#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
COL20A1	57642	broad.mit.edu	37	20	61959791	61959791	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:61959791G>A	ENST00000358894.6	+	34	3822	c.3722G>A	c.(3721-3723)cGc>cAc	p.R1241H	COL20A1_ENST00000422202.1_Missense_Mutation_p.R1254H|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1273H|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1254H	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1241					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGGCACCCGCAGCAAGGCC	0.662																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3760-3762)cGc>cAc		collagen, type XX, alpha 1							20.0	24.0	22.0					20																	61959791		1911	4108	6019	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959791G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3722G>A	20.37:g.61959791G>A	ENSP00000351767:p.Arg1241His					COL20A1_ENST00000435874.1_Missense_Mutation_p.R1254H|COL20A1_ENST00000358894.6_Missense_Mutation_p.R1241H|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1273H	p.R1254H			Q9P218	COKA1_HUMAN			33	3829	+	all_cancers(38;1.39e-10)		1241					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3761G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.442514	0.01089	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.91124	-2.13;-2.14;-2.11;-2.11;-2.79;-2.63	3.13	-6.25	0.02039	.	0.688712	0.12868	N	0.432527	T	0.68641	0.3023	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.57447	-0.7810	10	0.32370	T	0.25	.	4.7279	0.12950	0.1849:0.1327:0.5508:0.1316	.	1254;1241	Q9P218-2;Q9P218	.;COKA1_HUMAN	H	1241;1273;1254;1254;382;237	ENSP00000351767:R1241H;ENSP00000323077:R1273H;ENSP00000408690:R1254H;ENSP00000414753:R1254H;ENSP00000410799:R382H;ENSP00000406345:R237H	ENSP00000323077:R1273H	R	+	2	0	COL20A1	61430235	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.647000	0.00860	-2.956000	0.00291	-2.507000	0.00189	CGC		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		13	21	0	0	0	1	0	13	21				
CERS6	253782	broad.mit.edu	37	2	169404167	169404167	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:169404167C>T	ENST00000305747.6	+	2	819	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	CERS6_ENST00000392687.4_Missense_Mutation_p.P78S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	78					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACAAATTGCTCCGCCCAATGC	0.443																																						ENST00000305747.6																			0											c.(232-234)Ccg>Tcg		ceramide synthase 6							102.0	85.0	91.0					2																	169404167		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169404167C>T	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.232C>T	2.37:g.169404167C>T	ENSP00000306579:p.Pro78Ser					CERS6_ENST00000392687.4_Missense_Mutation_p.P78S	p.P78S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			2	819	+			78					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.232C>T	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621600	0.28889	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.20598	2.06;2.06	5.59	4.7	0.59300	Homeobox (1);Homeodomain-like (1);	0.207174	0.52532	D	0.000079	T	0.12305	0.0299	N	0.13168	0.305	0.35035	D	0.759159	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.13045	-1.0524	10	0.10111	T	0.7	-31.5338	14.5995	0.68429	0.1473:0.8527:0.0:0.0	.	78;78	Q32M63;Q6ZMG9	.;CERS6_HUMAN	S	78	ENSP00000306579:P78S;ENSP00000376453:P78S	ENSP00000306579:P78S	P	+	1	0	CERS6	169112413	1.000000	0.71417	0.975000	0.42487	0.880000	0.50808	3.981000	0.56902	1.306000	0.44926	0.585000	0.79938	CCG		0.443	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		14	21	0	0	0	1	0	14	21				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245D	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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)	ENST00000420246.2		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"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	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.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	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_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D	p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	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	0.99898	0.9951	M	0.91920	3.255	0.80722	A	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	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	4	0	0	0	1	0	31	4				
MALAT1	378938	broad.mit.edu	37	11	65268712	65268712	+	lincRNA	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:65268712T>G	ENST00000534336.1	+	0	3480				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTGTGGGGGTGGGGGCAAAA	0.393																																						ENST00000534336.1																			0																																																			0							g.chr11:65268712T>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268712T>G								NR_002819.2						0	3480	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.393	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		19	55	0	0	0	1	0	19	55				
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr8:116430678C>A	ENST00000220888.5	-	5	2823	c.2664G>T	c.(2662-2664)agG>agT	p.R888S	TRPS1_ENST00000519076.1_Missense_Mutation_p.R642S|TRPS1_ENST00000520276.1_Missense_Mutation_p.R892S|TRPS1_ENST00000395715.3_Missense_Mutation_p.R901S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCCTCTACGCCTCTGAAACA	0.473									Langer-Giedion syndrome																													ENST00000395715.3																			4	Substitution - coding silent(4)	p.R888R(2)|p.R901R(2)	lung(4)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2701-2703)agG>agT		trichorhinophalangeal syndrome I							87.0	88.0	88.0					8																	116430678		1911	4120	6031	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116430678C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2664G>T	8.37:g.116430678C>A	ENSP00000220888:p.Arg888Ser					TRPS1_ENST00000520276.1_Missense_Mutation_p.R892S|TRPS1_ENST00000519076.1_Missense_Mutation_p.R642S|TRPS1_ENST00000220888.5_Missense_Mutation_p.R888S	p.R901S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3280	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		888		T -> P (in TRPS3; severe).			B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2703G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488786|2.488786	0.44249|0.44249	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|D;D;D;D	.|0.99660	.|-6.32;-6.32;-6.32;-6.32	5.81|5.81	3.78|3.78	0.43462|0.43462	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98883|0.98883	0.9622|0.9622	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.83275	.|0.996;0.991;0.996	D|D	0.98168|0.98168	1.0450|1.0450	5|10	.|0.59425	.|D	.|0.04	.|.	6.4745|6.4745	0.22028|0.22028	0.0:0.6816:0.0:0.3184|0.0:0.6816:0.0:0.3184	.|.	.|892;888;901	.|Q9UHF7-3;Q9UHF7;Q9UHF7-2	.|.;TRPS1_HUMAN;.	S|S	13|901;888;642;892	.|ENSP00000379065:R901S;ENSP00000220888:R888S;ENSP00000428910:R642S;ENSP00000428680:R892S	.|ENSP00000220888:R888S	A|R	-|-	1|3	0|2	TRPS1|TRPS1	116499854|116499854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.797000|0.797000	0.26999|0.26999	1.457000|1.457000	0.47850|0.47850	0.650000|0.650000	0.86243|0.86243	GCG|AGG		0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		6	181	1	0	2.7689e-08	1	2.87819e-08	6	181				
TDRD9	122402	broad.mit.edu	37	14	104491922	104491922	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr14:104491922T>G	ENST00000409874.4	+	26	2788	c.2740T>G	c.(2740-2742)Tgg>Ggg	p.W914G	TDRD9_ENST00000339063.5_Missense_Mutation_p.W914G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	914					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGGACACTTTTGGGGATACAG	0.443																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2740-2742)Tgg>Ggg		tudor domain containing 9							55.0	60.0	58.0					14																	104491922		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104491922T>G	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2740T>G	14.37:g.104491922T>G	ENSP00000387303:p.Trp914Gly					TDRD9_ENST00000339063.5_Missense_Mutation_p.W914G	p.W914G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			26	2788	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	914					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2740T>G	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.24|19.24	3.788655|3.788655	0.70337|0.70337	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.11063	.|2.81;2.81	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Maternal tudor protein (1);	.|0.000000	.|0.56097	.|D	.|0.000025	T|T	0.37812|0.37812	0.1017|0.1017	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.39396|0.39396	-0.9616|-0.9616	5|10	.|0.87932	.|D	.|0	.|.	14.8915|14.8915	0.70611|0.70611	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|914;914	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	W|G	640|914	.|ENSP00000387303:W914G;ENSP00000343545:W914G	.|ENSP00000343545:W914G	L|W	+|+	2|1	0|0	TDRD9|TDRD9	103561675|103561675	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	6.942000|6.942000	0.75928|0.75928	1.919000|1.919000	0.55581|0.55581	0.455000|0.455000	0.32223|0.32223	TTG|TGG		0.443	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		19	44	0	0	0	1	0	19	44				
CNOT1	23019	broad.mit.edu	37	16	58565875	58565875	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:58565875G>C	ENST00000317147.5	-	42	6496	c.6164C>G	c.(6163-6165)aCg>aGg	p.T2055R	CNOT1_ENST00000245138.4_Missense_Mutation_p.T906R|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2055					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6163-6165)aCg>aGg		CCR4-NOT transcription complex, subunit 1							111.0	104.0	106.0					16																	58565875		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58565875G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6164C>G	16.37:g.58565875G>C	ENSP00000320949:p.Thr2055Arg					CNOT1_ENST00000245138.4_Missense_Mutation_p.T906R|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050R	p.T2055R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	42	6496	-			2055					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6164C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711298	0.89112	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.47869	0.83	5.52	5.52	0.82312	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.68593	2.085	0.80722	D	1	D;D;D	0.65815	0.995;0.981;0.98	P;P;P	0.61275	0.866;0.886;0.838	T	0.55958	-0.8058	10	0.16896	T	0.51	.	19.7884	0.96447	0.0:0.0:1.0:0.0	.	906;2055;2050	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	2055;749;60;906;2050	ENSP00000320949:T2055R	ENSP00000245138:T906R	T	-	2	0	CNOT1	57123376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.758000	0.94735	0.650000	0.86243	ACG		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		34	4	0	0	0	1	0	34	4				
DHX8	1659	broad.mit.edu	37	17	41582141	41582141	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:41582141T>A	ENST00000262415.3	+	12	1748	c.1676T>A	c.(1675-1677)cTt>cAt	p.L559H	DHX8_ENST00000540306.1_Missense_Mutation_p.L559H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	559					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGTCAATCCTTGAGCAGAGG	0.473																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1675-1677)cTt>cAt		DEAH (Asp-Glu-Ala-His) box polypeptide 8							110.0	109.0	110.0					17																	41582141		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41582141T>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1676T>A	17.37:g.41582141T>A	ENSP00000262415:p.Leu559His					DHX8_ENST00000540306.1_Missense_Mutation_p.L559H	p.L559H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	12	1748	+		Breast(137;0.00908)	559						Missense_Mutation	SNP	ENST00000262415.3	37	c.1676T>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486253	0.44147	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.24908	1.83;1.83	5.36	5.36	0.76844	.	0.554792	0.19439	N	0.114221	T	0.32194	0.0821	M	0.69463	2.115	0.46028	D	0.998824	B;B	0.23128	0.08;0.026	B;B	0.27170	0.077;0.022	T	0.08126	-1.0737	10	0.49607	T	0.09	.	14.5333	0.67942	0.0:0.0:0.0:1.0	.	559;559	F5H658;Q14562	.;DHX8_HUMAN	H	559	ENSP00000437886:L559H;ENSP00000262415:L559H	ENSP00000262415:L559H	L	+	2	0	DHX8	38937667	1.000000	0.71417	0.752000	0.31206	0.568000	0.35870	7.947000	0.87758	2.043000	0.60533	0.454000	0.30748	CTT		0.473	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			163	71	0	0	0	1	0	163	71				
