#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
RRBP1	6238	broad.mit.edu	37	20	17622555	17622555	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:17622555T>A	ENST00000377813.1	-	5	2374	c.2071A>T	c.(2071-2073)Aag>Tag	p.K691*	RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	691					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.K258*(1)|p.K691*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGTCACCCTTCTGAGTGGCC	0.557																																						ENST00000377813.1																			2	Substitution - Nonsense(2)	p.K258*(1)|p.K691*(1)	prostate(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2071-2073)Aag>Tag		ribosome binding protein 1							120.0	115.0	117.0					20																	17622555		2203	4300	6503	SO:0001587	stop_gained	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17622555T>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2071A>T	20.37:g.17622555T>A	ENSP00000367044:p.Lys691*					RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*	p.K691*			Q9P2E9	RRBP1_HUMAN			5	2374	-			691					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	ENST00000377813.1	37	c.2071A>T		.	.	.	.	.	.	.	.	.	.	T	41	8.846750	0.98976	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	6.08	6.08	0.98989	.	0.000000	0.39407	N	0.001373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-43.542	15.825	0.78698	0.0:0.0:0.0:1.0	.	.	.	.	X	258;691;258;691;32	.	ENSP00000246043:K691X	K	-	1	0	RRBP1	17570555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.333000	0.79357	0.533000	0.62120	AAG		0.557	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	192	0	0	0	1	0	10	192				
DSCAM	1826	broad.mit.edu	37	21	41465774	41465774	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:41465774C>T	ENST00000400454.1	-	21	4201	c.3724G>A	c.(3724-3726)Gac>Aac	p.D1242N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1242	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D1242N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAAACGAGTCGGGAGAGGCC	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.D1242N(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3724-3726)Gac>Aac		Down syndrome cell adhesion molecule							73.0	72.0	72.0					21																	41465774		1948	4137	6085	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41465774C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3724G>A	21.37:g.41465774C>T	ENSP00000383303:p.Asp1242Asn						p.D1242N	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			21	4201	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1242			Fibronectin type-III 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3724G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026184	0.54683	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56275	0.47;0.47	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	N	0.20766	0.605	0.51767	D	0.999936	D	0.89917	1.0	D	0.72075	0.976	T	0.53528	-0.8426	10	0.18710	T	0.47	.	18.3338	0.90280	0.0:1.0:0.0:0.0	.	1242	O60469	DSCAM_HUMAN	N	1242;994	ENSP00000383303:D1242N;ENSP00000385342:D994N	ENSP00000383303:D1242N	D	-	1	0	DSCAM	40387644	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.726000	0.84824	2.312000	0.78011	0.467000	0.42956	GAC		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		22	33	0	0	0	1	0	22	33				
TAL2	6887	broad.mit.edu	37	9	108424812	108424812	+	Missense_Mutation	SNP	G	G	C	rs183751696		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:108424812G>C	ENST00000334077.3	+	1	75	c.35G>C	c.(34-36)cGg>cCg	p.R12P		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	12	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)	p.R12P(1)									ACCAGGGAGCGGTGGAGGCAG	0.502			T	TRB@	T-ALL																																	ENST00000334077.3				Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		1	Substitution - Missense(1)	p.R12P(1)	prostate(1)								c.(34-36)cGg>cCg		T-cell acute lymphocytic leukemia 2							70.0	67.0	68.0					9																	108424812		2203	4300	6503	SO:0001583	missense	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108424812G>C		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.35G>C	9.37:g.108424812G>C	ENSP00000334547:p.Arg12Pro						p.R12P	NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN			1	75	+			12					A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	37	c.35G>C	CCDS6767.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236416	0.95240	.	.	ENSG00000186051	ENST00000334077	D	0.99089	-5.41	5.67	5.67	0.87782	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97772	1.0227	10	0.87932	D	0	-18.6693	19.1191	0.93355	0.0:0.0:1.0:0.0	.	12	Q16559	TAL2_HUMAN	P	12	ENSP00000334547:R12P	ENSP00000334547:R12P	R	+	2	0	TAL2	107464633	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.695000	0.98691	2.837000	0.97791	0.655000	0.94253	CGG		0.502	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		13	63	0	0	0	1	0	13	63				
