#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PRDM2	7799	broad.mit.edu	37	1	14107286	14107286	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:14107286C>A	ENST00000235372.7	+	8	3852	c.2996C>A	c.(2995-2997)tCt>tAt	p.S999Y	PRDM2_ENST00000311066.5_Missense_Mutation_p.S999Y|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S798Y|PRDM2_ENST00000343137.4_Missense_Mutation_p.S798Y	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	999	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S999Y(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGCCCCCTCTTCCAGTGCA	0.607																																						uc001avi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2995-2997)TCT>TAT		retinoblastoma protein-binding zinc finger							134.0	121.0	125.0					1																	14107286		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107286C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2996C>A	1.37:g.14107286C>A	ENSP00000235372:p.Ser999Tyr					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S999Y|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S798Y|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S999Y	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3852	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	999			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2996C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734665	0.48939	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01647	4.82;4.71;4.72;4.72	5.97	5.97	0.96955	.	0.266952	0.37178	N	0.002211	T	0.05090	0.0136	L	0.51422	1.61	0.37078	D	0.89884	P;P;D	0.56035	0.956;0.956;0.974	P;P;P	0.54312	0.564;0.564;0.748	T	0.25950	-1.0117	10	0.59425	D	0.04	.	12.33	0.55033	0.0:0.9227:0.0:0.0773	.	857;999;999	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	Y	999;999;999;798;798	ENSP00000235372:S999Y;ENSP00000312352:S999Y;ENSP00000411103:S798Y;ENSP00000341621:S798Y	ENSP00000235372:S999Y	S	+	2	0	PRDM2	13979873	0.030000	0.19436	0.983000	0.44433	0.464000	0.32679	2.152000	0.42272	2.837000	0.97791	0.655000	0.94253	TCT		0.607	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231		94	67	1	0	5.34484e-38	0.01441	6.14407e-38	94	67		
UBR4	23352	broad.mit.edu	37	1	19475090	19475090	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:19475090T>A	ENST00000375254.3	-	50	7488	c.7461A>T	c.(7459-7461)gaA>gaT	p.E2487D	UBR4_ENST00000375217.2_Missense_Mutation_p.E2487D|UBR4_ENST00000375267.2_Missense_Mutation_p.E2487D|UBR4_ENST00000375226.2_Missense_Mutation_p.E2498D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2487					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2487D(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAAAGCAGCTTTCCAGGGCTT	0.512																																						uc001bbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7459-7461)GAA>GAT		retinoblastoma-associated factor 600							127.0	130.0	129.0					1																	19475090		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19475090T>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7461A>T	1.37:g.19475090T>A	ENSP00000364403:p.Glu2487Asp					UBR4_uc001bbk.1_Missense_Mutation_p.E141D	p.E2487D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	50	7465	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2487					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7461A>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322357	0.23994	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.24538	1.87;1.87;1.85;1.89	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	N	0.11284	0.12	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.09314	-1.0680	10	0.11182	T	0.66	.	15.2429	0.73485	0.0:0.0:0.0:1.0	.	2487	Q5T4S7	UBR4_HUMAN	D	2487;2487;2487;2498;102;1208	ENSP00000364403:E2487D;ENSP00000364416:E2487D;ENSP00000364365:E2487D;ENSP00000364374:E2498D	ENSP00000364365:E2487D	E	-	3	2	UBR4	19347677	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.629000	0.61290	2.015000	0.59207	0.254000	0.18369	GAA		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		134	119	0	0	0	0.01441	0	134	119		
CSMD2	114784	broad.mit.edu	37	1	34076828	34076828	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:34076828G>C	ENST00000373380.1	-	20	2995	c.2775C>G	c.(2773-2775)aaC>aaG	p.N925K	CSMD2_ENST00000373377.1_Missense_Mutation_p.N151K|CSMD2_ENST00000373388.2_Missense_Mutation_p.N151K|CSMD2_ENST00000373381.4_Missense_Mutation_p.N2052K			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2012	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N2012K(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTGGAGAAGTTCAGGAACT	0.547																																						uc001bxn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6034-6036)AAC>AAG		CUB and Sushi multiple domains 2							88.0	91.0	90.0					1																	34076828		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076828G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2775C>G	1.37:g.34076828G>C	ENSP00000362478:p.Asn925Lys					CSMD2_uc001bxm.1_Missense_Mutation_p.N2052K|CSMD2_uc001bxo.1_Missense_Mutation_p.N925K	p.N2012K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			41	6065	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2012			CUB 12.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6036C>G		.	.	.	.	.	.	.	.	.	.	G	20.1	3.932886	0.73442	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.37	4.45	0.53987	CUB (5);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.60067	1.865	0.52099	D	0.999949	P;D;D	0.89917	0.904;1.0;1.0	P;D;D	0.85130	0.702;0.991;0.997	T	0.02893	-1.1097	10	0.34782	T	0.22	.	9.3829	0.38325	0.1616:0.0:0.8384:0.0	.	925;2012;2052	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	2052;925;151;151	ENSP00000362479:N2052K;ENSP00000362478:N925K;ENSP00000362475:N151K;ENSP00000362486:N151K	ENSP00000241312:N2012K	N	-	3	2	CSMD2	33849415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.436000	0.52856	1.265000	0.44215	0.561000	0.74099	AAC		0.547	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4		NM_052896		15	30	0	0	0	0.004007	0	15	30		
RIMS3	9783	broad.mit.edu	37	1	41101622	41101622	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:41101622C>T	ENST00000372684.3	-	4	794	c.325G>A	c.(325-327)Gat>Aat	p.D109N	RIMS3_ENST00000372683.1_Missense_Mutation_p.D109N	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	109					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.D109N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGCTCCCATCGGTGGACTCC	0.682																																						uc001cfu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(325-327)GAT>AAT		regulating synaptic membrane exocytosis 3							78.0	69.0	72.0					1																	41101622		2203	4299	6502	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41101622C>T	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.325G>A	1.37:g.41101622C>T	ENSP00000361769:p.Asp109Asn					RIMS3_uc001cfv.1_Missense_Mutation_p.D109N	p.D109N	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		4	794	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	109					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.325G>A	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264465	0.80358	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.40225	1.04;1.04	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.53617	1.68	0.80722	D	1	D	0.76494	0.999	P	0.56216	0.794	T	0.46679	-0.9174	10	0.35671	T	0.21	-16.5952	15.9164	0.79521	0.0:1.0:0.0:0.0	.	109	Q9UJD0	RIMS3_HUMAN	N	109	ENSP00000361769:D109N;ENSP00000361768:D109N	ENSP00000361768:D109N	D	-	1	0	RIMS3	40874209	1.000000	0.71417	0.465000	0.27155	0.979000	0.70002	7.575000	0.82447	2.626000	0.88956	0.650000	0.86243	GAT		0.682	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1		NM_014747		81	44	0	0	0	0.01441	0	81	44		
GLIS1	148979	broad.mit.edu	37	1	53986418	53986418	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:53986418C>T	ENST00000312233.2	-	6	1656	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.E364K(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ACGTCGGCCTCGGTGTCAGGG	0.662																																						uc001cvr.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	skin(1)	1						c.(1090-1092)GAG>AAG		GLIS family zinc finger 1							36.0	37.0	37.0					1																	53986418		2201	4298	6499	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53986418C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1090G>A	1.37:g.53986418C>T	ENSP00000309653:p.Glu364Lys						p.E364K	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			6	1657	-			364						Missense_Mutation	SNP	ENST00000312233.2	37	c.1090G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585130	0.46110	.	.	ENSG00000174332	ENST00000312233	T	0.11169	2.8	4.89	4.89	0.63831	.	0.000000	0.50627	D	0.000117	T	0.08891	0.0220	L	0.36672	1.1	0.58432	D	0.999999	P	0.35348	0.496	B	0.27608	0.081	T	0.30822	-0.9965	10	0.18276	T	0.48	.	16.626	0.84970	0.0:1.0:0.0:0.0	.	364	Q8NBF1	GLIS1_HUMAN	K	364	ENSP00000309653:E364K	ENSP00000309653:E364K	E	-	1	0	GLIS1	53759006	1.000000	0.71417	0.737000	0.30932	0.058000	0.15608	4.724000	0.61972	2.434000	0.82447	0.561000	0.74099	GAG		0.662	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1		NM_147193		13	21	0	0	0	0.001855	0	13	21		
TGFBR3	7049	broad.mit.edu	37	1	92185658	92185658	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:92185658G>A	ENST00000525962.1	-	8	1266	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	TGFBR3_ENST00000212355.4_Missense_Mutation_p.P402L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P401L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	402					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.P402L(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GAAAGGAAACGGAAGGCCTCC	0.572																																						uc001doh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1204-1206)CCG>CTG		transforming growth factor, beta receptor III							59.0	61.0	60.0					1																	92185658		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185658G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1205C>T	1.37:g.92185658G>A	ENSP00000436127:p.Pro402Leu					TGFBR3_uc009wde.2_Missense_Mutation_p.P179L|TGFBR3_uc010osy.1_Missense_Mutation_p.P360L|TGFBR3_uc001doi.2_Missense_Mutation_p.P401L|TGFBR3_uc001doj.2_Missense_Mutation_p.P401L	p.P402L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1671	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	402			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1205C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437001	0.25900	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.38	4.47	0.54385	.	0.178569	0.49916	N	0.000132	T	0.13884	0.0336	L	0.59436	1.845	0.58432	D	0.999993	P;B;P	0.44478	0.836;0.219;0.836	B;B;B	0.29176	0.099;0.016;0.099	T	0.06789	-1.0807	10	0.72032	D	0.01	-10.3159	12.5616	0.56283	0.0771:0.0:0.9229:0.0	.	402;401;402	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	L	402;401;402;401	ENSP00000212355:P402L;ENSP00000359426:P401L;ENSP00000436127:P402L;ENSP00000432638:P401L	ENSP00000212355:P402L	P	-	2	0	TGFBR3	91958246	0.999000	0.42202	1.000000	0.80357	0.090000	0.18270	1.440000	0.35024	1.420000	0.47138	0.655000	0.94253	CCG		0.572	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		67	56	0	0	0	0.01441	0	67	56		
FLG	2312	broad.mit.edu	37	1	152279046	152279046	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:152279046G>T	ENST00000368799.1	-	3	8351	c.8316C>A	c.(8314-8316)gaC>gaA	p.D2772E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2772	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D2772E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCTGTCTTGTGCCT	0.597									Ichthyosis																													uc001ezu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8314-8316)GAC>GAA		filaggrin							343.0	445.0	411.0					1																	152279046		2197	4299	6496	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279046G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8316C>A	1.37:g.152279046G>T	ENSP00000357789:p.Asp2772Glu						p.D2772E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8352	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2772			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8316C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625150	0.28889	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.04809	3.55	4.28	4.28	0.50868	.	.	.	.	.	T	0.10895	0.0266	M	0.81239	2.535	0.18873	N	0.999985	D	0.67145	0.996	P	0.59948	0.866	T	0.01863	-1.1258	9	0.72032	D	0.01	-15.2341	13.0084	0.58718	0.0:0.0:1.0:0.0	.	2772	P20930	FILA_HUMAN	E	2772;34	ENSP00000357789:D2772E	ENSP00000357786:D34E	D	-	3	2	FLG	150545670	0.492000	0.26027	0.338000	0.25549	0.036000	0.12997	2.230000	0.42999	2.331000	0.79229	0.306000	0.20318	GAC		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		168	560	1	0	5.87652e-79	0.01441	6.81899e-79	168	560		
SLC39A1	27173	broad.mit.edu	37	1	153932939	153932939	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:153932939G>A	ENST00000368623.3	-	3	1369	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	CRTC2_ENST00000368633.1_5'Flank|CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R204W|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000310483.6_Missense_Mutation_p.R204W|SLC39A1_ENST00000537590.1_Missense_Mutation_p.R102W|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R204W			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	204					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.R204W(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GCCCGAGCCCGGTCTCGCTGC	0.662																																						uc001fdh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(610-612)CGG>TGG		solute carrier family 39 (zinc transporter),							37.0	37.0	37.0					1																	153932939		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153932939G>A	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.610C>T	1.37:g.153932939G>A	ENSP00000357612:p.Arg204Trp					CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.R204W|SLC39A1_uc001fdj.2_Missense_Mutation_p.R204W|SLC39A1_uc001fdk.2_Missense_Mutation_p.R204W|SLC39A1_uc010pee.1_Missense_Mutation_p.R102W|SLC39A1_uc001fdl.2_Missense_Mutation_p.R204W	p.R204W	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	4	779	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		204			Extracellular (Potential).		B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.610C>T	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756110	0.31137	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;2.46	4.74	2.77	0.32553	.	0.263623	0.29892	N	0.010933	T	0.21841	0.0526	L	0.40543	1.245	0.38015	D	0.934663	B;B	0.14012	0.009;0.002	B;B	0.09377	0.004;0.001	T	0.08973	-1.0696	10	0.66056	D	0.02	-9.494	11.0918	0.48121	0.0:0.0:0.6517:0.3483	.	102;204	B4DDY7;Q9NY26	.;S39A1_HUMAN	W	204;204;204;204;102;193;204;204;204	ENSP00000348535:R204W;ENSP00000357612:R204W;ENSP00000357610:R204W;ENSP00000309710:R204W;ENSP00000443632:R102W;ENSP00000392950:R204W;ENSP00000392229:R204W;ENSP00000407717:R204W	ENSP00000309710:R204W	R	-	1	2	SLC39A1	152199563	0.063000	0.20901	0.990000	0.47175	0.979000	0.70002	0.953000	0.29162	0.537000	0.28751	0.462000	0.41574	CGG		0.662	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1		NM_014437		41	35	0	0	0	0.007835	0	41	35		
RXRG	6258	broad.mit.edu	37	1	165370612	165370612	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:165370612C>T	ENST00000359842.5	-	10	1582	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	427	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R427H(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GCCAATGGAACGCAGAGCTGG	0.602																																						uc001gda.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1279-1281)CGT>CAT		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						79.0	76.0	77.0					1																	165370612		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370612C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1280G>A	1.37:g.165370612C>T	ENSP00000352900:p.Arg427His						p.R427H	NM_006917	NP_008848	P48443	RXRG_HUMAN			10	1580	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		427			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1280G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924673	0.92319	.	.	ENSG00000143171	ENST00000359842	D	0.85339	-1.97	4.53	4.53	0.55603	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	M	0.93808	3.46	0.80722	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	D	0.95054	0.8189	9	0.87932	D	0	.	15.9792	0.80094	0.0:1.0:0.0:0.0	.	427	P48443	RXRG_HUMAN	H	427	ENSP00000352900:R427H	ENSP00000352900:R427H	R	-	2	0	RXRG	163637236	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.372000	0.79612	2.329000	0.79093	0.484000	0.47621	CGT		0.602	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		NM_006917		23	94	0	0	0	0.00632	0	23	94		
DNM3	26052	broad.mit.edu	37	1	172017754	172017754	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:172017754C>T	ENST00000355305.5	+	10	1356	c.1199C>T	c.(1198-1200)aCa>aTa	p.T400I	DNM3_ENST00000520906.1_Missense_Mutation_p.T400I|DNM3_ENST00000358155.4_Missense_Mutation_p.T400I|DNM3_ENST00000367733.2_Missense_Mutation_p.T400I|DNM3_ENST00000367731.1_Missense_Mutation_p.T400I			Q9UQ16	DYN3_HUMAN	dynamin 3	400					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T400I(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCTTCAGGACAGGGTTGTTT	0.333																																						uc001gie.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1198-1200)ACA>ATA		dynamin 3 isoform a							86.0	81.0	83.0					1																	172017754		1840	4082	5922	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172017754C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1199C>T	1.37:g.172017754C>T	ENSP00000347457:p.Thr400Ile					DNM3_uc001gid.3_Missense_Mutation_p.T400I|DNM3_uc009wwb.2_Missense_Mutation_p.T400I|DNM3_uc001gif.2_Missense_Mutation_p.T400I	p.T400I	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			10	1375	+			400					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.1199C>T		.	.	.	.	.	.	.	.	.	.	c	21.4	4.148267	0.78001	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.62	5.62	0.85841	.	2.172180	0.01879	N	0.037716	T	0.78298	0.4261	M	0.79926	2.475	0.49915	D	0.999837	P;D;P;B	0.53745	0.844;0.962;0.925;0.407	P;P;P;P	0.48704	0.583;0.587;0.587;0.459	T	0.71928	-0.4444	10	0.59425	D	0.04	.	18.6647	0.91485	0.0:1.0:0.0:0.0	.	400;400;400;400	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	I	400;400;400;400;400;400;290	ENSP00000350876:T400I;ENSP00000356707:T400I;ENSP00000347457:T400I;ENSP00000356705:T400I;ENSP00000429701:T400I;ENSP00000429416:T290I	ENSP00000347457:T400I	T	+	2	0	DNM3	170284377	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.773000	0.85462	2.640000	0.89533	0.558000	0.71614	ACA		0.333	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1		NM_015569		5	25	0	0	0	0.000602	0	5	25		