DNAH8	1769	broad.mit.edu	37	6	38942307	38942307	+	Splice_Site	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:38942307T>C	ENST00000359357.3	+	83	12437		c.e83+2		DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGTGCAGGTAACTGCAGAA	0.483																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e83+2		dynein, axonemal, heavy chain 8							75.0	70.0	72.0					6																	38942307		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38942307T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12183+2T>C	6.37:g.38942307T>C						DNAH8_ENST00000441566.1_Splice_Site								83	12437	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	T	18.27	3.587102	0.66105	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2167	0.82231	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	39050285	1.000000	0.71417	0.999000	0.59377	0.612000	0.37316	4.639000	0.61361	2.231000	0.72958	0.533000	0.62120	.		0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	4	58	0	0	0	1	0	4	58				
FLG	2312	broad.mit.edu	37	1	152278698	152278698	+	Silent	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152278698T>G	ENST00000368799.1	-	3	8699	c.8664A>C	c.(8662-8664)ggA>ggC	p.G2888G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2888	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)			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)			TCACACTGGATCCCTGGCGCC	0.567									Ichthyosis																													ENST00000368799.1																			0				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						c.(8662-8664)ggA>ggC		filaggrin							89.0	144.0	127.0					1																	152278698		2045	4278	6323	SO:0001819	synonymous_variant	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.chr1:152278698T>G	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.8664A>C	1.37:g.152278698T>G						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2888G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8699	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2888			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8664A>C	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		106	325	0	0	0	1	0	106	325				
DNAH17	8632	broad.mit.edu	37	17	76490147	76490147	+	Missense_Mutation	SNP	C	C	T	rs199790803		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:76490147C>T	ENST00000585328.1	-	41	6488	c.6364G>A	c.(6364-6366)Gtc>Atc	p.V2122I	DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2113I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2113	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCATTCCCGACGATGAACACG	0.662																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6337-6339)Gtc>Atc		dynein, axonemal, heavy chain 17		C	ILE/VAL	1,4319		0,1,2159	33.0	39.0	37.0		6379	2.6	1.0	17		37	18,8494		0,18,4238	yes	missense	DNAH17	NM_173628.3	29	0,19,6397	TT,TC,CC		0.2115,0.0231,0.1481		2127/4463	76490147	19,12813	2160	4256	6416	SO:0001583	missense	8632							g.chr17:76490147C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6364G>A	17.37:g.76490147C>T	ENSP00000465516:p.Val2122Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.V2122I|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA	p.V2113I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		41	6461	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6337G>A		.	.	.	.	.	.	.	.	.	.	C	1.099	-0.661700	0.03454	2.31E-4	0.002115	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55234	0.53	4.84	2.62	0.31277	.	.	.	.	.	T	0.36608	0.0973	N	0.25031	0.7	0.25271	N	0.98952	.	.	.	.	.	.	T	0.23547	-1.0185	7	0.18276	T	0.48	.	8.1491	0.31130	0.0:0.3103:0.0:0.6897	.	.	.	.	I	2122;2113	ENSP00000374490:V2113I	ENSP00000300671:V2122I	V	-	1	0	DNAH17	74001742	0.999000	0.42202	1.000000	0.80357	0.055000	0.15305	0.949000	0.29109	0.673000	0.31224	-0.415000	0.06103	GTC		0.662	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		11	5	0	0	0	1	0	11	5				
LRRC36	55282	broad.mit.edu	37	16	67404868	67404868	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:67404868T>A	ENST00000329956.6	+	9	1236	c.1217T>A	c.(1216-1218)tTc>tAc	p.F406Y	LRRC36_ENST00000290940.7_Missense_Mutation_p.F138Y|LRRC36_ENST00000435835.3_Missense_Mutation_p.F285Y|LRRC36_ENST00000563189.1_Missense_Mutation_p.F285Y|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	406										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ACAACCCATTTCAACAGTGAC	0.473																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1216-1218)tTc>tAc		leucine rich repeat containing 36							191.0	165.0	174.0					16																	67404868		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67404868T>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1217T>A	16.37:g.67404868T>A	ENSP00000329943:p.Phe406Tyr					LRRC36_ENST00000563189.1_Missense_Mutation_p.F285Y|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.F285Y|LRRC36_ENST00000290940.7_Missense_Mutation_p.F138Y	p.F406Y	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	9	1236	+		Ovarian(137;0.192)	406					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1217T>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298343	0.60195	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.52754	2.98;0.65;1.26	5.7	3.28	0.37604	.	0.658399	0.15542	N	0.256886	T	0.60117	0.2244	L	0.56769	1.78	0.80722	D	1	B;P;D;D	0.62365	0.015;0.539;0.991;0.989	B;B;P;D	0.70487	0.016;0.12;0.801;0.969	T	0.58070	-0.7701	10	0.59425	D	0.04	-4.9654	7.8292	0.29332	0.3343:0.0:0.0:0.6657	.	285;138;285;406	B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	Y	406;138;285	ENSP00000329943:F406Y;ENSP00000290940:F138Y;ENSP00000411122:F285Y	ENSP00000290940:F138Y	F	+	2	0	LRRC36	65962369	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.211000	0.32382	0.961000	0.38030	0.459000	0.35465	TTC		0.473	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		148	7	0	0	0	1	0	148	7				
PFKP	5214	broad.mit.edu	37	10	3162118	3162118	+	Missense_Mutation	SNP	G	G	C	rs140443512		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr10:3162118G>C	ENST00000381125.4	+	16	1641	c.1565G>C	c.(1564-1566)cGg>cCg	p.R522P	PFKP_ENST00000381075.2_Missense_Mutation_p.R514P	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	522	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TCAGCCGCCCGGGAGAAGCAC	0.632											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1540-1542)cGg>cCg		phosphofructokinase, platelet							98.0	81.0	86.0					10																	3162118		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3162118G>C	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1565G>C	10.37:g.3162118G>C	ENSP00000370517:p.Arg522Pro		OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	PFKP_ENST00000381125.4_Missense_Mutation_p.R522P	p.R514P	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	18	1765	+			522					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1541G>C	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	34	5.328700	0.95733	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075	T;T	0.80994	-1.44;-1.44	5.7	5.7	0.88788	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95080	0.8212	10	0.87932	D	0	.	20.1982	0.98246	0.0:0.0:1.0:0.0	.	514;514;522	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	P	522;511;514	ENSP00000370517:R522P;ENSP00000370465:R514P	ENSP00000370465:R514P	R	+	2	0	PFKP	3152118	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.551000	0.98112	2.848000	0.98002	0.655000	0.94253	CGG		0.632	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		27	77	0	0	0	1	0	27	77				
CLCN1	1180	broad.mit.edu	37	7	143049003	143049003	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:143049003A>T	ENST00000343257.2	+	23	2999	c.2912A>T	c.(2911-2913)cAg>cTg	p.Q971L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	971					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACATCTTGCAGGGCCCCAGC	0.637																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2911-2913)cAg>cTg		chloride channel, voltage-sensitive 1							73.0	75.0	74.0					7																	143049003		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143049003A>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2912A>T	7.37:g.143049003A>T	ENSP00000339867:p.Gln971Leu						p.Q971L	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			23	2999	+	Melanoma(164;0.205)		971					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2912A>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509284	0.44660	.	.	ENSG00000188037	ENST00000343257	D	0.85484	-1.99	4.49	4.49	0.54785	.	0.522077	0.18275	N	0.146181	T	0.81851	0.4910	L	0.56769	1.78	0.26242	N	0.978857	P;B	0.38504	0.634;0.361	B;B	0.39258	0.295;0.034	T	0.76777	-0.2834	10	0.62326	D	0.03	.	8.2587	0.31771	0.9083:0.0:0.0917:0.0	.	170;971	Q75L28;P35523	.;CLCN1_HUMAN	L	971	ENSP00000339867:Q971L	ENSP00000339867:Q971L	Q	+	2	0	CLCN1	142759125	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.323000	0.33701	1.788000	0.52465	0.459000	0.35465	CAG		0.637	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		48	10	0	0	0	1	0	48	10				
SNHG14	104472715	broad.mit.edu	37	15	25475858	25475858	+	RNA	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr15:25475858T>G	ENST00000453082.2	+	0	1453				SNORD115-32_ENST00000364079.1_RNA|SNORD115-33_ENST00000363723.1_RNA|SNORD115-34_ENST00000362441.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGCCAGTGTCCATCAGCCA	0.612																																						ENST00000453082.2																			0																																																			0							g.chr15:25475858T>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25475858T>G								NR_003343.1						0	1453	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.612	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			18	44	0	0	0	1	0	18	44				
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:48382317T>A	ENST00000222002.3	-	4	682	c.543A>T	c.(541-543)ttA>ttT	p.L181F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CATAACTCAGTAACAGGAAGT	0.463																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(541-543)ttA>ttT		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							201.0	197.0	198.0					19																	48382317		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48382317T>A	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.543A>T	19.37:g.48382317T>A	ENSP00000222002:p.Leu181Phe						p.L181F	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	4	682	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	181						Missense_Mutation	SNP	ENST00000222002.3	37	c.543A>T	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	1.184	-0.637249	0.03557	.	.	ENSG00000105398	ENST00000222002	D	0.81659	-1.52	3.76	-7.53	0.01336	Sulfotransferase domain (1);	1.686880	0.04101	N	0.312906	T	0.46464	0.1394	N	0.00690	-1.25	0.09310	N	1	B	0.18166	0.026	B	0.24155	0.051	T	0.56111	-0.8033	10	0.05620	T	0.96	.	10.7669	0.46299	0.0:0.5799:0.2882:0.1319	.	181	Q06520	ST2A1_HUMAN	F	181	ENSP00000222002:L181F	ENSP00000222002:L181F	L	-	3	2	SULT2A1	53074129	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.249000	0.08842	-1.731000	0.01360	-0.408000	0.06270	TTA		0.463	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		20	186	0	0	0	1	0	20	186				
CTCFL	140690	broad.mit.edu	37	20	56093864	56093864	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:56093864T>C	ENST00000608263.1	-	4	1670	c.1009A>G	c.(1009-1011)Act>Gct	p.T337A	CTCFL_ENST00000433949.3_Missense_Mutation_p.T132A|CTCFL_ENST00000608425.1_Missense_Mutation_p.T337A|CTCFL_ENST00000609232.1_Missense_Mutation_p.T337A|CTCFL_ENST00000608903.1_Missense_Mutation_p.T75A|CTCFL_ENST00000502686.2_Missense_Mutation_p.T75A|CTCFL_ENST00000608158.1_Missense_Mutation_p.T337A|CTCFL_ENST00000429804.3_Missense_Mutation_p.T337A|CTCFL_ENST00000481655.2_Missense_Mutation_p.T337A|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.T337A|CTCFL_ENST00000422869.2_Missense_Mutation_p.T337A|CTCFL_ENST00000608440.1_Missense_Mutation_p.T337A|CTCFL_ENST00000243914.3_Missense_Mutation_p.T337A|CTCFL_ENST00000539382.1_Missense_Mutation_p.T132A|CTCFL_ENST00000432255.2_Missense_Mutation_p.T337A|CTCFL_ENST00000423479.3_Missense_Mutation_p.T337A	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	337					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCTCATGAGTATGTTTATAG	0.458																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1009-1011)Act>Gct		CCCTC-binding factor (zinc finger protein)-like							188.0	167.0	174.0					20																	56093864		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093864T>C		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1009A>G	20.37:g.56093864T>C	ENSP00000476783:p.Thr337Ala					CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.T337A|CTCFL_ENST00000422109.2_Missense_Mutation_p.T337A|CTCFL_ENST00000502686.2_Missense_Mutation_p.T75A|CTCFL_ENST00000432255.2_Missense_Mutation_p.T337A|CTCFL_ENST00000423479.2_Missense_Mutation_p.T337A|CTCFL_ENST00000433949.2_Missense_Mutation_p.T337A|CTCFL_ENST00000243914.3_Missense_Mutation_p.T337A|CTCFL_ENST00000422869.2_Missense_Mutation_p.T337A|CTCFL_ENST00000539382.1_Missense_Mutation_p.T132A|CTCFL_ENST00000429804.2_Missense_Mutation_p.T337A	p.T337A			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1670	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		337					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1009A>G	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811665	0.70797	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	4.77	4.77	0.60923	Zinc finger, C2H2 (1);	0.000000	0.42821	D	0.000652	T	0.46756	0.1409	L	0.59912	1.85	0.50171	D	0.999853	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;0.996;0.998;0.998;0.998;0.998	T	0.47873	-0.9083	10	0.87932	D	0	-20.5785	13.5812	0.61905	0.0:0.0:0.0:1.0	.	337;337;337;337;337;337;337;337	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	A	337;337;337;337;337;75;337;337;337;132;337	ENSP00000415579:T337A;ENSP00000243914:T337A;ENSP00000360239:T337A;ENSP00000415329:T337A;ENSP00000392034:T337A;ENSP00000437999:T75A;ENSP00000413713:T337A;ENSP00000403369:T337A;ENSP00000409344:T337A;ENSP00000439998:T132A;ENSP00000399061:T337A	ENSP00000243914:T337A	T	-	1	0	CTCFL	55527270	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	5.778000	0.68940	1.902000	0.55061	0.482000	0.46254	ACT		0.458	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		65	53	0	0	0	1	0	65	53				