FCHO2	115548	broad.mit.edu	37	5	72370579	72370579	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:72370579G>T	ENST00000430046.2	+	20	1706	c.1590G>T	c.(1588-1590)cgG>cgT	p.R530R	FCHO2_ENST00000512348.1_Silent_p.R497R|FCHO2_ENST00000341845.6_Silent_p.R530R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.R530R(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTGTGTCACGGGGTCCCAGCC	0.408																																						ENST00000430046.2																			2	Substitution - coding silent(2)	p.R530R(2)	prostate(2)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(1588-1590)cgG>cgT		FCH domain only 2							84.0	81.0	82.0					5																	72370579		1876	4106	5982	SO:0001819	synonymous_variant	115548							g.chr5:72370579G>T	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1590G>T	5.37:g.72370579G>T						FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R	p.R530R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	20	1706	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	530					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	c.1590G>T	CCDS47230.1																																																																																				0.408	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		3	37	1	0	1	1	1	3	37				
SIK3	23387	broad.mit.edu	37	11	116729309	116729309	+	Missense_Mutation	SNP	T	T	C	rs141671439		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116729309T>C	ENST00000292055.4	-	20	2589	c.2554A>G	c.(2554-2556)Aca>Gca	p.T852A	SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.T910A|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	852	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T958A(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCACTCCTGTTGAAGGGCTG	0.582													T|||	1	0.000199681	0.0	0.0	5008	,	,		18667	0.0		0.001	False		,,,				2504	0.0					ENST00000375300.1																			1	Substitution - Missense(1)	p.T958A(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2728-2730)Aca>Gca		SIK family kinase 3							80.0	87.0	85.0					11																	116729309		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729309T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2554A>G	11.37:g.116729309T>C	ENSP00000292055:p.Thr852Ala					SIK3_ENST00000446921.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron	p.T910A			Q9Y2K2	SIK3_HUMAN			20	2733	-			852			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2728A>G	CCDS8379.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	T|T	12.41|12.41	1.928353|1.928353	0.34002|0.34002	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177|ENST00000375300;ENST00000292055	.|T;T	.|0.70986	.|-0.5;-0.53	5.58|5.58	-5.37|-5.37	0.02681|0.02681	.|.	.|0.684009	.|0.12074	.|U	.|0.501979	T|T	0.40909|0.40909	0.1136|0.1136	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999992|0.999992	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.01549|0.01549	-1.1327|-1.1327	5|10	.|0.33141	.|T	.|0.24	.|.	5.6675|5.6675	0.17702|0.17702	0.1045:0.4964:0.1062:0.2929|0.1045:0.4964:0.1062:0.2929	.|.	.|852;852	.|Q9Y2K2-3;Q9Y2K2	.|.;SIK3_HUMAN	S|A	951|910;852	.|ENSP00000364449:T910A;ENSP00000292055:T852A	.|ENSP00000292055:T852A	N|T	-|-	2|1	0|0	SIK3|SIK3	116234519|116234519	0.010000|0.010000	0.17322|0.17322	0.962000|0.962000	0.40283|0.40283	0.996000|0.996000	0.88848|0.88848	-0.563000|-0.563000	0.05943|0.05943	-0.812000|-0.812000	0.04363|0.04363	-0.250000|-0.250000	0.11733|0.11733	AAC|ACA		0.582	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		45	133	0	0	0	1	0	45	133				
HIPK1	204851	broad.mit.edu	37	1	114483187	114483187	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:114483187A>G	ENST00000369558.1	+	2	414	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	61					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q61R(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCTCACCAGGTAGCAAAT	0.537																																						ENST00000369558.1																			3	Substitution - Missense(3)	p.Q61R(3)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(181-183)cAg>cGg		homeodomain interacting protein kinase 1							205.0	207.0	206.0					1																	114483187		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483187A>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.182A>G	1.37:g.114483187A>G	ENSP00000358571:p.Gln61Arg					HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R	p.Q61R			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	414	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	61					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.182A>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829284	0.50845	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.77;0.74;0.74;0.77;0.77;0.81;0.8	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000013	T	0.41305	0.1153	N	0.22421	0.69	0.80722	D	1	P;P	0.48294	0.851;0.908	P;D	0.64144	0.775;0.922	T	0.32903	-0.9889	10	0.27785	T	0.31	.	15.1417	0.72615	1.0:0.0:0.0:0.0	.	61;61	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	R	132;61;61;61;61;61;61;61;61	ENSP00000407442:Q132R;ENSP00000358572:Q61R;ENSP00000409673:Q61R;ENSP00000358567:Q61R;ENSP00000358568:Q61R;ENSP00000358571:Q61R;ENSP00000358574:Q61R;ENSP00000422322:Q61R;ENSP00000426695:Q61R	ENSP00000358567:Q61R	Q	+	2	0	HIPK1	114284710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.783000	0.68982	1.969000	0.57287	0.528000	0.53228	CAG		0.537	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		15	227	0	0	0	1	0	15	227				