TNR	7143	broad.mit.edu	37	1	175355398	175355398	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:175355398G>A	ENST00000367674.2	-	8	2255	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	TNR_ENST00000263525.2_Missense_Mutation_p.S516L			Q92752	TENR_HUMAN	tenascin R	516	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S516L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACAGTGTCCGAGACATCGCG	0.512																																						uc001gkp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1546-1548)TCG>TTG		tenascin R precursor							34.0	37.0	36.0					1																	175355398		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355398G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1547C>T	1.37:g.175355398G>A	ENSP00000356646:p.Ser516Leu					TNR_uc009wwu.1_Missense_Mutation_p.S516L	p.S516L	NM_003285	NP_003276	Q92752	TENR_HUMAN			6	1628	-	Renal(580;0.146)		516			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1547C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173887	0.94807	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.05580	3.42;3.42	5.68	5.68	0.88126	Fibronectin, type III (4);	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.63381	0.914	T	0.00033	-1.2270	10	0.66056	D	0.02	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	516	Q92752	TENR_HUMAN	L	516	ENSP00000356646:S516L;ENSP00000263525:S516L	ENSP00000263525:S516L	S	-	2	0	TNR	173622021	1.000000	0.71417	0.977000	0.42913	0.906000	0.53458	9.086000	0.94088	2.660000	0.90430	0.650000	0.86243	TCG		0.512	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		12	57	0	0	0	0.00245	0	12	57		
KIF21B	23046	broad.mit.edu	37	1	200968596	200968596	+	Splice_Site	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:200968596T>C	ENST00000422435.2	-	13	2084		c.e13-2		KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000332129.2_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCCTCCTCCTGGGCACCAGG	0.632																																						uc001gvs.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(3)|skin(3)	6						c.e13-1		kinesin family member 21B							102.0	83.0	90.0					1																	200968596		2203	4300	6503	SO:0001630	splice_region_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200968596T>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1768-2A>G	1.37:g.200968596T>C						KIF21B_uc001gvr.1_Splice_Site_p.E590_splice|KIF21B_uc009wzl.1_Splice_Site_p.E590_splice|KIF21B_uc010ppn.1_Splice_Site_p.E590_splice	p.E590_splice	NM_017596	NP_060066	O75037	KI21B_HUMAN			13	2085	-								B2RP62|B7ZMI0|Q5T4J3	Splice_Site	SNP	ENST00000422435.2	37	c.1768_splice	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.968431	0.74131	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.311	0.54927	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21B	199235219	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	3.955000	0.56715	1.909000	0.55274	0.392000	0.25879	.		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332	Intron	95	35	0	0	0	0.01441	0	95	35		
ACBD3	64746	broad.mit.edu	37	1	226340215	226340215	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340215C>T	ENST00000366812.5	-	7	1250	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'Flank	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	399	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.R399Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CACTTCTCCTCGGCCCACTGT	0.463																																						uc001hpy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1195-1197)CGA>CAA		acyl-Coenzyme A binding domain containing 3							160.0	161.0	161.0					1																	226340215		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340215C>T	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1196G>A	1.37:g.226340215C>T	ENSP00000355777:p.Arg399Gln						p.R399Q	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1243	-	Breast(184;0.158)		399			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1196G>A	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808888	0.70797	.	.	ENSG00000182827	ENST00000366812	T	0.47177	0.85	5.19	5.19	0.71726	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.87097	2.86	0.80722	D	1	D	0.69078	0.997	P	0.61940	0.896	T	0.77528	-0.2554	10	0.62326	D	0.03	-8.1753	18.7281	0.91722	0.0:1.0:0.0:0.0	.	399	Q9H3P7	GCP60_HUMAN	Q	399	ENSP00000355777:R399Q	ENSP00000355777:R399Q	R	-	2	0	ACBD3	224406838	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	7.426000	0.80270	2.420000	0.82092	0.655000	0.94253	CGA		0.463	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1		NM_022735		135	225	0	0	0	0.01441	0	135	225		
ACBD3	64746	broad.mit.edu	37	1	226340229	226340229	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340229C>T	ENST00000366812.5	-	7	1236	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'Flank	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	394	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.			KEKIQQDADSVITV -> QREDSAGCRFRDYS (in Ref. 2). {ECO:0000305}.	steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.V394V(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CCACTGTAATCACGGAATCTG	0.453																																						uc001hpy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1180-1182)GTG>GTA		acyl-Coenzyme A binding domain containing 3							161.0	164.0	163.0					1																	226340229		2203	4300	6503	SO:0001819	synonymous_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340229C>T	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1182G>A	1.37:g.226340229C>T							p.V394V	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1229	-	Breast(184;0.158)		394	KEKIQQDADSVITV -> QREDSAGCRFRDYS (in Ref. 2).		GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Silent	SNP	ENST00000366812.5	37	c.1182G>A	CCDS1551.1																																																																																				0.453	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1		NM_022735		141	249	0	0	0	0.01441	0	141	249		
PHRF1	57661	broad.mit.edu	37	11	607297	607297	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:607297G>A	ENST00000264555.5	+	14	1969	c.1841G>A	c.(1840-1842)cGg>cAg	p.R614Q	PHRF1_ENST00000533464.1_Missense_Mutation_p.R610Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.R612Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.R613Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.R614Q(1)|p.R619Q(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTTCAGGCTCGGAACTTGTCA	0.667																																						uc001lqe.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1840-1842)CGG>CAG		PHD and ring finger domains 1							63.0	72.0	69.0					11																	607297		1972	4140	6112	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607297G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1841G>A	11.37:g.607297G>A	ENSP00000264555:p.Arg614Gln					PHRF1_uc010qwc.1_Missense_Mutation_p.R613Q|PHRF1_uc010qwd.1_Missense_Mutation_p.R612Q|PHRF1_uc010qwe.1_Missense_Mutation_p.R610Q|PHRF1_uc009ybz.1_Missense_Mutation_p.R404Q|PHRF1_uc009yca.1_RNA	p.R614Q	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	1972	+			614					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1841G>A		.	.	.	.	.	.	.	.	.	.	G	3.361	-0.130382	0.06753	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.28	0.673	0.17941	.	0.915375	0.08893	N	0.878429	T	0.81847	0.4909	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.003;0.002	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.63528	-0.6617	10	0.10902	T	0.67	-4.4397	9.7237	0.40320	0.7501:0.0:0.2499:0.0	.	610;612;613;614	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	614;612;613;610	ENSP00000264555:R614Q;ENSP00000388589:R612Q;ENSP00000410626:R613Q;ENSP00000431870:R610Q	ENSP00000264555:R614Q	R	+	2	0	PHRF1	597297	0.219000	0.23619	0.005000	0.12908	0.007000	0.05969	0.750000	0.26334	-0.043000	0.13513	-1.244000	0.01528	CGG		0.667	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1		NM_020901		44	137	0	0	0	0.01441	0	44	137		
PLCB3	5331	broad.mit.edu	37	11	64035013	64035013	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64035013G>A	ENST00000540288.1	+	31	3793	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E	PLCB3_ENST00000279230.6_Silent_p.E1230E|PLCB3_ENST00000325234.5_Silent_p.E1163E	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1230					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E1230E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCCAGGAGGAGAACACGCAGC	0.652																																						uc001nzb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(3688-3690)GAG>GAA		phospholipase C beta 3							4.0	5.0	5.0					11																	64035013		2029	4104	6133	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64035013G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3690G>A	11.37:g.64035013G>A						PLCB3_uc009ypg.1_Silent_p.E1230E|PLCB3_uc009yph.1_Silent_p.E1163E|PLCB3_uc009ypi.2_Silent_p.E1230E|GPR137_uc009ypj.1_5'Flank	p.E1230E	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			31	3690	+			1230					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.3690G>A	CCDS8064.1																																																																																				0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				8	3	0	0	0	0.004482	0	8	3		
PYGM	5837	broad.mit.edu	37	11	64525784	64525784	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64525784G>A	ENST00000164139.3	-	4	860	c.462C>T	c.(460-462)gcC>gcT	p.A154A	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	154					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.A154A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCATAGGCGGCCAGGCCCA	0.602																																						uc001oax.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(460-462)GCC>GCT		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						98.0	113.0	108.0					11																	64525784		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525784G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.462C>T	11.37:g.64525784G>A						PYGM_uc001oay.3_Intron	p.A154A	NM_005609	NP_005600	P11217	PYGM_HUMAN			4	1279	-			154					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.462C>T	CCDS8079.1																																																																																				0.602	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2		NM_005609		122	42	0	0	0	0.01441	0	122	42		
ANKRD49	54851	broad.mit.edu	37	11	94231644	94231644	+	Silent	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:94231644T>C	ENST00000544612.1	+	3	1163	c.666T>C	c.(664-666)taT>taC	p.Y222Y	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.Y222Y|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	222					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.Y222Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGTATCTATCACTACCTCT	0.398																																					Melanoma(113;823 1621 4352 9582 22033)	uc001pew.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(664-666)TAT>TAC		fetal globin inducing factor							74.0	77.0	76.0					11																	94231644		2201	4298	6499	SO:0001819	synonymous_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231644T>C	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.666T>C	11.37:g.94231644T>C						ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	p.Y222Y	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN			3	805	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	222					Q8NDF2|Q96JE5|Q9NXK7	Silent	SNP	ENST00000544612.1	37	c.666T>C	CCDS8300.1																																																																																				0.398	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2		NM_017704		41	64	0	0	0	0.011902	0	41	64		
PPP2R1B	5519	broad.mit.edu	37	11	111614171	111614171	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:111614171C>T	ENST00000527614.1	-	12	1548	c.1483G>A	c.(1483-1485)Gtt>Att	p.V495I	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.V431I|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.V495I|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.V450I|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.V368I|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.V334I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	495					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.V495I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACTTTGGGAACAATAGTATTT	0.383																																						uc001plx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1483-1485)GTT>ATT		beta isoform of regulatory subunit A, protein							161.0	145.0	150.0					11																	111614171		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111614171C>T	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1483G>A	11.37:g.111614171C>T	ENSP00000437193:p.Val495Ile					PPP2R1B_uc001plw.1_Missense_Mutation_p.V495I|PPP2R1B_uc010rwi.1_Missense_Mutation_p.V431I|PPP2R1B_uc010rwj.1_Missense_Mutation_p.V334I|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V450I|PPP2R1B_uc010rwl.1_Missense_Mutation_p.V368I	p.V495I	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	12	1567	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	495			HEAT 13.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1483G>A	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	9.422	1.083175	0.20309	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.114168	0.64402	D	0.000017	T	0.10766	0.0263	N	0.00841	-1.15	0.50632	D	0.999881	B;B;B;B;B;B	0.12013	0.005;0.0;0.004;0.001;0.0;0.001	B;B;B;B;B;B	0.16289	0.015;0.003;0.009;0.015;0.002;0.005	T	0.29027	-1.0025	10	0.02654	T	1	-20.5928	18.0346	0.89296	0.0:1.0:0.0:0.0	.	368;450;334;431;495;495	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	I	495;368;431;495;334;450;368	ENSP00000311344:V495I;ENSP00000410671:V431I;ENSP00000437193:V495I;ENSP00000415759:V334I;ENSP00000343317:V450I;ENSP00000376775:V368I	ENSP00000311344:V495I	V	-	1	0	PPP2R1B	111119381	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	3.668000	0.54554	2.865000	0.98341	0.655000	0.94253	GTT		0.383	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1		NM_002716		13	168	0	0	0	0.00245	0	13	168		
TECTA	7007	broad.mit.edu	37	11	121039497	121039497	+	Silent	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:121039497G>C	ENST00000392793.1	+	20	6133	c.5862G>C	c.(5860-5862)acG>acC	p.T1954T	TECTA_ENST00000264037.2_Silent_p.T1954T			O75443	TECTA_HUMAN	tectorin alpha	1954	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T1954T(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGTGTTGACGACTCGAGATG	0.483																																						uc010rzo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(6)|ovary(2)|skin(2)	10						c.(5860-5862)ACG>ACC		tectorin alpha precursor							208.0	195.0	199.0					11																	121039497		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121039497G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5862G>C	11.37:g.121039497G>C							p.T1954T	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	19	5862	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1954			ZP.			Silent	SNP	ENST00000392793.1	37	c.5862G>C	CCDS8434.1																																																																																				0.483	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		25	63	0	0	0	0.00333	0	25	63		
A2ML1	144568	broad.mit.edu	37	12	9006743	9006743	+	Silent	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:9006743T>A	ENST00000299698.7	+	21	2790	c.2610T>A	c.(2608-2610)atT>atA	p.I870I	A2ML1_ENST00000539547.1_Silent_p.I379I	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.I870I(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTTACTATTAGTACAAAGA	0.478																																						uc001quz.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2608-2610)ATT>ATA		alpha-2-macroglobulin-like 1 precursor							57.0	58.0	58.0					12																	9006743		1859	4094	5953	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9006743T>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2610T>A	12.37:g.9006743T>A						A2ML1_uc001qva.1_Silent_p.I450I|A2ML1_uc010sgm.1_Silent_p.I370I	p.I870I	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			21	2708	+			714						Silent	SNP	ENST00000299698.7	37	c.2610T>A	CCDS8596.2																																																																																				0.478	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670		13	39	0	0	0	0.013537	0	13	39		
KRT74	121391	broad.mit.edu	37	12	52962081	52962081	+	Silent	SNP	G	G	A	rs200004454	byFrequency	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:52962081G>A	ENST00000305620.2	-	7	1274	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	KRT74_ENST00000549343.1_Silent_p.G423G	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	409	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.G409G(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGTGCAGGGCGCCCTCCAGCT	0.652													G|||	4	0.000798722	0.0	0.0029	5008	,	,		17752	0.0		0.0	False		,,,				2504	0.002					uc001sap.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1225-1227)GGC>GGT		keratin 6 irs4							72.0	65.0	68.0					12																	52962081		2203	4300	6503	SO:0001819	synonymous_variant	121391					keratin filament	structural molecule activity	g.chr12:52962081G>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1227C>T	12.37:g.52962081G>A							p.G409G	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	7	1275	-			409			Rod.|Coil 2.		B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	c.1227C>T	CCDS8832.1																																																																																				0.652	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1		NM_175053		35	113	0	0	0	0.00874	0	35	113		
HSP90B1	7184	broad.mit.edu	37	12	104326676	104326676	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:104326676G>A	ENST00000299767.5	+	4	549	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	RP11-642P15.1_ENST00000548897.1_RNA|MIR3652_ENST00000579335.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	123					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.E123K(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACTGACTGATGAAAATGCTCT	0.343																																						uc001tkb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(367-369)GAA>AAA		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						120.0	120.0	120.0					12																	104326676		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104326676G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.367G>A	12.37:g.104326676G>A	ENSP00000299767:p.Glu123Lys					HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.E123K|LOC253724_uc010swf.1_5'Flank|LOC253724_uc009zuh.2_5'Flank	p.E123K	NM_003299	NP_003290	P14625	ENPL_HUMAN			4	472	+			123					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.367G>A	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171725	0.38315	.	.	ENSG00000166598	ENST00000549334;ENST00000299767;ENST00000537375	T;D	0.88975	-1.05;-2.45	6.04	6.04	0.98038	ATPase-like, ATP-binding domain (4);	0.046470	0.85682	D	0.000000	T	0.77246	0.4102	N	0.02674	-0.535	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.10450	0.005;0.005	T	0.70659	-0.4811	10	0.21014	T	0.42	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	149;123	Q59FC6;P14625	.;ENPL_HUMAN	K	39;123;123	ENSP00000446748:E39K;ENSP00000299767:E123K	ENSP00000299767:E123K	E	+	1	0	HSP90B1	102850806	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.841000	0.99482	2.873000	0.98535	0.563000	0.77884	GAA		0.343	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299		87	110	0	0	0	0.01441	0	87	110		