DTNA	1837	broad.mit.edu	37	18	32428344	32428344	+	Silent	SNP	G	G	C	rs202088347		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr18:32428344G>C	ENST00000399113.3	+	13	1350	c.1350G>C	c.(1348-1350)tcG>tcC	p.S450S	DTNA_ENST00000599844.1_Silent_p.S72S|DTNA_ENST00000269192.7_Silent_p.S159S|DTNA_ENST00000598334.1_Silent_p.S390S|DTNA_ENST00000598142.1_Silent_p.S393S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Silent_p.S72S|DTNA_ENST00000283365.9_Silent_p.S393S|DTNA_ENST00000597599.1_Silent_p.S390S|DTNA_ENST00000595022.1_Silent_p.S390S|DTNA_ENST00000444659.1_Silent_p.S450S|DTNA_ENST00000591182.1_Silent_p.S98S|DTNA_ENST00000269191.6_Silent_p.S450S|DTNA_ENST00000348997.5_Silent_p.S447S|DTNA_ENST00000556414.3_Silent_p.S102S|DTNA_ENST00000399097.3_Silent_p.S98S|DTNA_ENST00000269190.7_Silent_p.S451S|DTNA_ENST00000598774.1_Silent_p.S393S|DTNA_ENST00000399121.5_Silent_p.S390S|DTNA_ENST00000597674.1_Silent_p.S72S			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	450	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTCCTCTTCGTCTGTAAGTA	0.428																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1177-1179)tcG>tcC		dystrobrevin, alpha							74.0	68.0	70.0					18																	32428344		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32428344G>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1350G>C	18.37:g.32428344G>C						DTNA_ENST00000597674.1_Silent_p.S72S|DTNA_ENST00000269191.6_Silent_p.S450S|DTNA_ENST00000591182.1_Silent_p.S98S|DTNA_ENST00000556414.3_Silent_p.S102S|DTNA_ENST00000599844.1_Silent_p.S72S|DTNA_ENST00000598334.1_Silent_p.S390S|DTNA_ENST00000601125.1_Silent_p.S72S|DTNA_ENST00000348997.5_Silent_p.S447S|DTNA_ENST00000598142.1_Silent_p.S393S|DTNA_ENST00000399097.3_Silent_p.S98S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598774.1_Silent_p.S393S|DTNA_ENST00000597599.1_Silent_p.S390S|DTNA_ENST00000444659.1_Silent_p.S450S|DTNA_ENST00000595022.1_Silent_p.S390S|DTNA_ENST00000399121.5_Silent_p.S390S|DTNA_ENST00000269190.7_Silent_p.S451S|DTNA_ENST00000399113.3_Silent_p.S450S|DTNA_ENST00000269192.7_Silent_p.S159S	p.S393S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			13	1530	+			450					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.1179G>C	CCDS59311.1																																																																																				0.428	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		16	13	0	0	0	1	0	16	13				
LCT	3938	broad.mit.edu	37	2	136567176	136567176	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:136567176G>T	ENST00000264162.2	-	8	2751	c.2741C>A	c.(2740-2742)tCc>tAc	p.S914Y	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	914	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGATAAGCGGAAGAGGACAC	0.517																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2740-2742)tCc>tAc		lactase							76.0	81.0	79.0					2																	136567176		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567176G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2741C>A	2.37:g.136567176G>T	ENSP00000264162:p.Ser914Tyr						p.S914Y	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2751	-			914			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2741C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.535912	0.64972	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.38077	1.16	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.358016	0.33515	N	0.004824	T	0.71358	0.3330	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77998	-0.2376	10	0.87932	D	0	-13.5412	20.0139	0.97470	0.0:0.0:1.0:0.0	.	914	P09848	LPH_HUMAN	Y	914;346	ENSP00000264162:S914Y	ENSP00000264162:S914Y	S	-	2	0	LCT	136283646	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.972000	0.88022	2.724000	0.93272	0.563000	0.77884	TCC		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	117	1	0	0.00909568	1	0.00909568	4	117				
OR51A2	401667	broad.mit.edu	37	11	4976601	4976601	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:4976601A>G	ENST00000380371.1	-	1	342	c.343T>C	c.(343-345)Tca>Cca	p.S115P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAGGACTGAGGACTCCAGT	0.453																																						ENST00000380371.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(343-345)Tca>Cca		olfactory receptor, family 51, subfamily A, member 2							100.0	76.0	84.0					11																	4976601		1960	3530	5490	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976601A>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.343T>C	11.37:g.4976601A>G	ENSP00000369729:p.Ser115Pro					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.S115P	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	342	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	115						Missense_Mutation	SNP	ENST00000380371.1	37	c.343T>C	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.359	1.067566	0.20067	.	.	ENSG00000205496	ENST00000380371	T	0.37915	1.17	2.95	0.264	0.15607	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66327	0.2778	H	0.95328	3.655	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.55483	-0.8134	9	0.62326	D	0.03	.	8.7023	0.34334	0.6738:0.3262:0.0:0.0	.	115	Q8NGJ7	O51A2_HUMAN	P	115	ENSP00000369729:S115P	ENSP00000369729:S115P	S	-	1	0	OR51A2	4933177	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	0.297000	0.19101	-0.065000	0.13021	0.325000	0.21440	TCA		0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		4	68	0	0	0	1	0	4	68				
AHNAK2	113146	broad.mit.edu	37	14	105416359	105416359	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr14:105416359G>C	ENST00000333244.5	-	7	5548	c.5429C>G	c.(5428-5430)tCc>tGc	p.S1810C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1810						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCCAGGGACAGGTCACC	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5428-5430)tCc>tGc		AHNAK nucleoprotein 2							144.0	175.0	165.0					14																	105416359		1991	4139	6130	SO:0001583	missense	113146					nucleus		g.chr14:105416359G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5429C>G	14.37:g.105416359G>C	ENSP00000353114:p.Ser1810Cys					AHNAK2_ENST00000557457.1_Intron	p.S1810C	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5548	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1810					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5429C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.03	2.412485	0.42817	.	.	ENSG00000185567	ENST00000333244	T	0.00695	5.83	4.3	-2.75	0.05914	.	.	.	.	.	T	0.01905	0.0060	M	0.79805	2.47	0.09310	N	1	D	0.63046	0.992	P	0.54431	0.752	T	0.34825	-0.9813	9	0.59425	D	0.04	.	1.9613	0.03387	0.3031:0.0958:0.4036:0.1975	.	1810	Q8IVF2	AHNK2_HUMAN	C	1810	ENSP00000353114:S1810C	ENSP00000353114:S1810C	S	-	2	0	AHNAK2	104487404	.	.	0.000000	0.03702	0.090000	0.18270	.	.	-0.308000	0.08792	0.456000	0.33151	TCC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	632	0	0	0	1	0	9	632				
PDCD5	9141	broad.mit.edu	37	19	33077794	33077794	+	Nonsense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:33077794A>T	ENST00000590247.2	+	5	483	c.289A>T	c.(289-291)Aaa>Taa	p.K97*	PDCD5_ENST00000586035.1_Nonsense_Mutation_p.K59*|PDCD5_ENST00000592786.1_Nonstop_Mutation_p.*66L|PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000379316.3_Intron	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	97					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGAAATCCTTAAAAAAGTAAG	0.323																																						ENST00000590247.1																			0				breast(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(289-291)Aaa>Taa		programmed cell death 5							81.0	87.0	85.0					19																	33077794		2203	4300	6503	SO:0001587	stop_gained	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33077794A>T	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.289A>T	19.37:g.33077794A>T	ENSP00000466214:p.Lys97*					PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Nonsense_Mutation_p.K59*|PDCD5_ENST00000592786.1_Nonstop_Mutation_p.*66L	p.K97*	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN			5	483	+	Esophageal squamous(110;0.137)		97					B4DE64|Q53YC9|Q6IB70	Nonsense_Mutation	SNP	ENST00000590247.2	37	c.289A>T	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682277	0.88542	.	.	ENSG00000105185	ENST00000221784	.	.	.	5.63	4.6	0.57074	.	0.044457	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.4516	0.61174	0.0773:0.0:0.9227:0.0	.	.	.	.	X	97	.	ENSP00000221784:K97X	K	+	1	0	PDCD5	37769634	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.778000	0.68940	1.356000	0.45884	-0.475000	0.04921	AAA		0.323	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		25	53	0	0	0	1	0	25	53				
DOCK10	55619	broad.mit.edu	37	2	225639777	225639777	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:225639777G>A	ENST00000258390.7	-	52	5925	c.5858C>T	c.(5857-5859)aCg>aTg	p.T1953M	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1947M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1953	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAGAACGGCGTCACATAGGT	0.493																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5839-5841)aCg>aTg		dedicator of cytokinesis 10							85.0	86.0	86.0					2																	225639777		1979	4186	6165	SO:0001583	missense	55619						GTP binding	g.chr2:225639777G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5858C>T	2.37:g.225639777G>A	ENSP00000258390:p.Thr1953Met					DOCK10_ENST00000258390.7_Missense_Mutation_p.T1953M	p.T1947M			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	52	5953	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1953			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5840C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776817	0.49786	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.20332	2.08;2.08	5.48	5.48	0.80851	.	0.104285	0.64402	D	0.000003	T	0.36936	0.0985	M	0.65975	2.015	0.43896	D	0.996527	D;D;P	0.54397	0.966;0.966;0.773	P;P;B	0.50049	0.512;0.629;0.154	T	0.09357	-1.0678	10	0.54805	T	0.06	.	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1953;1947;615	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	M	1947;1953;460	ENSP00000386694:T1947M;ENSP00000258390:T1953M	ENSP00000258390:T1953M	T	-	2	0	DOCK10	225348021	1.000000	0.71417	0.960000	0.40013	0.939000	0.58152	5.258000	0.65479	2.724000	0.93272	0.563000	0.77884	ACG		0.493	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			15	23	0	0	0	1	0	15	23				
COL24A1	255631	broad.mit.edu	37	1	86210421	86210421	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:86210421G>A	ENST00000370571.2	-	57	4966	c.4600C>T	c.(4600-4602)Cct>Tct	p.P1534S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1513S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1534	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTGCCAAGAGGATTCTTGATG	0.393																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4600-4602)Cct>Tct		collagen, type XXIV, alpha 1							197.0	182.0	187.0					1																	86210421		1875	4106	5981	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210421G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4600C>T	1.37:g.86210421G>A	ENSP00000359603:p.Pro1534Ser					COL24A1_ENST00000436319.1_Missense_Mutation_p.P1513S	p.P1534S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	4966	-			1534			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4600C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867325	0.72065	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.89415	-2.51;-2.51	5.49	5.49	0.81192	Fibrillar collagen, C-terminal (3);	0.000000	0.35838	N	0.002947	D	0.96040	0.8710	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96336	0.9247	10	0.72032	D	0.01	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	1534;1513	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	S	1534;1513	ENSP00000359603:P1534S;ENSP00000392531:P1513S	ENSP00000359603:P1534S	P	-	1	0	COL24A1	85983009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.740000	0.93945	0.563000	0.77884	CCT		0.393	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		16	37	0	0	0	1	0	16	37				
