AAGTA	AAGTA	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:12695537_12695541delAAGTA	ENST00000388918.5	+	3	537_541	c.408_412delAAGTA	c.(406-414)ttaagtaaafs	p.SK137fs	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	137					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCTGGACTTAAGTAAAGAAGAAAA	0.429									Oculocutaneous Albinism																													ENST00000388918.5											0			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(406-414)ttaagtaaafs	tyrosinase-related protein 1																																			SO:0001589	frameshift_variant	7306	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695537_12695541delAAGTA	L33830	L33830	CCDS34990.1	CCDS34990.1	9p23	2013-01-08			2013-01-08			ENSG00000107165	ENSG00000107165	ENSG00000107165	ENSG00000107165				12450	12450	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			115501	115501		TYRP, CAS2		TYRP, CAS2		9434945	9434945	Standard	Standard	NM_000550	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	uc003zkv.4	P17643	P17643	OTTHUMG00000021034	OTTHUMG00000021034	ENST00000388918.5:c.408_412delAAGTA	9.37:g.12695537_12695541delAAGTA	ENSP00000373570:p.Ser137fs		TYRP1_ENST00000381137.2_5'UTR	p.SK137fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	3	537_541	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	137		P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.408_412delAAGTA	CCDS34990.1																																																																																									0.429	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	.	.	0	0	77	77	NM_000550		13			76	0.15						13	76	0.15
RENBP	5973	broad.mit.edu	37	X	153207074	153207074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:153207074delG	ENST00000393700.3	-	8	882	c.802delC	c.(802-804)cgtfs	p.R268fs	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_Frame_Shift_Del_p.S240fs|RENBP_ENST00000369997.3_Frame_Shift_Del_p.R254fs	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	268					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATGCAATGACGGAGCAGAAAC	0.637																																						ENST00000393700.3											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(802-804)cgtfs	renin binding protein						68.0	61.0	63.0					X																	153207074		2203	4300	6503	SO:0001589	frameshift_variant	5973			mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207074delG			CCDS14738.2	CCDS14738.2	Xq28	2013-09-23	2001-11-28		2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032	ENSG00000102032	ENSG00000102032				9959	9959	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	312420	"""renin-binding protein"""		"""renin-binding protein"""			1618798	1618798	Standard	Standard	NM_002910	NM_002910		Approved	RNBP, RBP	uc004fjo.2	uc004fjo.2	P51606	P51606	OTTHUMG00000024224	OTTHUMG00000024224	ENST00000393700.3:c.802delC	X.37:g.153207074delG	ENSP00000377303:p.Arg268fs		RENBP_ENST00000412763.1_Frame_Shift_Del_p.S240fs|RENBP_ENST00000369997.3_Frame_Shift_Del_p.R254fs	p.R268fs	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			8	882	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		268		B4DNZ3|Q96BI6	Frame_Shift_Del	DEL	ENST00000393700.3	37	c.802delC	CCDS14738.2																																																																																									0.637	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	.	.	-31	-31	75	75	NM_002910		21			46	0.31						21	46	0.31