RCBTB1	55213	broad.mit.edu	37	13	50129739	50129739	+	Missense_Mutation	SNP	C	C	T	rs370652161		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr13:50129739C>T	ENST00000378302.2	-	6	775	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	RCBTB1_ENST00000258646.3_Missense_Mutation_p.R172Q|RCBTB1_ENST00000546015.1_Missense_Mutation_p.R172Q	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	172					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R172Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGTAACTTTTCGAGGAGTTGG	0.443																																						uc001vde.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(514-516)CGA>CAA		regulator of chromosome condensation (RCC1) and		C	GLN/ARG	0,4406		0,0,2203	163.0	135.0	145.0		515	5.2	1.0	13		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	RCBTB1	NM_018191.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	172/532	50129739	1,13005	2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50129739C>T	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.515G>A	13.37:g.50129739C>T	ENSP00000367552:p.Arg172Gln						p.R172Q	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	6	776	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	172			RCC1 3.		Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.515G>A	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240802	0.95240	0.0	1.16E-4	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.84516	-1.86;-1.86;-1.86	5.22	5.22	0.72569	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	N	0.19112	0.55	0.80722	D	1	D	0.62365	0.991	P	0.55785	0.784	T	0.82631	-0.0362	10	0.27785	T	0.31	-12.1756	19.1538	0.93502	0.0:1.0:0.0:0.0	.	172	Q8NDN9	RCBT1_HUMAN	Q	172	ENSP00000258646:R172Q;ENSP00000367552:R172Q;ENSP00000443293:R172Q	ENSP00000258646:R172Q	R	-	2	0	RCBTB1	49027740	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	7.487000	0.81328	2.597000	0.87782	0.655000	0.94253	CGA		0.443	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2		NM_018191		16	35	0	0	0	0.004007	0	16	35		
SNW1	22938	broad.mit.edu	37	14	78184464	78184464	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr14:78184464G>A	ENST00000261531.7	-	14	1640	c.1578C>T	c.(1576-1578)caC>caT	p.H526H	SNW1_ENST00000555761.1_Missense_Mutation_p.T553M|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Silent_p.H364H	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	526					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.H526H(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTCATGCTCGTGTTCCTTGG	0.468																																						uc001xuf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1576-1578)CAC>CAT		SKI-interacting protein							183.0	182.0	182.0					14																	78184464		2203	4300	6503	SO:0001819	synonymous_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184464G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1578C>T	14.37:g.78184464G>A						SNW1_uc010tvm.1_Silent_p.H451H|SNW1_uc010asu.2_Silent_p.H364H|SNW1_uc010tvn.1_Missense_Mutation_p.T553M	p.H526H	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	14	1605	-			526					A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	c.1578C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428359	0.43122	.	.	ENSG00000100603	ENST00000555761	.	.	.	5.92	-3.48	0.04739	.	.	.	.	.	T	0.31231	0.0790	.	.	.	0.23132	N	0.99825	B	0.06786	0.001	B	0.06405	0.002	T	0.21415	-1.0246	6	.	.	.	.	15.0279	0.71682	0.4671:0.0:0.5329:0.0	.	553	G3V3A4	.	M	553	.	.	T	-	2	0	SNW1	77254217	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	0.884000	0.28214	-0.701000	0.05063	-1.376000	0.01182	ACG		0.468	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1		NM_012245		100	182	0	0	0	0.01441	0	100	182		
ATP2A1	487	broad.mit.edu	37	16	28913653	28913653	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:28913653C>T	ENST00000357084.3	+	17	2737	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.P699S|ATP2A1_ENST00000395503.4_Missense_Mutation_p.P824S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	824					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.P824S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCCCGGAGCCCCAAGGAGCC	0.647																																						uc002dro.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2470-2472)CCC>TCC		ATPase, Ca++ transporting, fast twitch 1 isoform							49.0	59.0	56.0					16																	28913653		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913653C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2470C>T	16.37:g.28913653C>T	ENSP00000349595:p.Pro824Ser					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P824S|ATP2A1_uc002drp.1_Missense_Mutation_p.P699S	p.P824S	NM_173201	NP_775293	O14983	AT2A1_HUMAN			17	2654	+			824			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2470C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412000	0.25465	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.95949	-3.86;-3.86;-3.86	4.83	4.83	0.62350	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92084	0.7491	L	0.46947	1.48	0.80722	D	1	B;B;B	0.18968	0.016;0.008;0.032	B;B;B	0.19946	0.018;0.018;0.027	D	0.87704	0.2562	10	0.06099	T	0.92	.	16.8289	0.85939	0.0:1.0:0.0:0.0	.	699;824;824	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	824;824;699	ENSP00000349595:P824S;ENSP00000378879:P824S;ENSP00000443101:P699S	ENSP00000349595:P824S	P	+	1	0	ATP2A1	28821154	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.968000	0.49224	2.501000	0.84356	0.561000	0.74099	CCC		0.647	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320		51	631	0	0	0	0.01441	0	51	631		
RPGRIP1L	23322	broad.mit.edu	37	16	53679568	53679568	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:53679568C>T	ENST00000379925.3	-	17	2702	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	RPGRIP1L_ENST00000262135.4_Silent_p.L884L|RPGRIP1L_ENST00000564374.1_Silent_p.L884L|RPGRIP1L_ENST00000563746.1_Silent_p.L884L	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	884					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.L884L(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCAACGAAATCAGAGGCACAT	0.333																																						uc002ehp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2650-2652)CTG>CTA		RPGRIP1-like isoform a							83.0	83.0	83.0					16																	53679568		2198	4300	6498	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53679568C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2652G>A	16.37:g.53679568C>T						RPGRIP1L_uc002eho.3_Silent_p.L884L|RPGRIP1L_uc010vgy.1_Silent_p.L884L|RPGRIP1L_uc010cbx.2_Silent_p.L884L|RPGRIP1L_uc010vgz.1_Silent_p.L884L	p.L884L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			17	2716	-		all_cancers(37;0.0973)	884					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.2652G>A	CCDS32447.1																																																																																				0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1		NM_015272		34	70	0	0	0	0.012213	0	34	70		
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C238F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM034930	TP53	M		c.(712-714)TGT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	p.C238F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		60	8	1	0	1.77791e-30	0.01441	2.02485e-30	60	8		
TP53I13	90313	broad.mit.edu	37	17	27899299	27899299	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:27899299C>G	ENST00000301057.7	+	6	768	c.653C>G	c.(652-654)tCa>tGa	p.S218*	RP11-68I3.4_ENST00000579050.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	218						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S218*(1)		NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CCCACTCGCTCAGCCCTGAGG	0.637																																						uc002hee.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(652-654)TCA>TGA		tumor protein p53 inducible protein 13							21.0	24.0	23.0					17																	27899299		2042	4181	6223	SO:0001587	stop_gained	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27899299C>G	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.653C>G	17.37:g.27899299C>G	ENSP00000301057:p.Ser218*						p.S218*	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	6	691	+			218			Extracellular (Potential).		Q7L5U3	Nonsense_Mutation	SNP	ENST00000301057.7	37	c.653C>G	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.674956	0.47781	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.41	2.44	0.29823	.	1.647740	0.03424	N	0.206811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	0.0015	6.7284	0.23369	0.0:0.8701:0.0:0.1299	.	.	.	.	X	218	.	ENSP00000301057:S218X	S	+	2	0	TP53I13	24923425	0.000000	0.05858	0.543000	0.28128	0.068000	0.16541	0.237000	0.17985	1.009000	0.39289	-0.379000	0.06801	TCA		0.637	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2		NM_138349		55	13	0	0	0	0.01441	0	55	13		
CASKIN2	57513	broad.mit.edu	37	17	73498739	73498739	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:73498739G>A	ENST00000321617.3	-	18	3002	c.2416C>T	c.(2416-2418)Ccc>Tcc	p.P806S	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P724S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	806	Pro-rich.					cytoplasm (GO:0005737)		p.P806S(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCTGTGGGGCCAGGGCGG	0.701																																						uc002joc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(2416-2418)CCC>TCC		cask-interacting protein 2 isoform a							17.0	18.0	18.0					17																	73498739		2192	4296	6488	SO:0001583	missense	57513					cytoplasm		g.chr17:73498739G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2416C>T	17.37:g.73498739G>A	ENSP00000325355:p.Pro806Ser					CASKIN2_uc010wsc.1_Missense_Mutation_p.P724S	p.P806S	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2966	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		806			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2416C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500910	0.26861	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.68331	-0.32;-0.14	4.87	3.83	0.44106	.	0.304848	0.23914	N	0.043310	T	0.44993	0.1320	N	0.22421	0.69	0.19300	N	0.999978	B	0.30763	0.294	B	0.22386	0.039	T	0.37220	-0.9715	10	0.62326	D	0.03	.	4.7722	0.13162	0.1906:0.2744:0.535:0.0	.	806	Q8WXE0	CSKI2_HUMAN	S	806;724	ENSP00000325355:P806S;ENSP00000406963:P724S	ENSP00000325355:P806S	P	-	1	0	CASKIN2	71010334	0.605000	0.26941	0.933000	0.37362	0.032000	0.12392	1.062000	0.30555	2.537000	0.85549	0.491000	0.48974	CCC		0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1		NM_020753		4	44	0	0	0	0.009096	0	4	44		
CCDC57	284001	broad.mit.edu	37	17	80059594	80059594	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:80059594C>G	ENST00000389641.4	-	18	2751	c.2715G>C	c.(2713-2715)agG>agC	p.R905S	CCDC57_ENST00000392347.1_Missense_Mutation_p.R905S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	905								p.R905S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCTTGGGGGGCCTCTGGCAGC	0.612																																						uc002kdx.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(2710-2712)AGG>AGC		coiled-coil domain containing 57							95.0	106.0	103.0					17																	80059594		1901	4110	6011	SO:0001583	missense	284001							g.chr17:80059594C>G	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2715G>C	17.37:g.80059594C>G	ENSP00000374292:p.Arg905Ser						p.R904S	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		17	2749	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		905					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.2712G>C		.	.	.	.	.	.	.	.	.	.	c	8.944	0.966582	0.18659	.	.	ENSG00000176155	ENST00000389641;ENST00000392347	T;T	0.10288	2.89;2.89	3.26	0.948	0.19561	.	.	.	.	.	T	0.05410	0.0143	N	0.24115	0.695	0.09310	N	1	B	0.33103	0.397	B	0.31614	0.133	T	0.35919	-0.9769	9	0.25751	T	0.34	.	1.2662	0.02011	0.2245:0.4165:0.2186:0.1404	.	905	Q2TAC2	CCD57_HUMAN	S	905	ENSP00000374292:R905S;ENSP00000376158:R905S	ENSP00000374292:R905S	R	-	3	2	CCDC57	77652883	0.000000	0.05858	0.235000	0.24058	0.061000	0.15899	-1.532000	0.02217	1.538000	0.49270	0.457000	0.33378	AGG		0.612	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3		NM_198082		210	45	0	0	0	0.01441	0	210	45		
SETBP1	26040	broad.mit.edu	37	18	42530725	42530725	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr18:42530725G>A	ENST00000282030.5	+	4	1716	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	474						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E474K(1)|p.E420K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATAGAGAATGAGTCCCCCTC	0.483									Schinzel-Giedion syndrome																													uc010dni.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1420-1422)GAG>AAG		SET binding protein 1 isoform a							85.0	88.0	87.0					18																	42530725		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530725G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1420G>A	18.37:g.42530725G>A	ENSP00000282030:p.Glu474Lys						p.E474K	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1716	+			474					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1420G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684174	0.47991	.	.	ENSG00000152217	ENST00000282030	T	0.69926	-0.44	6.08	6.08	0.98989	.	0.220934	0.46758	D	0.000277	T	0.57888	0.2084	L	0.27053	0.805	0.28360	N	0.920501	B	0.30361	0.277	B	0.27380	0.079	T	0.53968	-0.8363	10	0.42905	T	0.14	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	474	Q9Y6X0	SETBP_HUMAN	K	474	ENSP00000282030:E474K	ENSP00000282030:E474K	E	+	1	0	SETBP1	40784723	1.000000	0.71417	0.050000	0.19076	0.515000	0.34225	3.921000	0.56454	2.894000	0.99253	0.655000	0.94253	GAG		0.483	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4		NM_001130110		66	27	0	0	0	0.01441	0	66	27		
PLIN4	729359	broad.mit.edu	37	19	4499523	4499523	+	IGR	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:4499523G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Silent_p.E537E|HDGFRP2_ENST00000586684.1_Silent_p.E537E	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.E537E(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACGTAATGGAGAAGGCAGCAG	0.592																																						uc002mao.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1609-1611)GAG>GAA		hepatoma-derived growth factor-related protein 2							35.0	41.0	39.0					19																	4499523		1970	4135	6105	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499523G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499523G>A						HDGFRP2_uc002map.2_Silent_p.E537E|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Silent_p.E2E|HDGFRP2_uc002maq.1_Silent_p.E2E	p.E537E	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			14	1704	+			537			Potential.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1611G>A	CCDS45927.1																																																																																				0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901		9	47	0	0	0	0.004482	0	9	47		
PRR22	163154	broad.mit.edu	37	19	5783026	5783026	+	Missense_Mutation	SNP	G	G	A	rs537666246		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:5783026G>A	ENST00000419421.2	-	3	1336	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	411								p.P409L(1)|p.P411L(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCTGGGCCCCGGGGGAGTGGC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13011	0.0		0.0	False		,,,				2504	0.0					uc002mdb.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1225-1227)CCG>CTG		proline rich 22 isoform 2							11.0	14.0	13.0					19																	5783026		2144	4237	6381	SO:0001583	missense	163154							g.chr19:5783026G>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.1232C>T	19.37:g.5783026G>A	ENSP00000407653:p.Pro411Leu					PRR22_uc010xiv.1_Missense_Mutation_p.P411L	p.P409L	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN			1	1585	-			409					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.1226C>T	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	G	5.404	0.259709	0.10239	.	.	ENSG00000212123	ENST00000419421	T	0.44482	0.92	3.12	-2.19	0.07015	.	.	.	.	.	T	0.15305	0.0369	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21042	-1.0257	9	0.27082	T	0.32	.	3.4347	0.07441	0.3956:0.2028:0.4016:0.0	.	411;409	E9PB31;Q8IZ63	.;PRR22_HUMAN	L	411	ENSP00000407653:P411L	ENSP00000407653:P411L	P	-	2	0	PRR22	5734026	0.000000	0.05858	0.016000	0.15963	0.135000	0.20990	-0.092000	0.11129	0.082000	0.17018	-0.680000	0.03767	CCG		0.667	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1		NM_153359		6	11	0	0	0	0.004482	0	6	11		
SWSAP1	126074	broad.mit.edu	37	19	11486191	11486191	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:11486191G>A	ENST00000312423.2	+	2	248	c.189G>A	c.(187-189)aaG>aaA	p.K63K	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	63					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)	p.K63K(1)									CCTTCTAGAAGATCCGCTTCC	0.582																																						uc002mrg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(187-189)AAG>AAA		hypothetical protein LOC126074							114.0	135.0	127.0					19																	11486191		2202	4298	6500	SO:0001819	synonymous_variant	126074							g.chr19:11486191G>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.189G>A	19.37:g.11486191G>A							p.K63K	NM_175871	NP_787067	Q6NVH7	CS039_HUMAN			2	226	+			63					Q8NAM1	Silent	SNP	ENST00000312423.2	37	c.189G>A	CCDS12259.1																																																																																				0.582	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1		NM_175871		99	308	0	0	0	0.01441	0	99	308		
ANO8	57719	broad.mit.edu	37	19	17440975	17440975	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:17440975G>T	ENST00000159087.4	-	10	1390	c.1232C>A	c.(1231-1233)gCc>gAc	p.A411D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	411	Leu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.A411D(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTAGCCCTCGGCACTCACACT	0.627																																						uc002ngf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1231-1233)GCC>GAC		anoctamin 8							67.0	55.0	59.0					19																	17440975		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17440975G>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1232C>A	19.37:g.17440975G>T	ENSP00000159087:p.Ala411Asp					ANO8_uc010eap.2_RNA	p.A411D	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			10	1391	-			411			Helical; (Potential).|Leu-rich.		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.1232C>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930988	0.18131	.	.	ENSG00000074855	ENST00000159087	T	0.61510	0.1	5.02	3.91	0.45181	.	0.254275	0.36101	N	0.002784	T	0.21062	0.0507	N	0.00815	-1.16	0.36727	D	0.881495	B	0.18310	0.027	B	0.21151	0.033	T	0.37979	-0.9682	10	0.02654	T	1	.	9.9002	0.41342	0.0:0.0:0.6715:0.3285	.	411	Q9HCE9	ANO8_HUMAN	D	411	ENSP00000159087:A411D	ENSP00000159087:A411D	A	-	2	0	ANO8	17301975	1.000000	0.71417	0.601000	0.28877	0.966000	0.64601	4.129000	0.57957	2.331000	0.79229	0.491000	0.48974	GCC		0.627	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1		XM_050644		26	78	1	0	4.7796e-09	0.004656	5.1121e-09	26	78		