NLRP10	338322	broad.mit.edu	37	11	7984813	7984813	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:7984813C>T	ENST00000328600.2	-	1	391	c.230G>A	c.(229-231)gGc>gAc	p.G77D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCTTCAAGCCCTTGAGGAC	0.542																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(229-231)gGc>gAc		NLR family, pyrin domain containing 10							100.0	94.0	96.0					11																	7984813		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7984813C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.230G>A	11.37:g.7984813C>T	ENSP00000327763:p.Gly77Asp						p.G77D	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	391	-			77			DAPIN.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.230G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801455	0.16397	.	.	ENSG00000182261	ENST00000328600	T	0.47528	0.84	3.66	-3.99	0.04069	Pyrin (2);DEATH-like (2);	1.452200	0.04704	N	0.416377	T	0.38321	0.1036	N	0.22421	0.69	0.09310	N	1	P	0.38335	0.627	P	0.44422	0.449	T	0.47724	-0.9095	10	0.87932	D	0	.	7.1214	0.25446	0.2347:0.5588:0.2065:0.0	.	77	Q86W26	NAL10_HUMAN	D	77	ENSP00000327763:G77D	ENSP00000327763:G77D	G	-	2	0	NLRP10	7941389	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.024000	0.12435	-0.760000	0.04677	-0.309000	0.09137	GGC		0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		35	4	0	0	0	1	0	35	4				
EGF	1950	broad.mit.edu	37	4	110866382	110866382	+	Silent	SNP	A	A	C	rs146585233		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr4:110866382A>C	ENST00000265171.5	+	5	1336	c.891A>C	c.(889-891)gtA>gtC	p.V297V	EGF_ENST00000503392.1_Silent_p.V297V|EGF_ENST00000509793.1_Silent_p.V297V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	297					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AACTGAAAGTAGTGCATCCAC	0.463													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17161	0.0		0.0	False		,,,				2504	0.0					ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(889-891)gtA>gtC		epidermal growth factor	Sulindac(DB00605)	A	,,	11,4395	17.9+/-39.9	0,11,2192	118.0	96.0	103.0		891,891,891	-10.8	0.0	4	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	,,	0,11,6492	CC,CA,AA		0.0,0.2497,0.0846	,,	297/1167,297/1166,297/1208	110866382	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110866382A>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.891A>C	4.37:g.110866382A>C						EGF_ENST00000503392.1_Silent_p.V297V|EGF_ENST00000509793.1_Silent_p.V297V	p.V297V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	5	1336	+		Hepatocellular(203;0.0893)	297					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.891A>C	CCDS3689.1																																																																																				0.463	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			15	15	0	0	0	1	0	15	15				
KRTAP10-7	386675	broad.mit.edu	37	21	46021513	46021513	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr21:46021513C>A	ENST00000380102.2	+	1	1017	c.992C>A	c.(991-993)cCc>cAc	p.P331H	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	331	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCCGTCCCCTCCTGCTGC	0.721																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(991-993)cCc>cAc		keratin associated protein 10-7							43.0	44.0	44.0					21																	46021513		2201	4288	6489	SO:0001583	missense	386675					keratin filament		g.chr21:46021513C>A	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.992C>A	21.37:g.46021513C>A	ENSP00000369445:p.Pro331His					TSPEAR_ENST00000323084.4_Intron	p.P331H	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	1017	+			331			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.992C>A		.	.	.	.	.	.	.	.	.	.	c	4.420	0.077723	0.08485	.	.	ENSG00000205441	ENST00000380102	T	0.00730	5.77	2.71	2.71	0.32032	.	.	.	.	.	T	0.01454	0.0047	M	0.71871	2.18	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.29027	-1.0025	9	0.62326	D	0.03	.	11.1532	0.48471	0.0:1.0:0.0:0.0	.	326	P60409-2	.	H	331	ENSP00000369445:P331H	ENSP00000369445:P331H	P	+	2	0	KRTAP10-7	44845941	0.192000	0.23301	0.631000	0.29282	0.040000	0.13550	0.805000	0.27112	1.526000	0.49068	0.467000	0.42956	CCC		0.721	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		11	154	1	0	6.40141e-05	1	6.48348e-05	11	154				
LRP1B	53353	broad.mit.edu	37	2	142237984	142237984	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:142237984G>C	ENST00000389484.3	-	3	1295	c.324C>G	c.(322-324)gaC>gaG	p.D108E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	108	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACTCCTTCGTCATACCCAT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(322-324)gaC>gaG		low density lipoprotein receptor-related protein 1B							101.0	86.0	91.0					2																	142237984		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142237984G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.324C>G	2.37:g.142237984G>C	ENSP00000374135:p.Asp108Glu	TSP Lung(27;0.18)					p.D108E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	3	1295	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	108			LDL-receptor class A 2.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.324C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669488	0.67814	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99194	-5.54	5.51	-1.15	0.09709	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.97587	4.035	0.33825	D	0.629562	D	0.89917	1.0	D	0.91635	0.999	D	0.99853	1.1074	10	0.87932	D	0	.	11.9053	0.52708	0.5424:0.0:0.4576:0.0	.	108	Q9NZR2	LRP1B_HUMAN	E	108;44	ENSP00000374135:D108E	ENSP00000374135:D108E	D	-	3	2	LRP1B	141954454	0.789000	0.28775	0.993000	0.49108	0.968000	0.65278	0.025000	0.13577	-0.076000	0.12775	-0.300000	0.09419	GAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	16	0	0	0	1	0	11	16				
SLC16A13	201232	broad.mit.edu	37	17	6941536	6941536	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:6941536C>G	ENST00000308027.6	+	3	717	c.409C>G	c.(409-411)Cga>Gga	p.R137G		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	137						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTCTCGCCGACGATCCCTGGC	0.597																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(409-411)Cga>Gga		solute carrier family 16, member 13							72.0	75.0	74.0					17																	6941536		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941536C>G	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.409C>G	17.37:g.6941536C>G	ENSP00000309751:p.Arg137Gly						p.R137G	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	717	+			137					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.409C>G	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143806	0.57044	.	.	ENSG00000174327	ENST00000308027	T	0.70282	-0.47	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.93328	3.405	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.90917	0.4780	10	0.72032	D	0.01	.	16.971	0.86300	0.0:1.0:0.0:0.0	.	137	Q7RTY0	MOT13_HUMAN	G	137	ENSP00000309751:R137G	ENSP00000309751:R137G	R	+	1	2	SLC16A13	6882260	0.856000	0.29760	0.916000	0.36221	0.546000	0.35178	1.664000	0.37439	2.602000	0.87976	0.563000	0.77884	CGA		0.597	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			44	7	0	0	0	1	0	44	7				
MBNL3	55796	broad.mit.edu	37	X	131573526	131573526	+	Silent	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:131573526G>T	ENST00000370853.3	-	1	192	c.114C>A	c.(112-114)gcC>gcA	p.A38A	MBNL3_ENST00000370839.3_Silent_p.A38A|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370857.3_Silent_p.A38A	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	38					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGGATGGGCAAACTTGC	0.433																																						ENST00000370857.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(112-114)gcC>gcA		muscleblind-like splicing regulator 3							161.0	151.0	155.0					X																	131573526		2203	4300	6503	SO:0001819	synonymous_variant	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131573526G>T	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.114C>A	X.37:g.131573526G>T						MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370839.3_Silent_p.A38A|MBNL3_ENST00000370853.3_Silent_p.A38A	p.A38A			Q9NUK0	MBNL3_HUMAN			1	179	-	Acute lymphoblastic leukemia(192;0.000127)		38					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Silent	SNP	ENST00000370853.3	37	c.114C>A	CCDS14633.1																																																																																				0.433	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		42	172	1	0	4.14481e-20	1	4.42486e-20	42	172				
FLG2	388698	broad.mit.edu	37	1	152325750	152325750	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152325750G>A	ENST00000388718.5	-	3	4584	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1504					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGTCACTGGACTCACTGT	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4510-4512)tcC>tcT		filaggrin family member 2							340.0	328.0	332.0					1																	152325750		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325750G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4512C>T	1.37:g.152325750G>A						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S1504S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1504					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4512C>T	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		95	212	0	0	0	1	0	95	212				
ACVR1	90	broad.mit.edu	37	2	158594952	158594952	+	Splice_Site	SNP	C	C	T	rs373855918		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:158594952C>T	ENST00000263640.3	-	10	1824	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000409283.2_Splice_Site_p.P465P|ACVR1_ENST00000434821.1_Splice_Site_p.P465P|ACVR1_ENST00000410057.2_Splice_Site_p.P465P	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCATTCTTACCGGGTCTGAGA	0.433																																						ENST00000263640.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19						c.e10+1		activin A receptor, type I	Adenosine triphosphate(DB00171)	C	,	0,4406		0,0,2203	232.0	209.0	217.0		1395,1395	2.7	1.0	2		217	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ACVR1	NM_001105.4,NM_001111067.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	465/510,465/510	158594952	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158594952C>T		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1395+1G>A	2.37:g.158594952C>T						ACVR1_ENST00000410057.2_Splice_Site_p.P465_splice|ACVR1_ENST00000409283.2_Splice_Site_p.P465_splice|ACVR1_ENST00000434821.1_Splice_Site_p.P465_splice	p.P465_splice	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	10	1824	-			465			Protein kinase.			Splice_Site	SNP	ENST00000263640.3	37	c.1395_splice	CCDS2206.1																																																																																				0.433	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105	Silent	21	80	0	0	0	1	0	21	80				
ARID1A	8289	broad.mit.edu	37	1	27100870	27100870	+	Missense_Mutation	SNP	C	C	G	rs149908828	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:27100870C>G	ENST00000324856.7	+	18	4523	c.4152C>G	c.(4150-4152)caC>caG	p.H1384Q	ARID1A_ENST00000374152.2_Missense_Mutation_p.H1001Q|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1384	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAAGCGGCACGAAGGGGAGA	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4150-4152)caC>caG		AT rich interactive domain 1A (SWI-like)							47.0	46.0	47.0					1																	27100870		2202	4300	6502	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100870C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4152C>G	1.37:g.27100870C>G	ENSP00000320485:p.His1384Gln					ARID1A_ENST00000374152.2_Missense_Mutation_p.H1001Q|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	p.H1384Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4523	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1384			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4152C>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.77|14.77	2.633180|2.633180	0.47049|0.47049	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	T;T|.	0.03496|.	4.05;3.91|.	5.51|5.51	-5.76|-5.76	0.02376|0.02376	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62636|0.62636	0.2444|0.2444	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.85130|.	0.997;0.992;0.992|.	T|T	0.64453|0.64453	-0.6404|-0.6404	10|5	0.21540|.	T|.	0.41|.	-11.7557|-11.7557	16.4934|16.4934	0.84208|0.84208	0.0:0.5252:0.0:0.4748|0.0:0.5252:0.0:0.4748	.|.	1001;1384;1037|.	O14497-3;O14497;Q4LE49|.	.;ARI1A_HUMAN;.|.	Q|G	1384;1001|281	ENSP00000320485:H1384Q;ENSP00000363267:H1001Q|.	ENSP00000320485:H1384Q|.	H|R	+|+	3|1	2|2	ARID1A|ARID1A	26973457|26973457	0.035000|0.035000	0.19736|0.19736	0.893000|0.893000	0.35052|0.35052	0.964000|0.964000	0.63967|0.63967	-0.904000|-0.904000	0.04080|0.04080	-0.952000|-0.952000	0.03649|0.03649	-1.066000|-1.066000	0.02275|0.02275	CAC|CGA		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	37	0	0	0	1	0	3	37				