GPR123	84435	broad.mit.edu	37	10	134942117	134942117	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:134942117C>T	ENST00000392607.3	+	7	1221	c.785C>T	c.(784-786)aCg>aTg	p.T262M	GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000607359.1_Missense_Mutation_p.T981M	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	262					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T262M(1)|p.T981M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCGCCTTCACGCTGTTCCTG	0.692																																						ENST00000607359.1																			2	Substitution - Missense(2)	p.T262M(1)|p.T981M(1)	prostate(2)	endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2941-2943)aCg>aTg		G protein-coupled receptor 123							16.0	15.0	15.0					10																	134942117		2191	4288	6479	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942117C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.785C>T	10.37:g.134942117C>T	ENSP00000376384:p.Thr262Met					GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000392607.3_Missense_Mutation_p.T262M	p.T981M			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2942	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	262					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2942C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.296494	0.81025	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.36340	1.26	4.85	4.85	0.62838	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000009	T	0.58736	0.2143	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.71674	0.995;0.998	D;D	0.66497	0.923;0.944	T	0.62397	-0.6863	10	0.56958	D	0.05	-27.2516	15.8223	0.78667	0.0:1.0:0.0:0.0	.	262;981	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	M	981;262;166	ENSP00000376384:T262M	ENSP00000357566:T981M	T	+	2	0	GPR123	134792107	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.591000	0.67536	2.419000	0.82065	0.491000	0.48974	ACG		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			5	13	0	0	0	1	0	5	13				
TTN	7273	broad.mit.edu	37	2	179580256	179580256	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:179580256C>T	ENST00000591111.1	-	87	25158	c.24934G>A	c.(24934-24936)Ggc>Agc	p.G8312S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8629S|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12490	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7385S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACTGCCTGCTGCATTG	0.478																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.G7385S(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25885-25887)Ggc>Agc		titin							82.0	85.0	84.0					2																	179580256		2094	4228	6322	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580256C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24934G>A	2.37:g.179580256C>T	ENSP00000465570:p.Gly8312Ser					TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	p.G8629S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	26109	-			8312			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25885G>A		.	.	.	.	.	.	.	.	.	.	C	19.14	3.769803	0.69992	.	.	ENSG00000155657	ENST00000342992	T	0.74315	-0.83	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90848	0.7125	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93220	0.6608	9	0.87932	D	0	.	19.3896	0.94574	0.0:1.0:0.0:0.0	.	8312	Q8WZ42	TITIN_HUMAN	S	7385	ENSP00000343764:G7385S	ENSP00000343764:G7385S	G	-	1	0	TTN	179288501	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	7.776000	0.85560	2.637000	0.89404	0.655000	0.94253	GGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	85	0	0	0	1	0	12	85				
OR2V2	285659	broad.mit.edu	37	5	180582179	180582179	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:180582179G>A	ENST00000328275.1	+	1	237	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V79V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACCAATGTGCCAAAGATGG	0.517																																						ENST00000328275.1																			1	Substitution - coding silent(1)	p.V79V(1)	prostate(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(235-237)gtG>gtA		olfactory receptor, family 2, subfamily V, member 2							166.0	158.0	161.0					5																	180582179		2203	4300	6503	SO:0001819	synonymous_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582179G>A	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.237G>A	5.37:g.180582179G>A							p.V79V	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	237	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	79					Q6IFL6|Q8NGV1	Silent	SNP	ENST00000328275.1	37	c.237G>A	CCDS4461.1																																																																																				0.517	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			14	245	0	0	0	1	0	14	245				