ZNF461	92283	broad.mit.edu	37	19	37147421	37147421	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37147421A>G	ENST00000588268.1	-	4	388	c.161T>C	c.(160-162)gTa>gCa	p.V54A	ZNF461_ENST00000360357.4_Missense_Mutation_p.V54A	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V54A(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAGGAGATTACGGCTGGCTT	0.433																																						uc002oem.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(160-162)GTA>GCA		gonadotropin inducible transcription repressor							69.0	71.0	70.0					19																	37147421		2058	4226	6284	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37147421A>G	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.161T>C	19.37:g.37147421A>G	ENSP00000467931:p.Val54Ala					ZNF461_uc002oen.2_Missense_Mutation_p.V23A|ZNF461_uc010xtj.1_Missense_Mutation_p.V54A	p.V54A	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		4	389	-	Esophageal squamous(110;0.198)		54			KRAB.		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.161T>C	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771918	0.49680	.	.	ENSG00000197808	ENST00000396893;ENST00000360357	T	0.00864	5.6	3.27	3.27	0.37495	Krueppel-associated box (3);	.	.	.	.	T	0.01905	0.0060	M	0.64260	1.97	0.09310	N	1	P;B	0.43857	0.819;0.025	P;B	0.45474	0.482;0.023	T	0.44802	-0.9304	9	0.62326	D	0.03	.	8.1837	0.31326	1.0:0.0:0.0:0.0	.	54;54	B4DRP8;Q8TAF7	.;ZN461_HUMAN	A	54	ENSP00000353515:V54A	ENSP00000353515:V54A	V	-	2	0	ZNF461	41839261	0.624000	0.27102	0.091000	0.20842	0.922000	0.55478	1.882000	0.39648	1.495000	0.48549	0.477000	0.44152	GTA		0.433	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1		NM_153257		3	67	0	0	0	0.004672	0	3	67		
ZNF567	163081	broad.mit.edu	37	19	37210842	37210842	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37210842G>T	ENST00000536254.2	+	6	1438	c.1216G>T	c.(1216-1218)Gca>Tca	p.A406S	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.A375S|ZNF567_ENST00000588311.1_Missense_Mutation_p.A375S|ZNF567_ENST00000585696.1_Missense_Mutation_p.A375S|ZNF567_ENST00000360729.4_Missense_Mutation_p.A375S			Q8N184	ZN567_HUMAN	zinc finger protein 567	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A375S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACCAGAAGGCAAATCTTAC	0.433																																						uc010xtl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1216-1218)GCA>TCA		zinc finger protein 567							60.0	65.0	63.0					19																	37210842		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210842G>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1216G>T	19.37:g.37210842G>T	ENSP00000441838:p.Ala406Ser					ZNF567_uc002oeo.1_Missense_Mutation_p.A406S|ZNF567_uc010xtk.1_Missense_Mutation_p.A406S|ZNF567_uc002oep.3_Missense_Mutation_p.A375S|ZNF567_uc002oeq.1_Missense_Mutation_p.A375S	p.A406S	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1438	+	Esophageal squamous(110;0.198)		406			C2H2-type 7.		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1216G>T		.	.	.	.	.	.	.	.	.	.	G	2.797	-0.250091	0.05867	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.35973	3.19;3.19;1.28	4.85	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000633	T	0.14056	0.0340	N	0.00254	-1.765	0.09310	N	0.999999	B;P	0.46706	0.002;0.883	B;D	0.69307	0.007;0.963	T	0.48681	-0.9014	10	0.02654	T	1	.	3.6938	0.08357	0.1643:0.0:0.4561:0.3796	.	406;375	Q8N184;F8WEL6	ZN567_HUMAN;.	S	406;350;375;405;375	ENSP00000441838:A406S;ENSP00000353957:A375S;ENSP00000376003:A375S	ENSP00000353957:A375S	A	+	1	0	ZNF567	41902682	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.784000	0.04633	1.242000	0.43836	0.561000	0.74099	GCA		0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1		NM_152603		17	56	1	0	2.48551e-13	0.00499	2.68173e-13	17	56		
SULT2B1	6820	broad.mit.edu	37	19	49055556	49055556	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:49055556A>T	ENST00000201586.2	+	1	225	c.47A>T	c.(46-48)tAt>tTt	p.Y16F		NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	16					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)	p.Y16F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGGGACACCTATGAAGATGAC	0.672																																						uc002pjl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(46-48)TAT>TTT		sulfotransferase family, cytosolic, 2B, member 1							32.0	32.0	32.0					19																	49055556		2203	4300	6503	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49055556A>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.47A>T	19.37:g.49055556A>T	ENSP00000201586:p.Tyr16Phe						p.Y16F	NM_177973	NP_814444	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	1	128	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	16	Missing: Increases the cholesterol sulfotransferase activity.|Missing: Loss of the cholesterol sulfotransferase activity.				O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.47A>T	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750118	0.30955	.	.	ENSG00000088002	ENST00000201586	T	0.01388	4.95	3.77	-5.28	0.02755	.	2.785320	0.01912	U	0.039900	T	0.00936	0.0031	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.48422	-0.9037	10	0.30078	T	0.28	.	5.4473	0.16541	0.1995:0.4169:0.0:0.3836	.	16	O00204	ST2B1_HUMAN	F	16	ENSP00000201586:Y16F	ENSP00000201586:Y16F	Y	+	2	0	SULT2B1	53747368	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-0.750000	0.04808	-0.870000	0.04047	0.397000	0.26171	TAT		0.672	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1		NM_004605		18	34	0	0	0	0.010504	0	18	34		
KLK5	25818	broad.mit.edu	37	19	51453127	51453127	+	Missense_Mutation	SNP	C	C	T	rs369412139		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:51453127C>T	ENST00000336334.3	-	3	671	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.A107T|KLK5_ENST00000593428.1_Missense_Mutation_p.A107T|CTB-147C22.8_ENST00000601506.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	107	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A107T(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTGCAGTGGGCGGCCGTGAGC	0.657																																						uc002pue.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(319-321)GCC>ACC		kallikrein-related peptidase 5 preproprotein		C	THR/ALA,THR/ALA,THR/ALA	1,4405		0,1,2202	28.0	28.0	28.0		319,319,319	4.4	0.8	19		28	0,8600		0,0,4300	no	missense,missense,missense	KLK5	NM_001077491.1,NM_001077492.1,NM_012427.4	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	107/294,107/294,107/294	51453127	1,13005	2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453127C>T	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.319G>A	19.37:g.51453127C>T	ENSP00000337733:p.Ala107Thr					KLK5_uc002puf.2_Missense_Mutation_p.A107T|KLK5_uc002pug.2_Missense_Mutation_p.A107T	p.A107T	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	4	537	-		all_neural(266;0.026)	107			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.319G>A	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	c	24.5	4.532943	0.85812	2.27E-4	0.0	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.96940	-4.18;-4.18	4.4	4.4	0.53042	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33161	U	0.005209	D	0.98695	0.9562	H	0.97415	4	0.45852	D	0.998719	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	12.3262	0.55011	0.0:1.0:0.0:0.0	.	107	Q9Y337	KLK5_HUMAN	T	107	ENSP00000337733:A107T;ENSP00000375685:A107T	ENSP00000337733:A107T	A	-	1	0	KLK5	56144939	0.980000	0.34600	0.831000	0.32960	0.903000	0.53119	5.834000	0.69361	2.266000	0.75297	0.655000	0.94253	GCC		0.657	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1		NM_012427		40	11	0	0	0	0.010771	0	40	11		
PPP6R1	22870	broad.mit.edu	37	19	55758320	55758320	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:55758320G>A	ENST00000412770.2	-	2	718	c.152C>T	c.(151-153)cCa>cTa	p.P51L	PPP6R1_ENST00000587283.1_Missense_Mutation_p.P51L	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	51	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.P51L(1)		breast(1)	1						CAGGTGGGGTGGCTGCAGCAG	0.657																																						uc002qjw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(151-153)CCA>CTA		SAPS domain family, member 1							35.0	41.0	39.0					19																	55758320		2117	4230	6347	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55758320G>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.152C>T	19.37:g.55758320G>A	ENSP00000414202:p.Pro51Leu					SAPS1_uc002qjv.2_Missense_Mutation_p.P113L	p.P51L	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	394	-		Renal(1328;0.245)	51			Interaction with PPP6C.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.152C>T	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226204	0.79576	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.50277	0.75	4.64	3.53	0.40419	.	0.000000	0.64402	D	0.000018	T	0.59932	0.2230	M	0.88640	2.97	0.58432	D	0.999999	P	0.47253	0.892	P	0.47251	0.542	T	0.67783	-0.5581	10	0.44086	T	0.13	-34.5811	13.7358	0.62817	0.0:0.0:0.8455:0.1545	.	51	Q9UPN7	PP6R1_HUMAN	L	51	ENSP00000414202:P51L	ENSP00000414202:P51L	P	-	2	0	PPP6R1	60450132	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	4.311000	0.59147	2.582000	0.87167	0.561000	0.74099	CCA		0.657	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1		NM_014931		19	30	0	0	0	0.010504	0	19	30		
MYT1L	23040	broad.mit.edu	37	2	1983502	1983502	+	Silent	SNP	C	C	T	rs377141211		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:1983502C>T	ENST00000399161.2	-	6	795	c.48G>A	c.(46-48)ggG>ggA	p.G16G	MYT1L_ENST00000428368.2_Silent_p.G16G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	16					cell differentiation (GO:0030154)|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)|zinc ion binding (GO:0008270)	p.G16G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TACCTCGAACCCCTTTGGACC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		15966	0.0		0.001	False		,,,				2504	0.0					uc002qxe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|central_nervous_system(1)	6						c.(46-48)GGG>GGA		myelin transcription factor 1-like		C		0,4032		0,0,2016	52.0	59.0	57.0		48	3.1	1.0	2		57	3,8351		0,3,4174	no	coding-synonymous	MYT1L	NM_015025.2		0,3,6190	TT,TC,CC		0.0359,0.0,0.0242		16/1185	1983502	3,12383	2016	4177	6193	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1983502C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.48G>A	2.37:g.1983502C>T						MYT1L_uc002qxd.2_Silent_p.G16G|MYT1L_uc002qxf.1_RNA	p.G16G	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	6	875	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	16					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.48G>A																																																																																					0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		9	65	0	0	0	0.006214	0	9	65		
CTNNA2	1496	broad.mit.edu	37	2	79971689	79971689	+	Silent	SNP	A	A	T	rs200888828		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:79971689A>T	ENST00000402739.4	+	2	284	c.279A>T	c.(277-279)gtA>gtT	p.V93V	CTNNA2_ENST00000540488.1_Silent_p.V93V|CTNNA2_ENST00000466387.1_Silent_p.V93V|CTNNA2_ENST00000541047.1_Silent_p.V93V|CTNNA2_ENST00000496558.1_Silent_p.V93V|CTNNA2_ENST00000361291.4_Silent_p.V127V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	93					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.V93V(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGCTGCTGTAGAGGATGTGC	0.428																																						uc010ysh.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(277-279)GTA>GTT		catenin, alpha 2 isoform 1							85.0	90.0	89.0					2																	79971689		2022	4197	6219	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971689A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.279A>T	2.37:g.79971689A>T						CTNNA2_uc010yse.1_Silent_p.V93V|CTNNA2_uc010ysf.1_Silent_p.V93V|CTNNA2_uc010ysg.1_Silent_p.V93V	p.V93V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	284	+			93					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.279A>T																																																																																					0.428	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389		22	16	0	0	0	0.012319	0	22	16		
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:167162315C>T	ENST00000409435.1	-	4	582	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	SCN9A_ENST00000375387.4_Missense_Mutation_p.V196I|SCN9A_ENST00000409672.1_Missense_Mutation_p.V195I|SCN9A_ENST00000303354.6_Missense_Mutation_p.V196I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	195					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.V195I(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAACAATGACGACAAAATCC	0.398																																						uc010fpl.2		NaN																	2	Substitution - Missense(2)	p.V195I(1)	urinary_tract(1)|central_nervous_system(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(583-585)GTC>ATC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						74.0	72.0	73.0					2																	167162315		1856	4115	5971	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167162315C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.583G>A	2.37:g.167162315C>T	ENSP00000386330:p.Val195Ile					SCN9A_uc002udr.1_Missense_Mutation_p.V66I|SCN9A_uc002uds.1_Missense_Mutation_p.V66I|SCN9A_uc002udt.1_Missense_Mutation_p.V66I	p.V195I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			5	924	-			195			Helical; Name=S3 of repeat I; (Potential).|I.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.583G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	c	15.78	2.932998	0.52866	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	6.16	4.38	0.52667	Ion transport (1);	0.626925	0.14981	N	0.287256	D	0.98210	0.9408	L	0.42487	1.325	0.48901	D	0.999722	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.962;0.996;0.99	D	0.97493	1.0055	10	0.87932	D	0	.	13.154	0.59505	0.0:0.871:0.0:0.129	.	195;195;196	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	I	195;196;196;195;60;60	ENSP00000386306:V195I;ENSP00000364536:V196I;ENSP00000304748:V196I;ENSP00000386330:V195I;ENSP00000413212:V60I;ENSP00000393141:V60I	ENSP00000304748:V196I	V	-	1	0	SCN9A	166870561	1.000000	0.71417	0.674000	0.29902	0.060000	0.15804	7.818000	0.86416	0.936000	0.37367	-0.157000	0.13467	GTC		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977		27	69	0	0	0	0.00632	0	27	69		
DNAH7	56171	broad.mit.edu	37	2	196865506	196865506	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:196865506G>A	ENST00000312428.6	-	12	1375	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	DNAH7_ENST00000410072.1_Silent_p.I425I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	425	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.I425I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTTAGAAAGATATCTATAT	0.343																																						uc002utj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(10)|ovary(2)	12						c.(1273-1275)ATC>ATT		dynein, axonemal, heavy chain 7							142.0	142.0	142.0					2																	196865506		1824	4082	5906	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196865506G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1275C>T	2.37:g.196865506G>A							p.I425I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			12	1376	-			425			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.1275C>T	CCDS42794.1																																																																																				0.343	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		158	150	0	0	0	0.01441	0	158	150		
IKZF2	22807	broad.mit.edu	37	2	213872344	213872344	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:213872344C>A	ENST00000434687.1	-	9	1630	c.1321G>T	c.(1321-1323)Gtc>Ttc	p.V441F	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Missense_Mutation_p.V447F|IKZF2_ENST00000451136.2_Missense_Mutation_p.V369F|IKZF2_ENST00000374327.4_Missense_Mutation_p.V296F|IKZF2_ENST00000421754.2_Missense_Mutation_p.V367F|IKZF2_ENST00000374319.4_Missense_Mutation_p.V415F|IKZF2_ENST00000457361.1_Missense_Mutation_p.V441F|IKZF2_ENST00000413091.3_3'UTR			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	441					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V441F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAAGCTTTGACATCCTCCTTC	0.483																																						uc002vem.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1321-1323)GTC>TTC		helios isoform 1							205.0	198.0	201.0					2																	213872344		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872344C>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1321G>T	2.37:g.213872344C>A	ENSP00000412869:p.Val441Phe					IKZF2_uc010fuu.2_Missense_Mutation_p.V296F|IKZF2_uc002vej.2_Missense_Mutation_p.V388F|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.V367F|IKZF2_uc002vel.2_Missense_Mutation_p.V362F|IKZF2_uc010fuw.2_Missense_Mutation_p.V215F|IKZF2_uc010fux.2_Missense_Mutation_p.V215F|IKZF2_uc010fuy.2_Missense_Mutation_p.V369F|IKZF2_uc002ven.2_Missense_Mutation_p.V415F|IKZF2_uc002vei.2_Missense_Mutation_p.V219F	p.V441F	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1490	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	441					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.1321G>T	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	3.136	-0.177296	0.06380	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.14640	3.25;3.23;3.25;3.29;3.26;3.36;2.49	6.11	5.23	0.72850	.	0.421766	0.23237	N	0.050383	T	0.06234	0.0161	N	0.02539	-0.55	0.80722	D	1	P;B;P;B;P;B	0.46277	0.528;0.168;0.875;0.035;0.661;0.019	B;B;B;B;B;B	0.44315	0.155;0.116;0.446;0.091;0.248;0.016	T	0.41413	-0.9510	10	0.34782	T	0.22	-0.7435	6.6235	0.22816	0.1366:0.6647:0.1313:0.0675	.	369;367;296;415;441;219	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	F	441;447;441;415;369;367;296;145	ENSP00000410447:V441F;ENSP00000342876:V447F;ENSP00000412869:V441F;ENSP00000363439:V415F;ENSP00000395203:V369F;ENSP00000399574:V367F;ENSP00000363447:V296F	ENSP00000342876:V447F	V	-	1	0	IKZF2	213580589	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	0.794000	0.26958	1.581000	0.49865	0.655000	0.94253	GTC		0.483	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3		NM_016260		9	63	1	0	1.12685e-05	0.004482	1.18464e-05	9	63		