APOBEC1	339	broad.mit.edu	37	12	7805124	7805124	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:7805124G>A	ENST00000229304.4	-	3	372	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	118					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAAAAAGCCGAGCTACGTAG	0.483																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(352-354)Cgg>Tgg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							80.0	76.0	77.0					12																	7805124		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805124G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.352C>T	12.37:g.7805124G>A	ENSP00000229304:p.Arg118Trp						p.R118W	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			3	372	-			118					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.352C>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610202	0.28712	.	.	ENSG00000111701	ENST00000229304	T	0.68331	-0.32	4.78	2.88	0.33553	APOBEC-like, N-terminal (1);	0.000000	0.49916	D	0.000136	D	0.83613	0.5292	M	0.92169	3.28	0.28713	N	0.903447	D	0.89917	1.0	D	0.91635	0.999	T	0.78666	-0.2115	10	0.87932	D	0	-21.1782	10.2799	0.43532	0.0:0.0:0.6418:0.3582	.	118	P41238	ABEC1_HUMAN	W	118	ENSP00000229304:R118W	ENSP00000229304:R118W	R	-	1	2	APOBEC1	7696391	0.645000	0.27286	0.430000	0.26722	0.001000	0.01503	1.034000	0.30204	0.518000	0.28383	-0.268000	0.10319	CGG		0.483	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		31	30	0	0	0	1	0	31	30				
GPATCH2	55105	broad.mit.edu	37	1	217793423	217793423	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:217793423G>A	ENST00000366935.3	-	2	585	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R159C	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	159					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTCCTCCTGCGCAGAGTTCTA	0.473																																						ENST00000366935.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(475-477)Cgc>Tgc		G patch domain containing 2							173.0	157.0	163.0					1																	217793423		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217793423G>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.475C>T	1.37:g.217793423G>A	ENSP00000355902:p.Arg159Cys					GPATCH2_ENST00000366934.3_Missense_Mutation_p.R159C	p.R159C	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	2	585	-			159					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.475C>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690333	0.68271	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.63744	0.49;-0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79752	-0.1671	10	0.87932	D	0	.	14.5683	0.68194	0.0:0.0:0.8538:0.1462	.	159;159	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	C	159	ENSP00000355902:R159C;ENSP00000355901:R159C	ENSP00000355901:R159C	R	-	1	0	GPATCH2	215860046	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.885000	0.56182	2.658000	0.90341	0.591000	0.81541	CGC		0.473	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		37	32	0	0	0	1	0	37	32				
TFDP3	51270	broad.mit.edu	37	X	132351648	132351648	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:132351648T>G	ENST00000310125.4	-	1	728	c.640A>C	c.(640-642)Aaa>Caa	p.K214Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	214	DCB1. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCAGACTGTTTCTGCTTTATT	0.458																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(640-642)Aaa>Caa		transcription factor Dp family, member 3							141.0	133.0	136.0					X																	132351648		2200	4299	6499	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351648T>G	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.640A>C	X.37:g.132351648T>G	ENSP00000385461:p.Lys214Gln						p.K214Q	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	728	-	Acute lymphoblastic leukemia(192;0.000127)		214			DCB1 (By similarity).|Involved in negatively regulating E2F activity.		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.640A>C	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	t	13.48	2.249907	0.39797	.	.	ENSG00000183434	ENST00000310125	T	0.53857	0.6	0.208	0.208	0.15221	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.70736	0.3258	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68465	-0.5401	9	0.87932	D	0	.	4.7322	0.12970	0.0:3.0E-4:0.0:0.9997	.	214	Q5H9I0	TFDP3_HUMAN	Q	214	ENSP00000385461:K214Q	ENSP00000385461:K214Q	K	-	1	0	TFDP3	132179314	1.000000	0.71417	0.021000	0.16686	0.021000	0.10359	3.478000	0.53158	0.227000	0.20999	0.225000	0.17782	AAA		0.458	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		6	120	0	0	0	1	0	6	120				
INSC	387755	broad.mit.edu	37	11	15260618	15260618	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:15260618G>C	ENST00000379554.3	+	11	1578	c.1532G>C	c.(1531-1533)aGc>aCc	p.S511T	INSC_ENST00000525218.1_Missense_Mutation_p.S422T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.S464T|INSC_ENST00000530161.1_Missense_Mutation_p.S464T|INSC_ENST00000379556.3_Missense_Mutation_p.S464T|INSC_ENST00000424273.1_Missense_Mutation_p.S422T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	511					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GTGCGGCTCAGCTGTGAGTGG	0.617																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1531-1533)aGc>aCc		inscuteable homolog (Drosophila)							36.0	38.0	37.0					11																	15260618		2103	4218	6321	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260618G>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1532G>C	11.37:g.15260618G>C	ENSP00000368872:p.Ser511Thr					INSC_ENST00000379556.3_Missense_Mutation_p.S464T|INSC_ENST00000525218.1_Missense_Mutation_p.S422T|INSC_ENST00000530161.1_Missense_Mutation_p.S464T|INSC_ENST00000424273.1_Missense_Mutation_p.S422T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.S464T	p.S511T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			11	1578	+			511					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1532G>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.275086	0.40194	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.171847	0.53938	D	0.000041	T	0.31071	0.0785	N	0.22421	0.69	0.29713	N	0.839275	P;B;B;B	0.38195	0.622;0.11;0.372;0.372	B;B;B;B	0.36092	0.217;0.056;0.114;0.114	T	0.22521	-1.0214	10	0.22706	T	0.39	-21.2804	10.2142	0.43158	0.1471:0.0:0.8529:0.0	.	499;422;464;511	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	T	511;464;422;464;464;422	ENSP00000368872:S511T;ENSP00000368874:S464T;ENSP00000389161:S422T;ENSP00000435022:S464T;ENSP00000436194:S464T;ENSP00000436113:S422T	ENSP00000368872:S511T	S	+	2	0	INSC	15217194	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.723000	0.54955	2.672000	0.90937	0.655000	0.94253	AGC		0.617	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		16	19	0	0	0	1	0	16	19				
MT-CYB	4519	broad.mit.edu	37	M	15350	15350	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrM:15350G>A	ENST00000361789.2	+	1	604	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	202					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TATTCTTGCACGAAACGGGAT	0.478											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(604-606)Gaa>Aaa		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15350G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.604G>A	M.37:g.15350G>A	ENSP00000354554:p.Glu202Lys		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.202_202insK							1	604	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.604G>A																																																																																					0.478	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		95	7	0	0	0	1	0	95	7				
GOPC	57120	broad.mit.edu	37	6	117890850	117890850	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:117890850C>T	ENST00000368498.2	-	7	1037	c.962G>A	c.(961-963)gGg>gAg	p.G321E	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.G313E|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000535237.1_Missense_Mutation_p.G321E	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	321	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		AGCAGGTTGCCCCGGATGGAT	0.458			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(961-963)gGg>gAg		golgi-associated PDZ and coiled-coil motif containing							171.0	168.0	169.0					6																	117890850		2203	4300	6503	SO:0001583	missense	57120							g.chr6:117890850C>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.962G>A	6.37:g.117890850C>T	ENSP00000357484:p.Gly321Glu					GOPC_ENST00000467125.1_5'UTR|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G321E|GOPC_ENST00000052569.6_Missense_Mutation_p.G313E	p.G321E						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	7	1191	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.962G>A	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520780	0.85495	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.40476	1.03;1.03;1.03	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.162346	0.56097	D	0.000036	T	0.50017	0.1591	M	0.74389	2.26	0.80722	D	1	D;D;P	0.56968	0.973;0.978;0.953	P;P;P	0.54856	0.65;0.762;0.65	T	0.54964	-0.8214	10	0.72032	D	0.01	-20.3884	15.1425	0.72620	0.0:0.8591:0.1409:0.0	.	313;321;321	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	E	313;321;321	ENSP00000052569:G313E;ENSP00000357484:G321E;ENSP00000445690:G321E	ENSP00000052569:G313E	G	-	2	0	GOPC	117997543	0.862000	0.29867	0.994000	0.49952	0.956000	0.61745	3.007000	0.49536	2.707000	0.92482	0.557000	0.71058	GGG		0.458	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		4	180	0	0	0	1	0	4	180				
ITGA3	3675	broad.mit.edu	37	17	48165680	48165680	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:48165680G>A	ENST00000320031.8	+	25	3467	c.3137G>A	c.(3136-3138)aGg>aAg	p.R1046K	ITGA3_ENST00000007722.7_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1046					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAGACAGAGAGGCTGACCGAC	0.697																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(3136-3138)aGg>aAg		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							12.0	15.0	14.0					17																	48165680		2176	4268	6444	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48165680G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.3137G>A	17.37:g.48165680G>A	ENSP00000315190:p.Arg1046Lys					ITGA3_ENST00000007722.7_Intron	p.R1046K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			25	3467	+			1046					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.3137G>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012195	0.75046	.	.	ENSG00000005884	ENST00000538917;ENST00000320031	T	0.24723	1.84	5.1	5.1	0.69264	.	.	.	.	.	T	0.22975	0.0555	L	0.43923	1.385	0.80722	D	1	P	0.48503	0.911	B	0.39185	0.293	T	0.02450	-1.1157	9	0.37606	T	0.19	.	15.4188	0.74995	0.0:0.0:1.0:0.0	.	1046	P26006	ITA3_HUMAN	K	1032;1046	ENSP00000315190:R1046K	ENSP00000315190:R1046K	R	+	2	0	ITGA3	45520679	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.759000	0.47573	2.387000	0.81309	0.462000	0.41574	AGG		0.697	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		7	7	0	0	0	1	0	7	7				
P2RX6	9127	broad.mit.edu	37	22	21377577	21377577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr22:21377577G>T	ENST00000413302.2	+	7	800	c.652G>T	c.(652-654)Gag>Tag	p.E218*	P2RX6_ENST00000443995.3_Nonsense_Mutation_p.E165*|P2RX6_ENST00000401443.1_Nonsense_Mutation_p.E192*|P2RX6_ENST00000336296.2_Nonsense_Mutation_p.E208*|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	218					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CAATGCCTTGGAGACCTGGGA	0.562																																						ENST00000413302.2																			0											c.(652-654)Gag>Tag		purinergic receptor P2X, ligand-gated ion channel, 6							138.0	136.0	137.0					22																	21377577		2203	4300	6503	SO:0001587	stop_gained	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21377577G>T		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.652G>T	22.37:g.21377577G>T	ENSP00000416193:p.Glu218*					P2RX6_ENST00000401443.1_Nonsense_Mutation_p.E192*|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Nonsense_Mutation_p.E165*|P2RX6_ENST00000336296.2_Nonsense_Mutation_p.E208*	p.E218*			O15547	P2RX6_HUMAN			7	800	+			218					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Nonsense_Mutation	SNP	ENST00000413302.2	37	c.652G>T	CCDS13788.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885509	0.91814	.	.	ENSG00000099957	ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995	.	.	.	5.44	1.83	0.25207	.	1.052620	0.07458	N	0.900052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.2266	6.5855	0.22618	0.1704:0.0:0.6886:0.1409	.	.	.	.	X	218;208;192;165	.	ENSP00000338797:E208X	E	+	1	0	P2RX6	19707577	0.021000	0.18746	0.078000	0.20375	0.925000	0.55904	0.611000	0.24268	0.252000	0.21531	0.655000	0.94253	GAG		0.562	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		90	10	1	0	5.92634e-42	1	6.41343e-42	90	10				