IFNGR2	3460	broad.mit.edu	37	21	34805103	34805103	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:34805103C>A	ENST00000290219.6	+	6	1452	c.804C>A	c.(802-804)ttC>ttA	p.F268L	IFNGR2_ENST00000405436.1_Missense_Mutation_p.F189L|IFNGR2_ENST00000381995.1_Missense_Mutation_p.F287L	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	268					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)	p.F268L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCTGTTTCTTCCTGGTCCTGA	0.468																																						uc002yrp.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(802-804)TTC>TTA		interferon gamma receptor 2 precursor	Interferon gamma-1b(DB00033)						115.0	110.0	112.0					21																	34805103		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34805103C>A		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.804C>A	21.37:g.34805103C>A	ENSP00000290219:p.Phe268Leu					IFNGR2_uc002yrq.3_Missense_Mutation_p.F287L|IFNGR2_uc010gma.2_Missense_Mutation_p.F189L|IFNGR2_uc002yrr.3_Missense_Mutation_p.F189L|TMEM50B_uc002yrs.1_RNA	p.F268L	NM_005534	NP_005525	P38484	INGR2_HUMAN			6	1452	+			268			Helical; (Potential).		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.804C>A	CCDS33544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.32|15.32	2.799410|2.799410	0.50208|0.50208	.|.	.|.	ENSG00000159128|ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436|ENST00000421802	T;T;T|.	0.70282|.	0.69;0.69;-0.47|.	5.53|5.53	2.45|2.45	0.29901|0.29901	.|.	.|.	.|.	.|.	.|.	T|T	0.53302|0.53302	0.1788|0.1788	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.007|.	B;B|.	0.13407|.	0.009;0.007|.	T|T	0.50432|0.50432	-0.8829|-0.8829	9|5	0.02654|.	T|.	1|.	-17.0128|-17.0128	4.1058|4.1058	0.10037|0.10037	0.0:0.5887:0.1936:0.2177|0.0:0.5887:0.1936:0.2177	.|.	287;268|.	E7EUY1;P38484|.	.;INGR2_HUMAN|.	L|Y	268;287;189|34	ENSP00000290219:F268L;ENSP00000371425:F287L;ENSP00000385044:F189L|.	ENSP00000290219:F268L|.	F|S	+|+	3|2	2|0	IFNGR2|IFNGR2	33726973|33726973	0.096000|0.096000	0.21769|0.21769	0.994000|0.994000	0.49952|0.49952	0.933000|0.933000	0.57130|0.57130	-0.022000|-0.022000	0.12480|0.12480	1.391000|1.391000	0.46566|0.46566	0.563000|0.563000	0.77884|0.77884	TTC|TCC		0.468	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1				45	85	1	0	1.62957e-23	0.00874	1.82216e-23	45	85		
SLC19A1	6573	broad.mit.edu	37	21	46951334	46951334	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:46951334G>A	ENST00000311124.4	-	3	1070	c.918C>T	c.(916-918)aaC>aaT	p.N306N	SLC19A1_ENST00000567670.1_Silent_p.N306N|SLC19A1_ENST00000485649.2_Silent_p.N266N|SLC19A1_ENST00000380010.4_Silent_p.N306N	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	306					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)	p.N53N(1)|p.N306N(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CTGCCGCGCCGTTGTAGACCC	0.662																																						uc002zhl.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(916-918)AAC>AAT		solute carrier family 19 member 1							51.0	57.0	55.0					21																	46951334		2203	4300	6503	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951334G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.918C>T	21.37:g.46951334G>A						SLC19A1_uc010gpy.1_Silent_p.N306N|SLC19A1_uc011aft.1_Silent_p.N266N|SLC19A1_uc002zhm.1_Silent_p.N306N|SLC19A1_uc010gpz.1_Silent_p.N185N	p.N306N	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	1037	-			306			Extracellular (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.918C>T	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	g	1.148	-0.647633	0.03506	.	.	ENSG00000173638	ENST00000417954	.	.	.	4.33	0.307	0.15811	.	.	.	.	.	T	0.54711	0.1875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44205	-0.9343	4	.	.	.	-35.46	8.2231	0.31554	0.4283:0.0:0.5717:0.0	.	.	.	.	M	41	.	.	T	-	2	0	SLC19A1	45775762	0.912000	0.30974	0.929000	0.37066	0.017000	0.09413	0.001000	0.13038	-0.162000	0.10964	-0.698000	0.03680	ACG		0.662	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1				34	103	0	0	0	0.004878	0	34	103		
C22orf24	25775	broad.mit.edu	37	22	32334024	32334024	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:32334024A>G	ENST00000248984.3	-	2	195	c.29T>C	c.(28-30)cTg>cCg	p.L10P	C22orf24_ENST00000486651.1_5'UTR|C22orf24_ENST00000543051.1_Missense_Mutation_p.L77P	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	10						integral component of membrane (GO:0016021)		p.L10P(2)		central_nervous_system(1)|urinary_tract(1)	2						CTTTTGATGCAGCCCTGTTGT	0.453																																						uc003aly.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(28-30)CTG>CCG		hypothetical protein LOC25775							231.0	238.0	236.0					22																	32334024		2000	4175	6175	SO:0001583	missense	25775					integral to membrane		g.chr22:32334024A>G		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.29T>C	22.37:g.32334024A>G	ENSP00000248984:p.Leu10Pro					C22orf24_uc003alx.2_RNA	p.L10P	NM_015372	NP_056187	Q9Y442	CV024_HUMAN			2	196	-			10					B2RCT4|Q5K3R1	Missense_Mutation	SNP	ENST00000248984.3	37	c.29T>C	CCDS46693.1	.	.	.	.	.	.	.	.	.	.	A	5.210	0.224325	0.09863	.	.	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.44881	0.91;0.91	3.8	2.74	0.32292	.	0.843825	0.09892	N	0.742246	T	0.29976	0.0750	N	0.08118	0	0.09310	N	0.999996	D	0.55605	0.972	P	0.49085	0.6	T	0.12091	-1.0561	10	0.87932	D	0	.	7.2281	0.26026	0.7723:0.2277:0.0:0.0	.	10	Q9Y442	CV024_HUMAN	P	10;77	ENSP00000248984:L10P;ENSP00000437643:L77P	ENSP00000248984:L10P	L	-	2	0	C22orf24	30664024	0.107000	0.21998	0.016000	0.15963	0.050000	0.14768	0.856000	0.27818	0.785000	0.33685	0.533000	0.62120	CTG		0.453	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2		NM_015372		124	348	0	0	0	0.01441	0	124	348		
TST	7263	broad.mit.edu	37	22	37414345	37414345	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:37414345G>A	ENST00000403892.3	-	1	1163	c.429C>T	c.(427-429)tcC>tcT	p.S143S	MPST_ENST00000404393.1_5'Flank|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000341116.3_5'Flank|MPST_ENST00000404802.3_5'Flank|TST_ENST00000249042.3_Silent_p.S143S|MPST_ENST00000429360.2_5'Flank|MPST_ENST00000397129.1_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	143	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)	p.S143S(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GTGAGGGCTCGGATGTCACCG	0.607																																						uc003aqg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(427-429)TCC>TCT		thiosulfate sulfurtransferase							77.0	67.0	71.0					22																	37414345		2203	4300	6503	SO:0001819	synonymous_variant	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37414345G>A	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.429C>T	22.37:g.37414345G>A						TST_uc003aqh.2_Silent_p.S143S|MPST_uc003aqi.1_5'Flank|MPST_uc003aqj.2_5'Flank|MPST_uc003aqm.2_5'Flank|MPST_uc011amu.1_5'Flank|MPST_uc003aql.2_5'Flank	p.S143S	NM_003312	NP_003303	Q16762	THTR_HUMAN			1	1129	-			143			Rhodanese 1.		B3KRM1|Q6IB06	Silent	SNP	ENST00000403892.3	37	c.429C>T	CCDS13938.1																																																																																				0.607	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1				25	71	0	0	0	0.00278	0	25	71		
HRH1	3269	broad.mit.edu	37	3	11301151	11301151	+	Missense_Mutation	SNP	G	G	A	rs181783018	byFrequency	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:11301151G>A	ENST00000397056.1	+	3	619	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	HRH1_ENST00000431010.2_Missense_Mutation_p.R143Q|HRH1_ENST00000438284.2_Missense_Mutation_p.R143Q	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	143					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.R143Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCAAGACCCGAGCCTCGGCC	0.552													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17740	0.0		0.0	False		,,,				2504	0.0					uc010hdr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(427-429)CGA>CAA		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						90.0	95.0	93.0					3																	11301151		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301151G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.428G>A	3.37:g.11301151G>A	ENSP00000380247:p.Arg143Gln					HRH1_uc010hds.2_Missense_Mutation_p.R143Q|HRH1_uc010hdt.2_Missense_Mutation_p.R143Q|HRH1_uc003bwb.3_Missense_Mutation_p.R143Q	p.R143Q	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	770	+			143			Cytoplasmic (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.428G>A	CCDS2604.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	22.0	4.232184	0.79688	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.40476	1.03;1.03;1.03	5.87	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.119417	0.53938	D	0.000055	T	0.66934	0.2840	M	0.87547	2.89	0.51767	D	0.999933	D	0.89917	1.0	D	0.74023	0.982	T	0.71981	-0.4428	10	0.87932	D	0	-7.3717	12.4029	0.55422	0.1364:0.0:0.8636:0.0	.	143	P35367	HRH1_HUMAN	Q	143	ENSP00000406705:R143Q;ENSP00000397028:R143Q;ENSP00000380247:R143Q	ENSP00000380247:R143Q	R	+	2	0	HRH1	11276151	0.994000	0.37717	0.964000	0.40570	0.985000	0.73830	4.337000	0.59310	0.815000	0.34398	0.655000	0.94253	CGA		0.552	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2				51	187	0	0	0	0.01441	0	51	187		
PRKCD	5580	broad.mit.edu	37	3	53213624	53213624	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:53213624G>A	ENST00000394729.2	+	3	475	c.147G>A	c.(145-147)ccG>ccA	p.P49P	PRKCD_ENST00000330452.3_Silent_p.P49P	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	49	C2.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.P49P(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGAAGAAGCCGACCATGTATC	0.592																																						uc003dgl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(145-147)CCG>CCA		protein kinase C, delta							88.0	77.0	81.0					3																	53213624		2203	4300	6503	SO:0001819	synonymous_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53213624G>A		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.147G>A	3.37:g.53213624G>A						PRKCD_uc003dgm.2_Silent_p.P49P|PRKCD_uc003dgn.2_Silent_p.P49P	p.P49P	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	4	500	+		Ovarian(412;0.0728)	49			C2.		B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	c.147G>A	CCDS2870.1																																																																																				0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1				20	43	0	0	0	0.010504	0	20	43		
ATXN7	6314	broad.mit.edu	37	3	63985136	63985136	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:63985136G>A	ENST00000295900.6	+	13	3222	c.2672G>A	c.(2671-2673)cGt>cAt	p.R891H	ATXN7_ENST00000484332.1_Missense_Mutation_p.R746H|ATXN7_ENST00000487717.1_Missense_Mutation_p.R891H|ATXN7_ENST00000398590.3_Silent_p.T913T|ATXN7_ENST00000538065.1_Silent_p.T913T	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	891				PKARP -> VGNGL (in Ref. 2; AAC39765/ AAC19163). {ECO:0000305}.	cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R891H(1)|p.T913T(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAAAGGCACGTCCCTGACAG	0.448																																						uc003dlw.3		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(2)		0						c.(2671-2673)CGT>CAT		ataxin 7 isoform a							93.0	86.0	88.0					3																	63985136		1919	4130	6049	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63985136G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2672G>A	3.37:g.63985136G>A	ENSP00000295900:p.Arg891His					ATXN7_uc010hnv.2_Silent_p.T913T|ATXN7_uc011bfn.1_Missense_Mutation_p.R746H	p.R891H	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	13	3225	+		Prostate(884;0.0181)	891	PKARP -> VGNGL (in Ref. 2; AAC39765/ AAC19163).				B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.2672G>A	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077532	0.55753	.	.	ENSG00000163635	ENST00000295900;ENST00000487717;ENST00000484332	T;T;T	0.31247	1.55;1.55;1.5	5.41	3.63	0.41609	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.80722	D	1	B;B	0.25809	0.033;0.135	B;B	0.17722	0.012;0.019	T	0.05178	-1.0901	8	0.72032	D	0.01	-5.9136	11.8032	0.52139	0.1419:0.0:0.8581:0.0	.	746;891	E9PHP9;O15265	.;ATX7_HUMAN	H	891;891;746	ENSP00000295900:R891H;ENSP00000420234:R891H;ENSP00000428277:R746H	ENSP00000295900:R891H	R	+	2	0	ATXN7	63960176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.314000	0.65804	0.674000	0.31244	0.655000	0.94253	CGT		0.448	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1		NM_000333		16	26	0	0	0	0.00499	0	16	26		
CD200	4345	broad.mit.edu	37	3	112054803	112054803	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:112054803C>A	ENST00000473539.1	+	2	83	c.26C>A	c.(25-27)aCa>aAa	p.T9K	CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron|CD200_ENST00000607516.1_3'UTR	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T9K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CTGACCAGGACAATTGGGGGC	0.458																																						uc003dyw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(25-27)ACA>AAA		CD200 antigen isoform b							141.0	147.0	145.0					3																	112054803		2203	4300	6503	SO:0001583	missense	4345				regulation of immune response	integral to plasma membrane		g.chr3:112054803C>A		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000473539.1:c.26C>A	3.37:g.112054803C>A	ENSP00000420298:p.Thr9Lys					CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	p.T9K	NM_001004196	NP_001004196	P41217	OX2G_HUMAN			2	170	+		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)	Error:Variant_position_missing_in_P41217_after_alignment					B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000473539.1	37	c.26C>A	CCDS33818.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269607	0.40095	.	.	ENSG00000091972	ENST00000473539	T	0.71103	-0.54	2.29	2.29	0.28610	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.21967	N	0.999449	P	0.45078	0.85	B	0.34931	0.192	T	0.52094	-0.8621	8	0.87932	D	0	.	8.1455	0.31108	0.0:1.0:0.0:0.0	.	9	P41217-3	.	K	9	ENSP00000420298:T9K	ENSP00000420298:T9K	T	+	2	0	CD200	113537493	0.006000	0.16342	0.011000	0.14972	0.112000	0.19704	1.369000	0.34227	1.577000	0.49804	0.609000	0.83330	ACA		0.458	CD200-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354079.1				27	116	1	0	8.58068e-18	0.007291	9.42343e-18	27	116		
C3orf30	152405	broad.mit.edu	37	3	118865565	118865565	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:118865565C>G	ENST00000295622.1	+	1	569	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	177								p.Q177E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGTTCCAGACAGACCGACCA	0.527																																						uc003ecb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(529-531)CAG>GAG		hypothetical protein LOC152405							71.0	73.0	72.0					3																	118865565		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865565C>G	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.529C>G	3.37:g.118865565C>G	ENSP00000295622:p.Gln177Glu					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Q177E	p.Q177E	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	569	+			177					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.529C>G	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.66|12.66	2.003977|2.003977	0.35320|0.35320	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	T|.	0.26518|.	1.73|.	2.5|2.5	2.5|2.5	0.30297|0.30297	.|.	0.860857|.	0.09910|.	N|.	0.739895|.	T|T	0.32071|0.32071	0.0817|0.0817	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.60609|.	0.877;0.877|.	T|T	0.19582|0.19582	-1.0301|-1.0301	10|5	0.21540|.	T|.	0.41|.	-1.2613|-1.2613	11.1299|11.1299	0.48341|0.48341	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	177;177|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	E|R	177|140	ENSP00000295622:Q177E|.	ENSP00000295622:Q177E|.	Q|T	+|+	1|2	0|0	C3orf30|C3orf30	120348255|120348255	0.009000|0.009000	0.17119|0.17119	0.002000|0.002000	0.10522|0.10522	0.009000|0.009000	0.06853|0.06853	1.344000|1.344000	0.33941|0.33941	1.701000|1.701000	0.51217|0.51217	0.514000|0.514000	0.50259|0.50259	CAG|ACA		0.527	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1		NM_152539		38	79	0	0	0	0.01441	0	38	79		
SI	6476	broad.mit.edu	37	3	164786928	164786928	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:164786928G>C	ENST00000264382.3	-	4	373	c.311C>G	c.(310-312)cCt>cGt	p.P104R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	104	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P104R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAAGCACCAAGGAATAAGAGA	0.343										HNSCC(35;0.089)																												uc003fei.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(310-312)CCT>CGT		sucrase-isomaltase	Acarbose(DB00284)						67.0	66.0	66.0					3																	164786928		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786928G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.311C>G	3.37:g.164786928G>C	ENSP00000264382:p.Pro104Arg	HNSCC(35;0.089)					p.P104R	NM_001041	NP_001032	P14410	SUIS_HUMAN			4	373	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	104			Lumenal.|P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.311C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148185	0.78001	.	.	ENSG00000090402	ENST00000264382	T	0.59772	0.24	5.81	5.81	0.92471	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.098954	0.64402	D	0.000001	D	0.83381	0.5242	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87448	0.2399	10	0.87932	D	0	.	18.2587	0.90026	0.0:0.0:1.0:0.0	.	104	P14410	SUIS_HUMAN	R	104	ENSP00000264382:P104R	ENSP00000264382:P104R	P	-	2	0	SI	166269622	1.000000	0.71417	0.980000	0.43619	0.496000	0.33645	8.056000	0.89455	2.746000	0.94184	0.655000	0.94253	CCT		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041		34	71	0	0	0	0.012213	0	34	71		
EIF4A2	1974	broad.mit.edu	37	3	186501413	186501413	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:186501413C>T	ENST00000323963.5	+	1	78	c.14C>T	c.(13-15)tCc>tTc	p.S5F	SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.S5F|SNORA63_ENST00000363548.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	5					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.S5F(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCTGGTGGCTCCGCGGATTAT	0.562			T	BCL6	NHL																																	uc003fqs.2		NaN		Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)	4						c.(13-15)TCC>TTC		eukaryotic translation initiation factor 4A2							136.0	140.0	139.0					3																	186501413		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186501413C>T	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.14C>T	3.37:g.186501413C>T	ENSP00000326381:p.Ser5Phe					EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.S5F|EIF4A2_uc003fqv.2_5'UTR|EIF4A2_uc003fqw.2_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.1_5'Flank	p.S5F	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	1	53	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		5					D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.14C>T	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556187	0.65425	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.33438	1.41;1.61;1.59	4.48	4.48	0.54585	.	0.481365	0.21567	N	0.072465	T	0.28366	0.0701	L	0.44542	1.39	0.80722	D	1	B;B	0.29301	0.191;0.241	B;B	0.27608	0.059;0.081	T	0.09487	-1.0672	10	0.49607	T	0.09	-26.3826	15.0416	0.71796	0.0:1.0:0.0:0.0	.	5;5	Q14240-2;Q14240	.;IF4A2_HUMAN	F	5	ENSP00000415878:S5F;ENSP00000326381:S5F;ENSP00000398370:S5F	ENSP00000326381:S5F	S	+	2	0	EIF4A2	187984107	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	6.933000	0.75874	2.475000	0.83589	0.563000	0.77884	TCC		0.562	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1		NM_001967		81	184	0	0	0	0.01441	0	81	184		