MT-ND2	4536	broad.mit.edu	37	M	2733	2733	+	5'Flank	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrM:2733G>A	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						gaagaccctatggagctttaa	0.473																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2733G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2733G>A	Exception_encountered							NR_039705.1						0	1063	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.473	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		80	6	0	0	0	1	0	80	6				
CARD11	84433	broad.mit.edu	37	7	2987238	2987238	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:2987238G>A	ENST00000396946.4	-	3	594	c.191C>T	c.(190-192)cCt>cTt	p.P64L	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	64	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGCAGCATAGGGGCATTAAG	0.537			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(190-192)cCt>cTt		caspase recruitment domain family, member 11							254.0	188.0	210.0					7																	2987238		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2987238G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.191C>T	7.37:g.2987238G>A	ENSP00000380150:p.Pro64Leu						p.P64L	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	594	-		Ovarian(82;0.0115)	64			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.191C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	4.044	0.005881	0.07866	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.26660	1.72;1.96	5.32	5.32	0.75619	DEATH-like (2);Caspase Recruitment (2);	0.280979	0.37761	N	0.001947	T	0.15435	0.0372	N	0.16233	0.39	0.47123	D	0.99932	B	0.09022	0.002	B	0.12837	0.008	T	0.09930	-1.0652	10	0.12430	T	0.62	-40.8466	13.206	0.59795	0.0833:0.0:0.9167:0.0	.	64	Q9BXL7	CAR11_HUMAN	L	64	ENSP00000380150:P64L;ENSP00000348779:P64L	ENSP00000348779:P64L	P	-	2	0	CARD11	2953764	0.959000	0.32827	0.998000	0.56505	0.886000	0.51366	1.439000	0.35013	2.668000	0.90789	0.650000	0.86243	CCT		0.537	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		36	58	0	0	0	1	0	36	58				
HSPBP1	23640	broad.mit.edu	37	19	55789014	55789014	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:55789014G>A	ENST00000255631.5	-	4	721	c.411C>T	c.(409-411)gcC>gcT	p.A137A	HSPBP1_ENST00000433386.2_Silent_p.A137A|HSPBP1_ENST00000376343.3_Silent_p.A137A|HSPBP1_ENST00000587922.1_Silent_p.A137A	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	140					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGTACCTGCGGCATTGTCCA	0.672																																						ENST00000255631.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(409-411)gcC>gcT		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							34.0	34.0	34.0					19																	55789014		2202	4300	6502	SO:0001819	synonymous_variant	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55789014G>A		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.411C>T	19.37:g.55789014G>A						HSPBP1_ENST00000433386.2_Silent_p.A137A|HSPBP1_ENST00000376343.3_Silent_p.A137A|HSPBP1_ENST00000587922.1_Silent_p.A137A	p.A137A	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	721	-			140					B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	ENST00000255631.5	37	c.411C>T	CCDS33111.1																																																																																				0.672	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		7	16	0	0	0	1	0	7	16				
MEPCE	56257	broad.mit.edu	37	7	100028470	100028470	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:100028470G>A	ENST00000310512.2	+	1	1217	c.829G>A	c.(829-831)Gga>Aga	p.G277R	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	277					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCAGCCGGAGGGAGTGA	0.662																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(829-831)Gga>Aga		methylphosphate capping enzyme							84.0	92.0	89.0					7																	100028470		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028470G>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.829G>A	7.37:g.100028470G>A	ENSP00000308546:p.Gly277Arg					MEPCE_ENST00000414441.1_5'UTR	p.G277R	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1217	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		277					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.829G>A	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802299	0.50315	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.73	4.73	0.59995	.	0.141453	0.45606	D	0.000352	T	0.61211	0.2329	L	0.29908	0.895	0.44085	D	0.996849	D	0.89917	1.0	D	0.74348	0.983	T	0.53878	-0.8376	9	0.17369	T	0.5	-8.0857	13.0657	0.59032	0.0:0.0:1.0:0.0	.	277	Q7L2J0	MEPCE_HUMAN	R	277	.	ENSP00000308546:G277R	G	+	1	0	MEPCE	99866406	0.997000	0.39634	0.990000	0.47175	0.555000	0.35460	2.826000	0.48104	2.461000	0.83175	0.462000	0.41574	GGA		0.662	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	154	0	0	0	1	0	4	154				
SCNN1B	6338	broad.mit.edu	37	16	23366760	23366760	+	Silent	SNP	C	C	G	rs148125384		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:23366760C>G	ENST00000343070.2	+	4	902	c.726C>G	c.(724-726)ggC>ggG	p.G242G	SCNN1B_ENST00000307331.5_Silent_p.G287G|SCNN1B_ENST00000568085.1_Silent_p.G242G|SCNN1B_ENST00000568923.1_Silent_p.G215G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	242					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GCTACCCCGGCGAGCAGATGA	0.617																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(724-726)ggC>ggG		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						87.0	73.0	78.0					16																	23366760		2197	4300	6497	SO:0001819	synonymous_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23366760C>G	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.726C>G	16.37:g.23366760C>G						SCNN1B_ENST00000307331.5_Silent_p.G287G|SCNN1B_ENST00000568085.1_Silent_p.G242G|SCNN1B_ENST00000568923.1_Silent_p.G215G	p.G242G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	4	902	+			242					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.726C>G	CCDS10609.1																																																																																				0.617	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			37	3	0	0	0	1	0	37	3				
LRP2	4036	broad.mit.edu	37	2	170025162	170025162	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:170025162T>C	ENST00000263816.3	-	61	11807	c.11522A>G	c.(11521-11523)tAc>tGc	p.Y3841C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3841	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCCTGGCAGTATGCACCATC	0.428																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11521-11523)tAc>tGc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						85.0	78.0	81.0					2																	170025162		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170025162T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11522A>G	2.37:g.170025162T>C	ENSP00000263816:p.Tyr3841Cys						p.Y3841C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	61	11807	-			3841			LDL-receptor class A 34.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11522A>G	CCDS2232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.60|19.60	3.857437|3.857437	0.71834|0.71834	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000536293|ENST00000263816	.|D	.|0.91295	.|-2.82	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.057065	.|0.64402	.|D	.|0.000001	D|D	0.93641|0.93641	0.7969|0.7969	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.93166|0.93166	0.6562|0.6562	6|10	0.13470|0.41790	T|T	0.59|0.15	.|.	16.1818|16.1818	0.81909|0.81909	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3841	.|P98164	.|LRP2_HUMAN	A|C	506|3841	.|ENSP00000263816:Y3841C	ENSP00000438157:T506A|ENSP00000263816:Y3841C	T|Y	-|-	1|2	0|0	LRP2|LRP2	169733408|169733408	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.784000|0.784000	0.44337|0.44337	6.266000|6.266000	0.72540|0.72540	2.225000|2.225000	0.72522|0.72522	0.459000|0.459000	0.35465|0.35465	ACT|TAC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		3	30	0	0	0	1	0	3	30				
PDGFRB	5159	broad.mit.edu	37	5	149498363	149498363	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr5:149498363A>T	ENST00000261799.4	-	21	3320	c.2851T>A	c.(2851-2853)Ttc>Atc	p.F951I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	951	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	AGCTGGGAGAAGGGGGGCCGA	0.577			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				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"""		0				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						c.(2851-2853)Ttc>Atc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						96.0	99.0	98.0					5																	149498363		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.chr5:149498363A>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.2851T>A	5.37:g.149498363A>T	ENSP00000261799:p.Phe951Ile						p.F951I	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	3320	-		all_hematologic(541;0.224)	951			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2851T>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	A	34	5.382645	0.95967	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.88046	-2.33	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000047	D	0.92724	0.7687	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93589	0.6919	10	0.87932	D	0	.	15.2522	0.73556	1.0:0.0:0.0:0.0	.	951;951	A8KAM8;P09619	.;PGFRB_HUMAN	I	951;621	ENSP00000261799:F951I	ENSP00000261799:F951I	F	-	1	0	PDGFRB	149478556	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.079000	0.94032	2.007000	0.58848	0.459000	0.35465	TTC		0.577	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		26	96	0	0	0	1	0	26	96				
EPDR1	54749	broad.mit.edu	37	7	37989841	37989841	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:37989841A>G	ENST00000199448.4	+	3	897	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	EPDR1_ENST00000559325.1_Missense_Mutation_p.Y293C|EPDR1_ENST00000425345.1_Missense_Mutation_p.Y112C|EPDR1_ENST00000476620.1_Missense_Mutation_p.Y71C|EPDR1_ENST00000423717.1_3'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	173					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.Y293C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAGGATTGCTATCCTGTCCAG	0.383																																						ENST00000199448.4																			1	Substitution - Missense(1)	p.Y293C(1)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(517-519)tAt>tGt		ependymin related 1							63.0	64.0	64.0					7																	37989841		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989841A>G	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.518A>G	7.37:g.37989841A>G	ENSP00000199448:p.Tyr173Cys					EPDR1_ENST00000425345.1_Missense_Mutation_p.Y112C|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000476620.1_Missense_Mutation_p.Y71C|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y293C	p.Y173C	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			3	897	+			173					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.518A>G	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167779	0.78339	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	4.8	4.8	0.61643	.	0.134522	0.52532	D	0.000079	T	0.76285	0.3966	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.986;0.991	T	0.79075	-0.1952	9	0.72032	D	0.01	-7.1736	13.7572	0.62943	1.0:0.0:0.0:0.0	.	112;293	C9JYS3;A4D1W8	.;.	C	71;293;112	.	ENSP00000199448:Y293C	Y	+	2	0	EPDR1	37956366	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	9.087000	0.94110	2.157000	0.67596	0.533000	0.62120	TAT		0.383	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		11	13	0	0	0	1	0	11	13				
ANKRD52	283373	broad.mit.edu	37	12	56638535	56638535	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56638535G>A	ENST00000267116.7	-	24	2744	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	875										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGCAGCATCCGGAGCCCAGAG	0.607																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2623-2625)Cgg>Tgg		ankyrin repeat domain 52							55.0	58.0	57.0					12																	56638535		2154	4254	6408	SO:0001583	missense	283373						protein binding	g.chr12:56638535G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2623C>T	12.37:g.56638535G>A	ENSP00000267116:p.Arg875Trp						p.R875W	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			24	2744	-			875					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2623C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467320	0.96257	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.66815	-0.23	4.53	4.53	0.55603	Ankyrin repeat-containing domain (4);	0.066824	0.64402	D	0.000009	T	0.78136	0.4236	M	0.80847	2.515	0.50171	D	0.999858	D	0.67145	0.996	P	0.55303	0.773	T	0.80677	-0.1276	9	.	.	.	.	16.5704	0.84611	0.0:0.0:1.0:0.0	.	875	Q8NB46	ANR52_HUMAN	W	875	ENSP00000267116:R875W	.	R	-	1	2	ANKRD52	54924802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.629000	0.98417	2.527000	0.85204	0.655000	0.94253	CGG		0.607	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		37	104	0	0	0	1	0	37	104				