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc011bto.1		NaN																	10	Substitution - Missense(10)		kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)		0						c.(12229-12231)CAC>CAG		mucin 4 isoform a							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.H4077Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12691	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12231C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		9	7	0	0	0	0.008291	0	9	7		
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A	rs577495599	byFrequency	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195511815G>A	ENST00000463781.3	-	2	7095	c.6636C>T	c.(6634-6636)acC>acT	p.T2212T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2212T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T2212T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602													.|||	116	0.0231629	0.0257	0.0187	5008	,	,		15703	0.0		0.0497	False		,,,				2504	0.0194					uc011bto.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(6634-6636)ACC>ACT		mucin 4 isoform a							38.0	31.0	33.0					3																	195511815		690	1590	2280	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511815G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6636C>T	3.37:g.195511815G>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.T2212T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7096	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6636C>T	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		3	5	0	0	0	0.004672	0	3	5		
RGS12	6002	broad.mit.edu	37	4	3425321	3425321	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:3425321G>A	ENST00000344733.5	+	13	4091	c.3187G>A	c.(3187-3189)Gtg>Atg	p.V1063M	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.V1063M|RGS12_ENST00000306648.7_Missense_Mutation_p.V461M|RGS12_ENST00000382788.3_Missense_Mutation_p.V1063M|RGS12_ENST00000338806.4_Missense_Mutation_p.V415M|RGS12_ENST00000538395.1_Missense_Mutation_p.V405M	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1063	RBD 2. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.V1063M(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCGGCCCGTGGTGGCCAG	0.632																																						uc003ggw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(3187-3189)GTG>ATG		regulator of G-protein signalling 12 isoform 1							58.0	49.0	52.0					4																	3425321		2200	4298	6498	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3425321G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3187G>A	4.37:g.3425321G>A	ENSP00000339381:p.Val1063Met					RGS12_uc003ggv.2_Missense_Mutation_p.V1063M|RGS12_uc003ggy.1_Missense_Mutation_p.V461M|RGS12_uc003ggz.2_Missense_Mutation_p.V415M|RGS12_uc010icu.1_Missense_Mutation_p.V262M|RGS12_uc011bvs.1_Missense_Mutation_p.V405M|RGS12_uc003gha.2_Missense_Mutation_p.V405M|RGS12_uc010icv.2_Missense_Mutation_p.V262M|RGS12_uc003ghb.2_Missense_Mutation_p.V262M	p.V1063M	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	4091	+			1063			RBD 2.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3187G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970972	0.53614	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.54866	0.84;0.84;0.84;0.6;0.55;0.64	4.55	4.55	0.56014	Raf-like Ras-binding (3);	0.000000	0.64402	D	0.000001	T	0.68577	0.3016	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.974;1.0;1.0;1.0	T	0.72629	-0.4235	10	0.87932	D	0	-29.4596	16.7016	0.85350	0.0:0.0:1.0:0.0	.	405;262;262;405;415;461;1063;1063	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	M	1063;1063;1063;461;415;405	ENSP00000339381:V1063M;ENSP00000338509:V1063M;ENSP00000372238:V1063M;ENSP00000304459:V461M;ENSP00000342133:V415M;ENSP00000438888:V405M	ENSP00000304459:V461M	V	+	1	0	RGS12	3395119	1.000000	0.71417	0.965000	0.40720	0.157000	0.22087	6.059000	0.71133	2.263000	0.75096	0.563000	0.77884	GTG		0.632	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926		35	93	0	0	0	0.004289	0	35	93		
TMPRSS11F	389208	broad.mit.edu	37	4	68964665	68964665	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:68964665A>G	ENST00000356291.2	-	2	162	c.103T>C	c.(103-105)Tta>Cta	p.L35L		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	35						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L35L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACAATTGCTAATGTGAAAAGA	0.388																																						uc003hdt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(103-105)TTA>CTA		transmembrane protease, serine 11F							130.0	117.0	121.0					4																	68964665		2203	4300	6503	SO:0001819	synonymous_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68964665A>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.103T>C	4.37:g.68964665A>G							p.L35L	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			2	152	-			35			Helical; Signal-anchor for type II membrane protein; (Potential).		A8MXX2	Silent	SNP	ENST00000356291.2	37	c.103T>C	CCDS3520.1																																																																																				0.388	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1		NM_207407		3	14	0	0	0	0.004672	0	3	14		
FRAS1	80144	broad.mit.edu	37	4	79429990	79429990	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:79429990C>T	ENST00000264895.6	+	63	10050	c.9610C>T	c.(9610-9612)Cct>Tct	p.P3204S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3200					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.P3204S(1)|p.P3205S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCCTGCGACCCTCATTTCCC	0.567																																						uc003hlb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(5)	5						c.(9610-9612)CCT>TCT		Fraser syndrome 1							52.0	56.0	55.0					4																	79429990		2034	4214	6248	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79429990C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9610C>T	4.37:g.79429990C>T	ENSP00000264895:p.Pro3204Ser					FRAS1_uc003hlc.1_Missense_Mutation_p.P206S	p.P3204S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			63	10050	+			3199			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.9610C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.498402|2.498402	0.44455|0.44455	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.78924	.|-1.22	5.63|5.63	3.92|3.92	0.45320|0.45320	.|.	0.180537|0.180537	0.49305|0.49305	D|N	0.000143|0.000143	T|T	0.80314|0.80314	0.4600|0.4600	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|P;P	.|0.39520	.|0.669;0.676	.|B;B	.|0.41571	.|0.36;0.197	T|T	0.80308|0.80308	-0.1437|-0.1437	6|10	.|0.56958	.|D	.|0.05	.|.	12.2882|12.2882	0.54803|0.54803	0.0:0.8638:0.0:0.1362|0.0:0.8638:0.0:0.1362	.|.	.|3203;3204	.|Q86XX4-2;E9PHH6	.|.;.	L|S	1432|3204	.|ENSP00000264895:P3204S	.|ENSP00000264895:P3204S	P|P	+|+	2|1	0|0	FRAS1|FRAS1	79649014|79649014	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.750000|0.750000	0.42670|0.42670	2.657000|2.657000	0.46724|0.46724	0.737000|0.737000	0.32582|0.32582	0.591000|0.591000	0.81541|0.81541	CCC|CCT		0.567	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					11	15	0	0	0	0.008291	0	11	15		
TRMT10A	93587	broad.mit.edu	37	4	100479211	100479211	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:100479211A>G	ENST00000273962.3	-	3	655	c.343T>C	c.(343-345)Tta>Cta	p.L115L	TRMT10A_ENST00000394876.2_Silent_p.L115L|TRMT10A_ENST00000394877.3_Silent_p.L115L	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	115	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.L115L(1)									GATACCTTTAATACCATCAAG	0.328																																						uc003huy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(343-345)TTA>CTA		RNA (guanine-9-) methyltransferase domain							140.0	117.0	125.0					4																	100479211		2202	4300	6502	SO:0001819	synonymous_variant	93587						methyltransferase activity	g.chr4:100479211A>G	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.343T>C	4.37:g.100479211A>G						RG9MTD2_uc003huz.3_Silent_p.L115L|RG9MTD2_uc003hva.3_Silent_p.L115L	p.L115L	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)	3	656	-			115					B2R8X7|Q9Y2T9	Silent	SNP	ENST00000273962.3	37	c.343T>C	CCDS3650.1																																																																																				0.328	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1		NM_152292		10	18	0	0	0	0.001855	0	10	18		
UGT8	7368	broad.mit.edu	37	4	115597250	115597250	+	Missense_Mutation	SNP	G	G	T	rs77695673		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:115597250G>T	ENST00000310836.6	+	6	1954	c.1432G>T	c.(1432-1434)Gcc>Tcc	p.A478S	UGT8_ENST00000394511.3_Missense_Mutation_p.A478S	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	478					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.A478S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ACTGGATATTGCCTTTGTGCT	0.373																																						uc003ibs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1432-1434)GCC>TCC		UDP-galactose-ceramide galactosyltransferase 8							190.0	164.0	173.0					4																	115597250		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115597250G>T	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1432G>T	4.37:g.115597250G>T	ENSP00000311648:p.Ala478Ser					UGT8_uc003ibt.2_Missense_Mutation_p.A478S|UGT8_uc011cge.1_RNA	p.A478S	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	6	1954	+		Ovarian(17;0.156)	478			Helical; (Potential).		B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.1432G>T	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247948	0.59103	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.59638	0.25;0.25	5.66	5.66	0.87406	.	0.475898	0.25520	N	0.030101	T	0.52451	0.1735	N	0.25992	0.78	0.50467	D	0.999874	P	0.37548	0.599	B	0.39706	0.307	T	0.57400	-0.7818	10	0.87932	D	0	.	19.7308	0.96181	0.0:0.0:1.0:0.0	.	478	Q16880	CGT_HUMAN	S	478	ENSP00000311648:A478S;ENSP00000378019:A478S	ENSP00000311648:A478S	A	+	1	0	UGT8	115816699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.651000	0.54431	2.666000	0.90696	0.561000	0.74099	GCC		0.373	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2		NM_003360		50	83	1	0	7.34454e-26	0.01441	8.28788e-26	50	83		
SRD5A1	6715	broad.mit.edu	37	5	6633926	6633926	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:6633926C>T	ENST00000274192.5	+	1	471	c.237C>T	c.(235-237)ctC>ctT	p.L79L	NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.S88F|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.S88F|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000504286.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	79					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.L79L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	CCCCGCGTCTCCGCAGCGCGC	0.736																																						uc003jdw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(235-237)CTC>CTT		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)						22.0	23.0	23.0					5																	6633926		2175	4267	6442	SO:0001819	synonymous_variant	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6633926C>T	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.237C>T	5.37:g.6633926C>T						NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.S88F	p.L79L	NM_001047	NP_001038	P18405	S5A1_HUMAN			1	427	+			79					B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	c.237C>T	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068815	0.20147	.	.	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.20332	2.08	3.76	-0.442	0.12253	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.09310	N	1	P	0.49635	0.926	P	0.44860	0.462	T	0.27468	-1.0073	8	0.87932	D	0	-8.1224	14.1118	0.65126	0.0:0.4503:0.5497:0.0	.	88	F5GXK9	.	F	88	ENSP00000440186:S88F	ENSP00000446275:S88F	S	+	2	0	SRD5A1	6686926	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-1.804000	0.01738	-0.035000	0.13691	0.643000	0.83706	TCC		0.736	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1		NM_001047		16	157	0	0	0	0.006122	0	16	157		
MARVELD2	153562	broad.mit.edu	37	5	68737477	68737477	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:68737477C>G	ENST00000325631.5	+	7	1747	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	MARVELD2_ENST00000413223.2_Missense_Mutation_p.S442C	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	558					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)		p.S558C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAAGGTTATTCTTAACGCTTA	0.308																																						uc003jwq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1672-1674)TCT>TGT		MARVEL domain containing 2 isoform 1							49.0	52.0	51.0					5																	68737477		2184	4293	6477	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68737477C>G	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1673C>G	5.37:g.68737477C>G	ENSP00000323264:p.Ser558Cys					MARVELD2_uc010ixf.2_Missense_Mutation_p.S546C|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA	p.S558C	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	7	1732	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	558			Cytoplasmic (Potential).		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.1673C>G	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603390	0.46423	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000436532;ENST00000413223	T;T;T;T	0.50813	1.31;0.73;1.35;1.35	5.56	4.67	0.58626	.	0.826947	0.11730	N	0.535011	T	0.54159	0.1841	L	0.44542	1.39	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.56216	0.794;0.781	T	0.44390	-0.9331	10	0.87932	D	0	-42.7183	10.2352	0.43280	0.1533:0.6988:0.1479:0.0	.	546;558	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	C	558;546;442;442	ENSP00000323264:S558C;ENSP00000396244:S546C;ENSP00000414776:S442C;ENSP00000398922:S442C	ENSP00000323264:S558C	S	+	2	0	MARVELD2	68773233	0.956000	0.32656	0.495000	0.27527	0.812000	0.45895	1.326000	0.33735	1.295000	0.44724	0.650000	0.86243	TCT		0.308	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1		NM_144724		24	34	0	0	0	0.004656	0	24	34		
PDGFRB	5159	broad.mit.edu	37	5	149515232	149515232	+	Missense_Mutation	SNP	C	C	T	rs80162387		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:149515232C>T	ENST00000261799.4	-	3	719	c.250G>A	c.(250-252)Gtg>Atg	p.V84M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	84	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.V84M(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGTGAGCACGCTGGAGAAG	0.597			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		20010	0.001		0.0	False		,,,				2504	0.0					uc003lro.2		NaN		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(250-252)GTG>ATG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	101.0	89.0	93.0		250	-5.7	0.0	5	dbSNP_131	93	0,8600		0,0,4300	yes	missense	PDGFRB	NM_002609.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	84/1107	149515232	1,13005	2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149515232C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.250G>A	5.37:g.149515232C>T	ENSP00000261799:p.Val84Met					PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.V84M	p.V84M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	719	-		all_hematologic(541;0.224)	84			Extracellular (Potential).|Ig-like C2-type 1.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.250G>A	CCDS4303.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.214	0.596054	0.13875	2.27E-4	0.0	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	T;T;T	0.44482	2.02;0.92;2.02	5.36	-5.7	0.02421	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.618420	0.03219	N	0.177259	T	0.30008	0.0751	L	0.47016	1.485	0.09310	N	1	P;B	0.42375	0.778;0.1	B;B	0.32342	0.144;0.041	T	0.45086	-0.9285	10	0.59425	D	0.04	.	8.1212	0.30971	0.0:0.4411:0.119:0.4399	.	84;84	B5A957;P09619	.;PGFRB_HUMAN	M	84;20;84	ENSP00000261799:V84M;ENSP00000429218:V20M;ENSP00000430715:V84M	ENSP00000261799:V84M	V	-	1	0	PDGFRB	149495425	0.003000	0.15002	0.000000	0.03702	0.039000	0.13416	-0.185000	0.09684	-1.376000	0.02126	-0.424000	0.05967	GTG		0.597	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1		NM_002609		8	102	0	0	0	0.004482	0	8	102		
FAM136BP	387071	broad.mit.edu	37	6	3045879	3045879	+	IGR	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:3045879G>A								RP1-90J20.11 (18220 upstream) : RP1-40E16.2 (10244 downstream)														p.D88N(1)									GCATTGCAATGACAAAGCCAA	0.547																																						uc011dhr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(262-264)GAC>AAC		hypothetical protein LOC387071							57.0	47.0	50.0					6																	3045879		692	1591	2283	SO:0001628	intergenic_variant	387071							g.chr6:3045879G>A																													6.37:g.3045879G>A							p.D88N	NM_001012983	NP_001013001					1	262	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)							Missense_Mutation	SNP		37	c.262G>A																																																																																				0	0.547										41	106	0	0	0	0.009718	0	41	106		
KIF13A	63971	broad.mit.edu	37	6	17777555	17777555	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:17777555T>C	ENST00000259711.6	-	34	4228	c.4123A>G	c.(4123-4125)Aaa>Gaa	p.K1375E	KIF13A_ENST00000378814.5_Missense_Mutation_p.K1362E|KIF13A_ENST00000378843.2_Missense_Mutation_p.K1362E|KIF13A_ENST00000378826.2_Missense_Mutation_p.K1375E|KIF13A_ENST00000378816.5_Missense_Mutation_p.K1375E	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1375					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1375E(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGCCGGGCTTTGGTGGAAAGT	0.448																																						uc003ncg.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(2)|ovary(2)	4						c.(4123-4125)AAA>GAA		kinesin family member 13A isoform a							86.0	85.0	86.0					6																	17777555		1907	4131	6038	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17777555T>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4123A>G	6.37:g.17777555T>C	ENSP00000259711:p.Lys1375Glu					KIF13A_uc003ncf.2_Missense_Mutation_p.K1362E|KIF13A_uc003nch.3_Missense_Mutation_p.K1375E|KIF13A_uc003nci.3_Missense_Mutation_p.K1362E|KIF13A_uc003nce.1_5'UTR	p.K1375E	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		34	4228	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1375					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4123A>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903894	0.92035	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.72942	-0.67;1.75;-0.7;-0.67;-0.67;-0.67	5.6	5.6	0.85130	.	0.096682	0.64402	D	0.000001	T	0.78553	0.4301	M	0.64170	1.965	0.58432	D	0.999992	P;D;P;D	0.76494	0.729;0.997;0.609;0.999	B;D;B;D	0.80764	0.316;0.909;0.168;0.994	T	0.80395	-0.1400	10	0.56958	D	0.05	.	16.0773	0.80976	0.0:0.0:0.0:1.0	.	1362;1375;1375;1362	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	E	1362;379;1375;1375;1362;1375	ENSP00000368091:K1362E;ENSP00000425616:K379E;ENSP00000259711:K1375E;ENSP00000368103:K1375E;ENSP00000368120:K1362E;ENSP00000368093:K1375E	ENSP00000259711:K1375E	K	-	1	0	KIF13A	17885534	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.655000	0.83696	2.254000	0.74563	0.482000	0.46254	AAA		0.448	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				10	33	0	0	0	0.010729	0	10	33		
CUL9	23113	broad.mit.edu	37	6	43156294	43156294	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:43156294G>A	ENST00000252050.4	+	8	2105	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	CUL9_ENST00000372647.2_Missense_Mutation_p.R674H|CUL9_ENST00000354495.3_Missense_Mutation_p.R564H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	674					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R674H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGTCCTCGCAGCTCCCTG	0.542																																						uc003ouk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(2020-2022)CGC>CAC		p53-associated parkin-like cytoplasmic protein							46.0	45.0	46.0					6																	43156294		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43156294G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2021G>A	6.37:g.43156294G>A	ENSP00000252050:p.Arg674His					CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.R674H|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	p.R674H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			8	2096	+			674					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2021G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877670	0.72294	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74632	-0.85;-0.86;-0.75	4.81	2.98	0.34508	.	0.968679	0.08501	N	0.936481	T	0.51160	0.1658	N	0.24115	0.695	0.32102	N	0.590424	D;D	0.58620	0.983;0.983	P;P	0.50231	0.635;0.635	T	0.34576	-0.9823	10	0.45353	T	0.12	-9.4411	5.3526	0.16043	0.1022:0.0:0.6967:0.201	.	674;674	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	H	674;564;674	ENSP00000252050:R674H;ENSP00000346490:R564H;ENSP00000361730:R674H	ENSP00000252050:R674H	R	+	2	0	CUL9	43264272	0.998000	0.40836	0.996000	0.52242	0.993000	0.82548	1.547000	0.36190	0.591000	0.29711	0.563000	0.77884	CGC		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		53	43	0	0	0	0.01441	0	53	43		
HSP90AB1	3326	broad.mit.edu	37	6	44216418	44216418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:44216418C>T	ENST00000371554.1	+	2	266	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.Q18*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.Q18*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	18					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.Q18*(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTTGCCTTTCAGGCAGAAAT	0.423																																						uc003oxa.1		NaN																	2	Substitution - Nonsense(2)	p.Q18*(1)	urinary_tract(1)|lung(1)	lung(3)|breast(1)	4						c.(52-54)CAG>TAG		heat shock 90kDa protein 1, beta							149.0	147.0	148.0					6																	44216418		2203	4300	6503	SO:0001587	stop_gained	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44216418C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.52C>T	6.37:g.44216418C>T	ENSP00000360609:p.Gln18*					HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.Q18*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.Q18*|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	p.Q18*	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	136	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		18					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Nonsense_Mutation	SNP	ENST00000371554.1	37	c.52C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	37	6.021336	0.97211	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	.	.	.	4.26	3.37	0.38596	.	0.091706	0.46442	U	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1785	13.5607	0.61788	0.1571:0.8429:0.0:0.0	.	.	.	.	X	18	.	ENSP00000325875:Q18X	Q	+	1	0	HSP90AB1	44324396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.805000	0.86005	0.898000	0.36418	0.505000	0.49811	CAG		0.423	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1		NM_007355		91	209	0	0	0	0.01441	0	91	209		
ME1	4199	broad.mit.edu	37	6	83963391	83963391	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:83963391G>T	ENST00000369705.3	-	7	887	c.771C>A	c.(769-771)aaC>aaA	p.N257K	ME1_ENST00000543031.1_Missense_Mutation_p.N182K|ME1_ENST00000541327.1_Missense_Mutation_p.N91K	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	257					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.N257K(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TTCGATACTTGTTCAGGAGAC	0.328																																						uc003pjy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(769-771)AAC>AAA		cytosolic malic enzyme 1	NADH(DB00157)						156.0	140.0	145.0					6																	83963391		2203	4299	6502	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83963391G>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.771C>A	6.37:g.83963391G>T	ENSP00000358719:p.Asn257Lys					ME1_uc011dzb.1_Missense_Mutation_p.N182K|ME1_uc011dzc.1_Missense_Mutation_p.N91K	p.N257K	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	7	877	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	257					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.771C>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163339	0.21538	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.27720	1.65;1.65;1.65	5.53	-2.61	0.06171	Malic enzyme, N-terminal (2);	0.484384	0.25823	N	0.028074	T	0.05960	0.0155	L	0.33485	1.01	0.40521	D	0.980832	B	0.02656	0.0	B	0.11329	0.006	T	0.23261	-1.0193	10	0.33940	T	0.23	-1.9203	1.1632	0.01810	0.205:0.3516:0.1599:0.2835	.	257	P48163	MAOX_HUMAN	K	257;91;182	ENSP00000358719:N257K;ENSP00000439912:N91K;ENSP00000446114:N182K	ENSP00000358719:N257K	N	-	3	2	ME1	84020110	1.000000	0.71417	0.959000	0.39883	0.978000	0.69477	0.734000	0.26101	-0.501000	0.06605	0.460000	0.39030	AAC		0.328	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1				21	89	1	0	2.00529e-23	0.00333	2.22208e-23	21	89		
AK9	221264	broad.mit.edu	37	6	109980580	109980580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:109980580G>A	ENST00000424296.2	-	7	557	c.481C>T	c.(481-483)Caa>Taa	p.Q161*	AK9_ENST00000285397.5_Nonsense_Mutation_p.Q161*|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Nonsense_Mutation_p.Q161*	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	161	Adenylate kinase 1.|LID 1. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.Q161*(2)									TGCTGTCTTTGCCCAGAAATT	0.353																																						uc003ptn.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)	1						c.(481-483)CAA>TAA		adenylate kinase domain containing 1 isoform 1							126.0	115.0	119.0					6																	109980580		2203	4300	6503	SO:0001587	stop_gained	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109980580G>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.481C>T	6.37:g.109980580G>A	ENSP00000410186:p.Gln161*					AKD1_uc003ptr.3_Nonsense_Mutation_p.Q161*|AKD1_uc003pts.1_RNA	p.Q161*	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			7	558	-			161					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	ENST00000424296.2	37	c.481C>T	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650178	0.96714	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084;ENST00000532976	.	.	.	5.46	5.46	0.80206	.	0.418780	0.26400	N	0.024586	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.2448	16.2363	0.82377	0.0:0.0:1.0:0.0	.	.	.	.	X	161;161;161;84;161	.	.	Q	-	1	0	AKD1	110087273	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.413000	0.59795	2.560000	0.86352	0.650000	0.86243	CAA		0.353	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001145128		35	39	0	0	0	0.00623	0	35	39		
GPR126	57211	broad.mit.edu	37	6	142691909	142691909	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:142691909G>C	ENST00000230173.6	+	4	1524	c.1048G>C	c.(1048-1050)Gct>Cct	p.A350P	GPR126_ENST00000367608.2_Missense_Mutation_p.A350P|GPR126_ENST00000296932.8_Missense_Mutation_p.A350P|GPR126_ENST00000367609.3_Missense_Mutation_p.A350P|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	350	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A349P(1)|p.A350P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGCTCTGAAAGCTGAAAGCAA	0.363																																						uc010khc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1048-1050)GCT>CCT		G protein-coupled receptor 126 alpha 1							61.0	61.0	61.0					6																	142691909		1847	4101	5948	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691909G>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1048G>C	6.37:g.142691909G>C	ENSP00000230173:p.Ala350Pro					GPR126_uc010khd.2_Missense_Mutation_p.A350P|GPR126_uc010khe.2_Missense_Mutation_p.A350P|GPR126_uc010khf.2_Missense_Mutation_p.A350P|GPR126_uc003qix.2_Missense_Mutation_p.A350P	p.A350P	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1459	+	Breast(32;0.176)		350			Pentaxin.|Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.1048G>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199269	0.94997	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.93	5.93	0.95920	.	0.087491	0.49916	D	0.000137	T	0.68641	0.3023	M	0.67953	2.075	0.49389	D	0.999782	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.983	T	0.69191	-0.5210	10	0.72032	D	0.01	.	20.3397	0.98756	0.0:0.0:1.0:0.0	.	350;350;350;350	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	P	350	ENSP00000230173:A350P;ENSP00000356580:A350P;ENSP00000296932:A350P;ENSP00000356581:A350P	ENSP00000230173:A350P	A	+	1	0	GPR126	142733602	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.681000	0.74523	2.803000	0.96430	0.585000	0.79938	GCT		0.363	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2				3	48	0	0	0	0.009096	0	3	48		
TAB2	23118	broad.mit.edu	37	6	149700178	149700178	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:149700178C>T	ENST00000367456.1	+	4	1704	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	TAB2_ENST00000286332.5_Missense_Mutation_p.T376M|TAB2_ENST00000538427.1_Missense_Mutation_p.T376M|TAB2_ENST00000536230.1_Missense_Mutation_p.T344M|TAB2_ENST00000392282.1_Missense_Mutation_p.T376M			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	376					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.T376M(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCCCCAAATACGGATGAGCTG	0.493																																						uc003qmj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1126-1128)ACG>ATG		mitogen-activated protein kinase kinase kinase 7							73.0	65.0	67.0					6																	149700178		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700178C>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1127C>T	6.37:g.149700178C>T	ENSP00000356426:p.Thr376Met					TAB2_uc011eec.1_Missense_Mutation_p.T344M|TAB2_uc010kia.1_Missense_Mutation_p.T376M|TAB2_uc010kib.1_Missense_Mutation_p.T376M|TAB2_uc003qmk.3_RNA	p.T376M	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1305	+			376					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1127C>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192004	0.58017	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.73897	-0.77;-0.79;-0.77;-0.77;-0.77	5.98	5.12	0.69794	.	0.497850	0.25456	N	0.030555	T	0.42675	0.1213	N	0.08118	0	0.48901	D	0.999725	P;P	0.35174	0.488;0.488	B;B	0.33690	0.168;0.168	T	0.55095	-0.8194	10	0.49607	T	0.09	-9.1634	15.1358	0.72566	0.0:0.9325:0.0:0.0675	.	344;376	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	M	344;376;376;376;376	ENSP00000443206:T344M;ENSP00000376106:T376M;ENSP00000445752:T376M;ENSP00000356426:T376M;ENSP00000286332:T376M	ENSP00000286332:T376M	T	+	2	0	TAB2	149741871	0.430000	0.25538	0.970000	0.41538	0.871000	0.50021	2.501000	0.45389	1.552000	0.49463	0.591000	0.81541	ACG		0.493	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3				26	60	0	0	0	0.00333	0	26	60		
FOXK1	221937	broad.mit.edu	37	7	4794201	4794201	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:4794201C>T	ENST00000328914.4	+	3	858	c.858C>T	c.(856-858)gcC>gcT	p.A286A	FOXK1_ENST00000446823.1_Silent_p.A123A	NM_001037165.1	NP_001032242.1			forkhead box K1									p.A286A(1)|p.A264A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCAAAGGCCGCGTCGGAGC	0.657																																						uc003snc.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(856-858)GCC>GCT		forkhead box K1							60.0	49.0	53.0					7																	4794201		2203	4300	6503	SO:0001819	synonymous_variant	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4794201C>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.858C>T	7.37:g.4794201C>T						FOXK1_uc003sna.1_Silent_p.A123A|FOXK1_uc003snb.1_Silent_p.A286A	p.A286A	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	3	868	+		Ovarian(82;0.0175)	286						Silent	SNP	ENST00000328914.4	37	c.858C>T	CCDS34591.1																																																																																				0.657	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2				11	59	0	0	0	0.010729	0	11	59		
DNAH11	8701	broad.mit.edu	37	7	21826264	21826264	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:21826264C>G	ENST00000409508.3	+	59	9651	c.9620C>G	c.(9619-9621)gCc>gGc	p.A3207G	DNAH11_ENST00000328843.6_Missense_Mutation_p.A3214G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3214	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3214G(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGCTGAAAGCCTTTCCCAAC	0.512									Kartagener syndrome																													uc003svc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(9640-9642)GCC>GGC		dynein, axonemal, heavy chain 11							138.0	139.0	139.0					7																	21826264		1959	4142	6101	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21826264C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9620C>G	7.37:g.21826264C>G	ENSP00000475939:p.Ala3207Gly						p.A3214G	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			60	9672	+			3214			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9641C>G		.	.	.	.	.	.	.	.	.	.	C	16.71	3.199419	0.58126	.	.	ENSG00000105877	ENST00000328843	T	0.74842	-0.88	6.03	1.19	0.21007	Dynein heavy chain, coiled coil stalk (1);	0.320742	0.37809	N	0.001932	T	0.76033	0.3931	.	.	.	0.22866	N	0.99863	P	0.46457	0.878	P	0.51266	0.664	T	0.68808	-0.5311	9	0.62326	D	0.03	.	10.6067	0.45398	0.0:0.6834:0.0:0.3166	.	3214	Q96DT5	DYH11_HUMAN	G	3214	ENSP00000330671:A3214G	ENSP00000330671:A3214G	A	+	2	0	DNAH11	21792789	0.264000	0.24093	0.930000	0.37139	0.910000	0.53928	0.590000	0.23954	-0.053000	0.13289	-0.136000	0.14681	GCC		0.512	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		9	96	0	0	0	0.006214	0	9	96		
HECW1	23072	broad.mit.edu	37	7	43484652	43484652	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:43484652G>A	ENST00000395891.2	+	11	2486	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	HECW1_ENST00000453890.1_Silent_p.T627T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	627					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T627T(1)|p.T606T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTCCAGGCACGGCGCACCCTG	0.706																																						uc003tid.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1879-1881)ACG>ACA		NEDD4-like ubiquitin-protein ligase 1							9.0	13.0	11.0					7																	43484652		1976	4117	6093	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484652G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1881G>A	7.37:g.43484652G>A						HECW1_uc011kbi.1_Silent_p.T627T	p.T627T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2486	+			627					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1881G>A	CCDS5469.2																																																																																				0.706	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052		11	20	0	0	0	0.008291	0	11	20		
FBXO24	26261	broad.mit.edu	37	7	100187841	100187841	+	Silent	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100187841C>G	ENST00000241071.6	+	3	505	c.183C>G	c.(181-183)gcC>gcG	p.A61A	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.A99A|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Silent_p.A49A|FBXO24_ENST00000465843.1_Silent_p.A61A|FBXO24_ENST00000360609.2_Silent_p.A61A	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	61	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.A61A(1)|p.A99A(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTTGTTGCCCTCGGCCAGA	0.607																																						uc003uvm.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|skin(1)	4						c.(181-183)GCC>GCG		F-box only protein 24 isoform 1							62.0	46.0	52.0					7																	100187841		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187841C>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.183C>G	7.37:g.100187841C>G						FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Silent_p.A61A|FBXO24_uc003uvn.1_Intron|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Silent_p.A99A|FBXO24_uc011kka.1_Silent_p.A49A	p.A61A	NM_033506	NP_277041	O75426	FBX24_HUMAN			3	476	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		61			F-box.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.183C>G	CCDS5698.1																																																																																				0.607	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1				64	31	0	0	0	0.01441	0	64	31		
ACHE	43	broad.mit.edu	37	7	100491616	100491616	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100491616G>A	ENST00000412389.1	-	1	393	c.238C>T	c.(238-240)Cca>Tca	p.P80S	ACHE_ENST00000241069.5_Missense_Mutation_p.P80S|ACHE_ENST00000419336.2_Missense_Mutation_p.P80S|ACHE_ENST00000411582.1_Missense_Mutation_p.P80S|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000428317.1_Missense_Mutation_p.P80S|ACHE_ENST00000302913.4_Missense_Mutation_p.P80S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	80					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.P80S(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GGCTCCGGTGGCAGAAAGCGA	0.627																																						uc003uxd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)	2						c.(238-240)CCA>TCA		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						61.0	61.0	61.0					7																	100491616		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491616G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.238C>T	7.37:g.100491616G>A	ENSP00000394976:p.Pro80Ser					ACHE_uc003uxe.2_Missense_Mutation_p.P80S|ACHE_uc003uxf.2_Missense_Mutation_p.P80S|ACHE_uc003uxg.2_Missense_Mutation_p.P80S|ACHE_uc003uxh.2_Missense_Mutation_p.P80S|ACHE_uc003uxi.2_Missense_Mutation_p.P80S|ACHE_uc003uxj.1_Missense_Mutation_p.P199S	p.P80S	NM_000665	NP_000656	P22303	ACES_HUMAN			1	394	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		80					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.238C>T	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.325281	0.60743	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.02	4.12	0.48240	Carboxylesterase, type B (1);	0.190384	0.42420	D	0.000708	T	0.68311	0.2987	L	0.56769	1.78	0.29905	N	0.824022	D;D;D;D	0.61080	0.983;0.989;0.977;0.964	P;P;P;P	0.48901	0.581;0.594;0.514;0.495	T	0.69907	-0.5018	10	0.54805	T	0.06	.	13.4206	0.60996	0.0:0.1594:0.8405:0.0	.	80;80;80;80	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	S	80	ENSP00000403474:P80S;ENSP00000241069:P80S;ENSP00000414858:P80S;ENSP00000303211:P80S;ENSP00000394976:P80S;ENSP00000397143:P80S;ENSP00000399725:P80S;ENSP00000404865:P80S;ENSP00000396360:P80S	ENSP00000241069:P80S	P	-	1	0	ACHE	100329552	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.654000	0.24918	1.200000	0.43188	0.556000	0.70494	CCA		0.627	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1		NM_015831		28	146	0	0	0	0.005443	0	28	146		