IRS4	8471	broad.mit.edu	37	X	107976057	107976057	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:107976057T>A	ENST00000372129.2	-	1	3594	c.3518A>T	c.(3517-3519)gAa>gTa	p.E1173V	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1173	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTTACTGCTTCGGCATCAGC	0.637																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(3517-3519)gAa>gTa		insulin receptor substrate 4							59.0	64.0	62.0					X																	107976057		2200	4292	6492	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976057T>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3518A>T	X.37:g.107976057T>A	ENSP00000361202:p.Glu1173Val						p.E1173V	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	3594	-			1173			Ala-rich.			Missense_Mutation	SNP	ENST00000372129.2	37	c.3518A>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454751	0.26161	.	.	ENSG00000133124	ENST00000372129	T	0.37235	1.21	3.4	-0.68	0.11346	.	1.047120	0.07538	N	0.913355	T	0.19446	0.0467	N	0.19112	0.55	0.09310	N	1	B	0.24186	0.099	B	0.19946	0.027	T	0.29458	-1.0011	10	0.66056	D	0.02	0.9651	0.5435	0.00649	0.2118:0.1293:0.2149:0.4441	.	1173	O14654	IRS4_HUMAN	V	1173	ENSP00000361202:E1173V	ENSP00000361202:E1173V	E	-	2	0	IRS4	107862713	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.130000	0.15850	-0.230000	0.09840	-0.360000	0.07572	GAA		0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		106	134	0	0	0	1	0	106	134				
DOCK8	81704	broad.mit.edu	37	9	368135	368135	+	Splice_Site	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:368135G>A	ENST00000453981.1	+	15	1909	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	DOCK8_ENST00000432829.2_Splice_Site_p.P531P|DOCK8_ENST00000382329.1_Silent_p.P11P|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Splice_Site_p.P531P			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	599	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGCGATGCCGGTAAGGAGGG	0.478																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.e15+1		dedicator of cytokinesis 8							134.0	110.0	118.0					9																	368135		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:368135G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1797+1G>A	9.37:g.368135G>A						DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Splice_Site_p.P531_splice|DOCK8_ENST00000382329.1_Silent_p.P11P|DOCK8_ENST00000453981.1_Splice_Site_p.P599_splice	p.P531_splice	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	15	1909	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	599			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37	c.1593_splice	CCDS6440.2																																																																																				0.478	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Silent	5	87	0	0	0	1	0	5	87				
PTPRB	5787	broad.mit.edu	37	12	70963618	70963618	+	Silent	SNP	C	C	A	rs61757802	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:70963618C>A	ENST00000261266.5	-	12	2846	c.2817G>T	c.(2815-2817)acG>acT	p.T939T	PTPRB_ENST00000451516.2_Silent_p.T849T|PTPRB_ENST00000334414.6_Silent_p.T1157T|PTPRB_ENST00000551525.1_Silent_p.T1156T|PTPRB_ENST00000550857.1_Silent_p.T849T|PTPRB_ENST00000538708.1_Silent_p.T939T|PTPRB_ENST00000550358.1_Silent_p.T1069T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	939	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs2304821).		angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCCGACACCGTGTAGGAAT	0.517																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(3469-3471)acG>acT		protein tyrosine phosphatase, receptor type, B							88.0	88.0	88.0					12																	70963618		2044	4182	6226	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963618C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2817G>T	12.37:g.70963618C>A						PTPRB_ENST00000538708.1_Silent_p.T939T|PTPRB_ENST00000550358.1_Silent_p.T1069T|PTPRB_ENST00000551525.1_Silent_p.T1156T|PTPRB_ENST00000550857.1_Silent_p.T849T|PTPRB_ENST00000451516.2_Silent_p.T849T|PTPRB_ENST00000261266.5_Silent_p.T939T	p.T1157T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		14	3515	-	Renal(347;0.236)		939			Fibronectin type-III 13.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.3471G>T	CCDS44944.1																																																																																				0.517	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			19	33	1	0	8.10497e-08	1	8.31549e-08	19	33				
ZMYM1	79830	broad.mit.edu	37	1	35580612	35580612	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:35580612A>G	ENST00000373330.1	+	11	3355	c.3181A>G	c.(3181-3183)Agt>Ggt	p.S1061G	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1061G			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1061						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTCTTCACAGTAATATTCC	0.363																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(3181-3183)Agt>Ggt		zinc finger, MYM-type 1							188.0	178.0	181.0					1																	35580612		1878	4106	5984	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580612A>G	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3181A>G	1.37:g.35580612A>G	ENSP00000362427:p.Ser1061Gly					ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1061G|ZMYM1_ENST00000373329.1_3'UTR	p.S1061G			Q5SVZ6	ZMYM1_HUMAN			11	3355	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1061					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.3181A>G	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	0.572	-0.840657	0.02692	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.22743	1.94;1.94;1.94	4.69	2.39	0.29439	HAT dimerisation (1);Ribonuclease H-like (1);	0.379783	0.22881	N	0.054507	T	0.10551	0.0258	N	0.20986	0.625	0.20196	N	0.99992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25779	-1.0122	9	.	.	.	-7.1713	3.3288	0.07076	0.6493:0.0:0.182:0.1687	.	1042;1061	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	G	1061;986;1061	ENSP00000352920:S1061G;ENSP00000362426:S986G;ENSP00000362427:S1061G	.	S	+	1	0	ZMYM1	35353199	0.998000	0.40836	0.922000	0.36590	0.013000	0.08279	2.561000	0.45905	0.539000	0.28788	0.533000	0.62120	AGT		0.363	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		39	51	0	0	0	1	0	39	51				
AHNAK	79026	broad.mit.edu	37	11	62291941	62291941	+	Silent	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:62291941G>C	ENST00000378024.4	-	5	10222	c.9948C>G	c.(9946-9948)ccC>ccG	p.P3316P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3316					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCAACTTGGGCCCAGAGA	0.443																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9946-9948)ccC>ccG		AHNAK nucleoprotein							82.0	71.0	75.0					11																	62291941		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291941G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9948C>G	11.37:g.62291941G>C						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P3316P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10222	-		Melanoma(852;0.155)	3316					A1A586	Silent	SNP	ENST00000378024.4	37	c.9948C>G	CCDS31584.1																																																																																				0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		26	22	0	0	0	1	0	26	22				
FLG	2312	broad.mit.edu	37	1	152284533	152284533	+	Silent	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152284533T>G	ENST00000368799.1	-	3	2864	c.2829A>C	c.(2827-2829)ggA>ggC	p.G943G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	943	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)			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)			TAACACTGGATCCCTGGCGCC	0.567									Ichthyosis																													ENST00000368799.1																			0				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						c.(2827-2829)ggA>ggC		filaggrin							335.0	303.0	314.0					1																	152284533		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152284533T>G	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.2829A>C	1.37:g.152284533T>G						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G943G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2864	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		943			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2829A>C	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	454	0	0	0	1	0	10	454				
ZNF462	58499	broad.mit.edu	37	9	109689499	109689499	+	Silent	SNP	A	A	C	rs368008742		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:109689499A>C	ENST00000277225.5	+	3	3595	c.3306A>C	c.(3304-3306)ccA>ccC	p.P1102P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P1102P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1102					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|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)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACCCCCCCCACAACCCCCGC	0.527																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3304-3306)ccA>ccC		zinc finger protein 462							27.0	28.0	28.0					9																	109689499		2197	4296	6493	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689499A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3306A>C	9.37:g.109689499A>C						ZNF462_ENST00000457913.1_Silent_p.P1102P	p.P1102P			Q96JM2	ZN462_HUMAN			3	3595	+			1102					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3306A>C	CCDS35096.1																																																																																				0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	38	0	0	0	1	0	4	38				
LEPREL1	55214	broad.mit.edu	37	3	189681862	189681862	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:189681862C>A	ENST00000319332.5	-	14	2116	c.1919G>T	c.(1918-1920)cGc>cTc	p.R640L	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	640	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGATCATGCGCCCACATTT	0.463																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1918-1920)cGc>cTc		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						83.0	81.0	82.0					3																	189681862		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189681862C>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1919G>T	3.37:g.189681862C>A	ENSP00000316881:p.Arg640Leu					LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459L	p.R640L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	14	2116	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		640			Fe2OG dioxygenase.		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1919G>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422604	0.96111	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.63096	-0.02;-0.02	5.91	5.91	0.95273	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84722	0.0740	9	.	.	.	-14.1731	19.2867	0.94077	0.0:1.0:0.0:0.0	.	640	Q8IVL5	P3H2_HUMAN	L	640;459	ENSP00000316881:R640L;ENSP00000408947:R459L	.	R	-	2	0	LEPREL1	191164556	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	CGC		0.463	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		32	46	1	0	1.74807e-11	1	1.8413e-11	32	46				
SPOP	8405	broad.mit.edu	37	17	47696599	47696599	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:47696599T>C	ENST00000393328.2	-	5	714	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SPOP_ENST00000347630.2_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000393331.3_Missense_Mutation_p.M117V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	117	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.M117V(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTACCCATAGCTTTGGTT	0.413										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.M117V(2)	endometrium(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(349-351)Atg>Gtg		speckle-type POZ protein							148.0	136.0	140.0					17																	47696599		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696599T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.349A>G	17.37:g.47696599T>C	ENSP00000377001:p.Met117Val	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000393328.2_Missense_Mutation_p.M117V	p.M117V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	819	-			117			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.349A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696398	0.30142	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.54675	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;0.56	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.036122	0.85682	D	0.000000	T	0.35008	0.0917	N	0.16478	0.41	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.20075	-1.0286	10	0.07482	T	0.82	.	15.4649	0.75390	0.0:0.0:0.0:1.0	.	117	O43791	SPOP_HUMAN	V	117;117;117;117;1;117;70;117;117;117;117;117	ENSP00000377001:M117V;ENSP00000377004:M117V;ENSP00000240327:M117V;ENSP00000425905:M117V;ENSP00000420908:M117V;ENSP00000426986:M117V;ENSP00000420960:M117V;ENSP00000426262:M117V;ENSP00000424119:M117V;ENSP00000426537:M117V	ENSP00000240327:M117V	M	-	1	0	SPOP	45051598	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.787000	0.85759	2.317000	0.78254	0.460000	0.39030	ATG		0.413	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		26	41	0	0	0	1	0	26	41				