ORAI2	80228	broad.mit.edu	37	7	102087006	102087006	+	Missense_Mutation	SNP	G	G	A	rs372227034		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:102087006G>A	ENST00000356387.2	+	4	507	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	ORAI2_ENST00000403646.3_Missense_Mutation_p.R91Q|ORAI2_ENST00000478730.2_Missense_Mutation_p.R91Q|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Missense_Mutation_p.R91Q	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	91						growth cone (GO:0030426)|integral component of membrane (GO:0016021)		p.R91Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CAGTACCCGCGGCCGCTGCTG	0.662																																						uc010lhz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(271-273)CGG>CAG		ORAI calcium release-activated calcium modulator		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	50.0	46.0	47.0		272,272	-0.0	0.4	7		47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ORAI2	NM_001126340.1,NM_032831.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	91/255,91/255	102087006	1,13005	2203	4300	6503	SO:0001583	missense	80228					integral to membrane	protein binding	g.chr7:102087006G>A	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.272G>A	7.37:g.102087006G>A	ENSP00000348752:p.Arg91Gln					ORAI2_uc003uzj.2_Missense_Mutation_p.R91Q|ORAI2_uc003uzk.2_Missense_Mutation_p.R91Q|ORAI2_uc011kks.1_Missense_Mutation_p.R14Q	p.R91Q	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN			4	507	+			91					Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	c.272G>A	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857456	0.32791	0.0	1.16E-4	ENSG00000160991	ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000498661;ENST00000473939	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.41	-0.0356	0.13891	.	0.512144	0.21236	N	0.077896	T	0.18257	0.0438	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11299	-1.0593	10	0.25106	T	0.35	-27.8299	4.0314	0.09711	0.4132:0.3716:0.2152:0.0	.	91	Q96SN7	ORAI2_HUMAN	Q	91	ENSP00000420178:R91Q;ENSP00000348752:R91Q;ENSP00000418140:R91Q;ENSP00000417407:R91Q;ENSP00000385489:R91Q;ENSP00000418464:R91Q;ENSP00000417928:R91Q	ENSP00000348752:R91Q	R	+	2	0	ORAI2	101874011	0.949000	0.32298	0.383000	0.26132	0.928000	0.56348	0.849000	0.27723	0.076000	0.16826	0.561000	0.74099	CGG		0.662	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2		NM_032831		17	72	0	0	0	0.014323	0	17	72		
DDHD2	23259	broad.mit.edu	37	8	38095117	38095117	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:38095117G>A	ENST00000397166.2	+	4	998	c.473G>A	c.(472-474)aGa>aAa	p.R158K	DDHD2_ENST00000520272.2_Missense_Mutation_p.R158K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	158					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R158K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCTCCCAACAGAGAAATTATT	0.333																																						uc003xlb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(472-474)AGA>AAA		DDHD domain containing 2 isoform 1							46.0	46.0	46.0					8																	38095117		2200	4297	6497	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095117G>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.473G>A	8.37:g.38095117G>A	ENSP00000380352:p.Arg158Lys					DDHD2_uc003xla.2_Missense_Mutation_p.R158K|DDHD2_uc003xlc.2_Missense_Mutation_p.R158K|DDHD2_uc011lbl.1_Silent_p.Q10Q	p.R158K	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		4	850	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	158					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.473G>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250961	0.80135	.	.	ENSG00000085788	ENST00000397166;ENST00000528358;ENST00000532222;ENST00000520272	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.23	5.23	0.72850	.	0.049952	0.85682	D	0.000000	T	0.32436	0.0829	L	0.38531	1.155	0.80722	D	1	P;D	0.63880	0.761;0.993	B;P	0.46718	0.247;0.525	T	0.02042	-1.1224	9	.	.	.	-18.5845	18.2067	0.89857	0.0:0.0:1.0:0.0	.	158;158	O94830;E9PKE6	DDHD2_HUMAN;.	K	158;156;158;158	ENSP00000380352:R158K;ENSP00000433118:R156K;ENSP00000433578:R158K;ENSP00000429932:R158K	.	R	+	2	0	DDHD2	38214274	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.381000	0.97205	2.604000	0.88044	0.558000	0.71614	AGA		0.333	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2		XM_291291		16	57	0	0	0	0.006122	0	16	57		
KCNB2	9312	broad.mit.edu	37	8	73480335	73480335	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:73480335A>G	ENST00000523207.1	+	2	954	c.366A>G	c.(364-366)gaA>gaG	p.E122E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	122					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E122E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTGGCCAAGAACTTGATTACT	0.448																																						uc003xzb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(364-366)GAA>GAG		potassium voltage-gated channel, Shab-related							94.0	99.0	97.0					8																	73480335		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480335A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.366A>G	8.37:g.73480335A>G							p.E122E	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	954	+	Breast(64;0.137)		122			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.366A>G	CCDS6209.1																																																																																				0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770		37	120	0	0	0	0.004878	0	37	120		
ZFHX4	79776	broad.mit.edu	37	8	77776411	77776411	+	Silent	SNP	T	T	C	rs371578848		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:77776411T>C	ENST00000521891.2	+	11	10909	c.10461T>C	c.(10459-10461)gtT>gtC	p.V3487V	ZFHX4_ENST00000518282.1_Silent_p.V3461V|ZFHX4_ENST00000050961.6_Silent_p.V3438V|ZFHX4_ENST00000455469.2_Silent_p.V3442V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3438	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.V3471V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGAGCATGTTAGATTATTAC	0.433										HNSCC(33;0.089)																												uc003yav.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(10324-10326)GTT>GTC		zinc finger homeodomain 4		T		0,4200		0,0,2100	117.0	115.0	116.0		10461	4.7	1.0	8		116	1,8463		0,1,4231	no	coding-synonymous	ZFHX4	NM_024721.4		0,1,6331	CC,CT,TT		0.0118,0.0,0.0079		3487/3617	77776411	1,12663	2100	4232	6332	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77776411T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10461T>C	8.37:g.77776411T>C		HNSCC(33;0.089)					p.V3442V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10713	+			3438					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.10326T>C	CCDS47878.2																																																																																				0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		6	24	0	0	0	0.001168	0	6	24		
POU5F1B	5462	broad.mit.edu	37	8	128429170	128429170	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:128429170C>T	ENST00000465342.2	+	2	2216	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	POU5F1B_ENST00000391675.1_Silent_p.G353G|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G353G(2)		lung(1)|prostate(1)|urinary_tract(1)	3						TCACTCTGGGCTCTCCCATGC	0.577																																						uc003ysf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1057-1059)GGC>GGT		POU class 5 homeobox 1B							57.0	52.0	54.0					8																	128429170		692	1591	2283	SO:0001819	synonymous_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128429170C>T	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.1059C>T	8.37:g.128429170C>T						uc003ysc.1_Intron|uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|uc011liu.1_5'Flank	p.G353G	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN			1	1314	+			353					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	c.1059C>T	CCDS55274.1																																																																																				0.577	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2		NM_001159542		12	14	0	0	0	0.001855	0	12	14		
COL22A1	169044	broad.mit.edu	37	8	139734291	139734291	+	Silent	SNP	C	C	T	rs374425269	byFrequency	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:139734291C>T	ENST00000303045.6	-	26	2735	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P	COL22A1_ENST00000435777.1_Silent_p.P763P|COL22A1_ENST00000341807.4_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	763	Collagen-like 5.|Gly-rich.|Pro-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075). {ECO:0000305}.	extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P763P(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTTCCTGGCGGACCTGGTG	0.478										HNSCC(7;0.00092)			C|||	3	0.000599042	0.0	0.0	5008	,	,		17752	0.003		0.0	False		,,,				2504	0.0					uc003yvd.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2287-2289)CCG>CCA		collagen, type XXII, alpha 1							46.0	38.0	41.0					8																	139734291		2202	4298	6500	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139734291C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2289G>A	8.37:g.139734291C>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.P63P	p.P763P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		26	2736	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		763	GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075).		Collagen-like 5.|Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.2289G>A	CCDS6376.1																																																																																				0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		7	17	0	0	0	0.00308	0	7	17		
SETX	23064	broad.mit.edu	37	9	135205856	135205856	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr9:135205856C>A	ENST00000224140.5	-	10	1311	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	SETX_ENST00000372169.2_Missense_Mutation_p.D377Y|SETX_ENST00000393220.1_Missense_Mutation_p.D377Y	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	377					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)	p.D377Y(1)		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)		GGACAATAATCTGGGCAAATG	0.388																																						uc004cbk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1129-1131)GAT>TAT		senataxin							66.0	57.0	60.0					9																	135205856		2202	4300	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205856C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1129G>T	9.37:g.135205856C>A	ENSP00000224140:p.Asp377Tyr					SETX_uc004cbj.2_5'UTR|SETX_uc010mzt.2_5'UTR	p.D377Y	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1312	-		Myeloproliferative disorder(178;0.204)	377					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1129G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948060	0.73787	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.71341	-0.56;-0.56;-0.56	5.83	5.83	0.93111	.	0.062472	0.64402	D	0.000007	T	0.78298	0.4261	L	0.29908	0.895	0.45194	D	0.998209	D	0.89917	1.0	D	0.76575	0.988	T	0.79981	-0.1574	10	0.87932	D	0	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	377	Q7Z333	SETX_HUMAN	Y	377	ENSP00000224140:D377Y;ENSP00000361242:D377Y;ENSP00000376913:D377Y	ENSP00000224140:D377Y	D	-	1	0	SETX	134195677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.755000	0.94549	0.650000	0.86243	GAT		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		NM_015046		29	14	1	0	1.68575e-08	0.007291	1.78748e-08	29	14		
ZNF645	158506	broad.mit.edu	37	X	22291957	22291957	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:22291957G>A	ENST00000323684.1	+	1	893	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A283A(3)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGCATTATGCGCCACCTCCAT	0.473																																						uc004dai.1		NaN																	3	Substitution - coding silent(3)		large_intestine(2)|urinary_tract(1)	lung(1)|pancreas(1)	2						c.(847-849)GCG>GCA		zinc finger protein 645							150.0	116.0	127.0					X																	22291957		2203	4300	6503	SO:0001819	synonymous_variant	158506					intracellular	zinc ion binding	g.chrX:22291957G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.849G>A	X.37:g.22291957G>A							p.A283A	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	898	+			283			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	c.849G>A	CCDS14205.1																																																																																				0.473	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1		NM_152577		69	20	0	0	0	0.01441	0	69	20		
FLNA	2316	broad.mit.edu	37	X	153592464	153592464	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:153592464C>T	ENST00000369850.3	-	15	2442	c.2206G>A	c.(2206-2208)Gtg>Atg	p.V736M	FLNA_ENST00000360319.4_Missense_Mutation_p.V736M|FLNA_ENST00000344736.4_Missense_Mutation_p.V736M|FLNA_ENST00000422373.1_Missense_Mutation_p.V736M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	736					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.V736M(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTGGGCACGTAGGAGCAG	0.612																																						uc004fkk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(6)	6						c.(2206-2208)GTG>ATG		filamin A, alpha isoform 2							77.0	83.0	81.0					X																	153592464		2086	4193	6279	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592464C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2206G>A	X.37:g.153592464C>T	ENSP00000358866:p.Val736Met					FLNA_uc010nuu.1_Missense_Mutation_p.V736M	p.V736M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			15	2455	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		736			Filamin 5.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2206G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463122	0.63513	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.95	3.18	0.36537	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.274657	0.29389	N	0.012288	T	0.73345	0.3575	L	0.49778	1.585	0.80722	D	1	P;D	0.56035	0.867;0.974	P;P	0.53185	0.496;0.72	T	0.70898	-0.4747	10	0.66056	D	0.02	.	5.7837	0.18320	0.1544:0.6802:0.0:0.1654	.	736;736	P21333-2;P21333	.;FLNA_HUMAN	M	736;709;736;736;736	ENSP00000353467:V736M;ENSP00000416926:V736M;ENSP00000358866:V736M;ENSP00000358863:V736M	ENSP00000358863:V736M	V	-	1	0	FLNA	153245658	0.971000	0.33674	0.921000	0.36526	0.973000	0.67179	2.101000	0.41787	0.356000	0.24157	0.525000	0.51046	GTG		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				73	18	0	0	0	0.01441	0	73	18		
TAF5	6877	broad.mit.edu	37	10	105133276	105133277	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr10:105133276_105133277insA	ENST00000369839.3	+	2	744_745	c.721_722insA	c.(721-723)tatfs	p.Y241fs	TAF5_ENST00000351396.4_Frame_Shift_Ins_p.Y241fs	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	241					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACTTTTTTATCCTCTGTTT	0.371																																						uc001kwv.2		NaN																	0				ovary(2)	2						c.(721-723)TATfs		TBP-associated factor 5																																				SO:0001589	frameshift_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105133276_105133277insA	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.722dupA	10.37:g.105133277_105133277dupA	ENSP00000358854:p.Tyr241fs					TAF5_uc010qqq.1_Frame_Shift_Ins_p.Y241fs	p.Y241fs	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	744_745	+		Colorectal(252;0.0747)|Breast(234;0.128)	241					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Frame_Shift_Ins	INS	ENST00000369839.3	37	c.721_722insA	CCDS7547.1																																																																																				0.371	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1				105	165	NaN	NaN	NaN	NaN	NaN	105	165	---	---
KMT2D	8085	broad.mit.edu	37	12	49425220	49425220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:49425220delG	ENST00000301067.7	-	39	13267	c.13268delC	c.(13267-13269)ccafs	p.P4423fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4423					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGGGCACATGGCTCTTCCCG	0.622																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13267-13269)CCAfs		myeloid/lymphoid or mixed-lineage leukemia 2							38.0	39.0	39.0					12																	49425220		2021	4180	6201	SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49425220delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13268delC	12.37:g.49425220delG	ENSP00000301067:p.Pro4423fs	HNSCC(34;0.089)					p.P4423fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	13268	-			4423					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.13268delC	CCDS44873.1																																																																																				0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				30	57	NaN	NaN	NaN	NaN	NaN	30	57	---	---
CDKL4	344387	broad.mit.edu	37	2	39417450	39417453	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:39417450_39417453delTGTT	ENST00000395035.3	-	5	644_647	c.645_648delAACA	c.(643-648)agaacafs	p.RT215fs	CDKL4_ENST00000378803.1_Frame_Shift_Del_p.RT215fs			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCATACCTAGTGTTCTGATTATCA	0.343																																						uc002rrm.2		NaN																	0				ovary(1)	1						c.(643-648)AGAACAfs		cyclin-dependent kinase-like 4																																				SO:0001589	frameshift_variant	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39417450_39417453delTGTT		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.645_648delAACA	2.37:g.39417450_39417453delTGTT	ENSP00000378476:p.Arg215fs					CDKL4_uc010fal.1_Frame_Shift_Del_p.R215fs	p.R215fs	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			5	645_648	-		all_hematologic(82;0.248)	215_216			Protein kinase.		Q2NME9	Frame_Shift_Del	DEL	ENST00000395035.3	37	c.645_648delAACA																																																																																					0.343	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1		XM_293029		25	96	NaN	NaN	NaN	NaN	NaN	25	96	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						uc003jcz.2		NaN																	0					0						c.(682-687)GAGGGG>GGG		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_uc011cmf.1_In_Frame_Del_p.E89del	p.E228del	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	4	802_804	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1		NM_016358		7	141	NaN	NaN	NaN	NaN	NaN	7	141	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						uc003uly.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1108-1110)ATTfs		peroxin1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.I370fs	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1204	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466		7	418	NaN	NaN	NaN	NaN	NaN	7	418	---	---