LZTFL1	54585	broad.mit.edu	37	3	45877083	45877083	+	Splice_Site	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:45877083G>A	ENST00000296135.6	-	3	496	c.322C>T	c.(322-324)Cga>Tga	p.R108*	LZTFL1_ENST00000536047.1_Splice_Site_p.R91*|LZTFL1_ENST00000539217.1_Splice_Site_p.R104*|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	108				R -> Q (in Ref. 6; AAH25988). {ECO:0000305}.	establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTATTACCGGTTTTCAAGT	0.398																																						ENST00000296135.6																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.e3+1		leucine zipper transcription factor-like 1							93.0	91.0	92.0					3																	45877083		2203	4300	6503	SO:0001630	splice_region_variant	54585							g.chr3:45877083G>A	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.323+1C>T	3.37:g.45877083G>A						LZTFL1_ENST00000539217.1_Splice_Site_p.R104_splice|LZTFL1_ENST00000536047.1_Splice_Site_p.R91_splice|LZTFL1_ENST00000490463.1_5'UTR	p.R108_splice	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	3	496	-			108	R -> Q (in Ref. 4; AAH25988).				B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Splice_Site	SNP	ENST00000296135.6	37	c.323_splice	CCDS2731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.949836|8.949836	0.99014|0.99014	.|.	.|.	ENSG00000163818|ENSG00000163818	ENST00000440576|ENST00000296135;ENST00000536047;ENST00000539217	.|.	.|.	.|.	5.74|5.74	3.47|3.47	0.39725|0.39725	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.33265|.	0.0857|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34625|.	-0.9821|.	3|.	.|0.02654	.|T	.|1	-14.9754|-14.9754	13.674|13.674	0.62443|0.62443	0.0:0.0:0.3321:0.6679|0.0:0.0:0.3321:0.6679	.|.	.|.	.|.	.|.	L|X	65|108;91;104	.|.	.|ENSP00000296135:R108X	P|R	-|-	2|1	0|2	LZTFL1|LZTFL1	45852087|45852087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	2.350000|2.350000	0.44063|0.44063	1.013000|1.013000	0.39391|0.39391	-0.397000|-0.397000	0.06425|0.06425	CCG|CGA		0.398	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347	Nonsense_Mutation	24	36	0	0	0	1	0	24	36				
SEC24B	10427	broad.mit.edu	37	4	110384637	110384637	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr4:110384637G>A	ENST00000265175.5	+	2	769	c.714G>A	c.(712-714)tcG>tcA	p.S238S	SEC24B_ENST00000504968.2_Silent_p.S269S|SEC24B_ENST00000399100.2_Silent_p.S238S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	238					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCCATCCATCGCCACTTCCAC	0.458																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(712-714)tcG>tcA		SEC24 family member B							133.0	140.0	138.0					4																	110384637		2189	4289	6478	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384637G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.714G>A	4.37:g.110384637G>A						SEC24B_ENST00000399100.2_Silent_p.S238S|SEC24B_ENST00000504968.2_Silent_p.S269S	p.S238S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	769	+		Hepatocellular(203;0.217)	238					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.714G>A	CCDS47124.1																																																																																				0.458	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			4	123	0	0	0	1	0	4	123				
ACE2	59272	broad.mit.edu	37	X	15609873	15609873	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:15609873C>A	ENST00000252519.3	-	4	648	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ACE2_ENST00000427411.1_Missense_Mutation_p.E182D			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	182					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AGACCACATACTCTTCATATA	0.463																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(544-546)gaG>gaT		angiotensin I converting enzyme 2	Moexipril(DB00691)						237.0	221.0	227.0					X																	15609873		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15609873C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.546G>T	X.37:g.15609873C>A	ENSP00000252519:p.Glu182Asp					ACE2_ENST00000252519.3_Missense_Mutation_p.E182D	p.E182D	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			5	762	-	Hepatocellular(33;0.183)		182					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.546G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292743	0.40594	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.34667	1.35;1.35	6.14	0.627	0.17675	.	0.341969	0.35262	N	0.003337	T	0.27663	0.0680	M	0.69463	2.115	0.27876	N	0.939875	B	0.02656	0.0	B	0.04013	0.001	T	0.13522	-1.0506	10	0.30854	T	0.27	-15.5157	2.2316	0.03998	0.123:0.364:0.1186:0.3944	.	182	Q9BYF1	ACE2_HUMAN	D	182	ENSP00000252519:E182D;ENSP00000389326:E182D	ENSP00000252519:E182D	E	-	3	2	ACE2	15519794	0.517000	0.26226	0.999000	0.59377	0.990000	0.78478	-0.426000	0.07008	0.270000	0.21984	-0.387000	0.06579	GAG		0.463	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			184	221	1	0	5.92754e-76	1	6.50383e-76	184	221				
NCKAP5	344148	broad.mit.edu	37	2	133541232	133541232	+	Missense_Mutation	SNP	C	C	G	rs199817836	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:133541232C>G	ENST00000409261.1	-	14	3525	c.3152G>C	c.(3151-3153)cGc>cCc	p.R1051P	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1051P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1051										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGTGTTTGGCGAGGAGAGGT	0.557																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3151-3153)cGc>cCc		NCK-associated protein 5							90.0	92.0	91.0					2																	133541232		1892	4129	6021	SO:0001583	missense	344148						protein binding	g.chr2:133541232C>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3152G>C	2.37:g.133541232C>G	ENSP00000387128:p.Arg1051Pro					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1051P|NCKAP5_ENST00000405974.3_Intron	p.R1051P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3525	-			1051					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3152G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385591	0.25031	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10005	2.92;2.92	5.41	0.218	0.15270	.	0.602490	0.13525	N	0.381410	T	0.03434	0.0099	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43972	-0.9358	10	0.17369	T	0.5	.	3.1231	0.06398	0.1587:0.0732:0.1898:0.5783	.	1051	O14513	NCKP5_HUMAN	P	1051	ENSP00000387128:R1051P;ENSP00000380603:R1051P	ENSP00000380603:R1051P	R	-	2	0	NCKAP5	133257702	1.000000	0.71417	0.749000	0.31150	0.747000	0.42532	1.150000	0.31639	-0.091000	0.12440	-1.084000	0.02203	CGC		0.557	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		33	47	0	0	0	1	0	33	47				
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824710	+	lincRNA	DEL	T	T	-	rs57565986	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:106824710delT	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		tttttatatcttttttttttt	0.448													|||unknown(HR)	3314	0.661741	0.6672	0.6138	5008	,	,		17759	0.6111		0.67	False		,,,				2504	0.7321					ENST00000484698.1																			0																																																			0							g.chr3:106824710delT			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106824710delT														0	295	-									RNA	DEL	ENST00000484698.1	37																																																																																						0.448	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			2	4						2	4	---	---	---	---
RP11-93K22.13	0	broad.mit.edu	37	3	129814807	129814807	+	lincRNA	DEL	G	G	-	rs71158106	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:129814807delG	ENST00000514010.1	-	0	0				ALG1L2_ENST00000507643.1_RNA|AC083906.2_ENST00000578837.1_RNA																							CACTCCCCTCGGGGGGTGTTG	0.607														857	0.171126	0.2088	0.1628	5008	,	,		17216	0.003		0.2932	False		,,,				2504	0.1738					ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129814807delG																													3.37:g.129814807delG										C9J202	AG1L2_HUMAN			0	456	+									RNA	DEL	ENST00000514010.1	37																																																																																						0.607	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			3	6						3	6	---	---	---	---
IER3	8870	broad.mit.edu	37	6	30711931	30711931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:30711931delT	ENST00000259874.5	-	2	288	c.253delA	c.(253-255)aggfs	p.R85fs	IER3_ENST00000376377.2_Frame_Shift_Del_p.K122fs|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000376389.3_5'Flank|FLOT1_ENST00000456573.2_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	85					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						AAGAGAAGCCTTTTGGCTGGG	0.627																																						ENST00000376377.2																			0				NS(1)	1						c.(364-366)agfs		immediate early response 3							63.0	68.0	66.0					6																	30711931		2203	4299	6502	SO:0001589	frameshift_variant	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30711931delT	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.253delA	6.37:g.30711931delT	ENSP00000259874:p.Arg85fs					IER3_ENST00000259874.5_Frame_Shift_Del_p.R85fs	p.K122fs			P46695	IEX1_HUMAN			1	394	-			0					Q5SU30|Q92691|Q93044	Frame_Shift_Del	DEL	ENST00000259874.5	37	c.365delA	CCDS4689.1																																																																																				0.627	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			95	113						95	113	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	10						5	10	---	---	---	---
UNC93B1	81622	broad.mit.edu	37	11	67763096	67763096	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:67763096delT	ENST00000227471.2	-	10	1425	c.1346delA	c.(1345-1347)aagfs	p.K449fs	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	450					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GAGTCCAGTCTTGTTCAGGGC	0.602																																						ENST00000227471.2																			0											c.(1345-1347)agfs		unc-93 homolog B1 (C. elegans)							9.0	8.0	8.0					11																	67763096		1701	3612	5313	SO:0001589	frameshift_variant	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67763096delT	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1346delA	11.37:g.67763096delT	ENSP00000227471:p.Lys449fs					UNC93B1_ENST00000530331.1_5'UTR	p.K449fs	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN			10	1425	-			450					O95764|Q569H6|Q710D4	Frame_Shift_Del	DEL	ENST00000227471.2	37	c.1346delA																																																																																					0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		2	4						2	4	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56078974	56078976	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56078974_56078976delCTC	ENST00000555728.1	-	26	3440_3442	c.3412_3414delGAG	c.(3412-3414)gagdel	p.E1138del	ITGA7_ENST00000347027.6_In_Frame_Del_p.E1088del|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000553804.1_In_Frame_Del_p.E1098del|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000257879.6_In_Frame_Del_p.E1094del|ITGA7_ENST00000452168.2_In_Frame_Del_p.E1001del			Q13683	ITA7_HUMAN	integrin, alpha 7	1138					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCCCGTCTTCTCCTCCTTGAAC	0.645																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3280-3282)del		integrin, alpha 7																																				SO:0001651	inframe_deletion	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078974_56078976delCTC		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3412_3414delGAG	12.37:g.56078977_56078979delCTC	ENSP00000452387:p.Glu1138del					ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_In_Frame_Del_p.E1098del|ITGA7_ENST00000452168.2_In_Frame_Del_p.E1001del|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_In_Frame_Del_p.E1088del|ITGA7_ENST00000555728.1_In_Frame_Del_p.E1138del	p.E1094del	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN			25	3495_3497	-			1138					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	In_Frame_Del	DEL	ENST00000555728.1	37	c.3280_3282delGAG																																																																																					0.645	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		33	43						33	43	---	---	---	---