OR51F1	256892	broad.mit.edu	37	11	4791052	4791052	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:4791052A>T	ENST00000380383.1	-	1	116	c.117T>A	c.(115-117)ccT>ccA	p.P39P	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P32P(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACAACAGAAAGGAATGGAGA	0.453																																						ENST00000380383.1																			1	Substitution - coding silent(1)	p.P32P(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(115-117)ccT>ccA		olfactory receptor, family 51, subfamily F, member 1							55.0	55.0	55.0					11																	4791052		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4791052A>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.117T>A	11.37:g.4791052A>T						OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.P39P			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	116	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	32						Silent	SNP	ENST00000380383.1	37	c.117T>A																																																																																					0.453	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		11	41	0	0	0	1	0	11	41				
AHNAK2	113146	broad.mit.edu	37	14	105413230	105413230	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr14:105413230T>G	ENST00000333244.5	-	7	8677	c.8558A>C	c.(8557-8559)cAa>cCa	p.Q2853P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2853						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)		p.Q2853P(1)		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)			AAGATCCCCTTGCATGGAGGG	0.622																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.Q2853P(1)	prostate(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8557-8559)cAa>cCa		AHNAK nucleoprotein 2							134.0	153.0	147.0					14																	105413230		1972	4153	6125	SO:0001583	missense	113146					nucleus		g.chr14:105413230T>G	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.8558A>C	14.37:g.105413230T>G	ENSP00000353114:p.Gln2853Pro					AHNAK2_ENST00000557457.1_Intron	p.Q2853P	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	8677	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2853					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8558A>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	5.892	0.348715	0.11126	.	.	ENSG00000185567	ENST00000333244	T	0.00745	5.75	3.07	-1.02	0.10135	.	.	.	.	.	T	0.00784	0.0026	L	0.50919	1.6	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47686	-0.9098	9	0.36615	T	0.2	.	0.9639	0.01401	0.1567:0.2955:0.161:0.3868	.	2853	Q8IVF2	AHNK2_HUMAN	P	2853	ENSP00000353114:Q2853P	ENSP00000353114:Q2853P	Q	-	2	0	AHNAK2	104484275	.	.	0.000000	0.03702	0.010000	0.07245	.	.	-0.432000	0.07297	-0.983000	0.02560	CAA		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	230	0	0	0	1	0	19	230				
DSEL	92126	broad.mit.edu	37	18	65179121	65179121	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:65179121A>G	ENST00000310045.7	-	2	4228	c.2755T>C	c.(2755-2757)Tca>Cca	p.S919P	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	909					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S919P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGGATATCTGACACCTTCCAT	0.423																																						ENST00000310045.7																			1	Substitution - Missense(1)	p.S919P(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2755-2757)Tca>Cca		dermatan sulfate epimerase-like							78.0	78.0	78.0					18																	65179121		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179121A>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2755T>C	18.37:g.65179121A>G	ENSP00000310565:p.Ser919Pro					CTD-2541J13.2_ENST00000583493.1_RNA	p.S919P	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4228	-		Esophageal squamous(42;0.129)	909					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2755T>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323675	0.41096	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19532	2.14	5.13	1.26	0.21427	Sulfotransferase domain (1);	0.901578	0.09527	N	0.790135	T	0.21801	0.0525	L	0.54323	1.7	0.09310	N	1	P	0.47484	0.896	P	0.45377	0.478	T	0.17167	-1.0378	10	0.56958	D	0.05	-2.7642	3.4752	0.07582	0.6492:0.1414:0.0741:0.1354	.	909	Q8IZU8	DSEL_HUMAN	P	919;909	ENSP00000310565:S919P	ENSP00000310565:S919P	S	-	1	0	DSEL	63330101	0.176000	0.23096	0.004000	0.12327	0.972000	0.66771	0.849000	0.27723	0.233000	0.21120	0.460000	0.39030	TCA		0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		5	138	0	0	0	1	0	5	138				
OR2B11	127623	broad.mit.edu	37	1	247614412	247614412	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:247614412G>T	ENST00000318749.6	-	1	896	c.873C>A	c.(871-873)ccC>ccA	p.P291P		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P291P(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTAGGTGAAGGGATTGAGAG	0.488																																						ENST00000318749.6																			2	Substitution - coding silent(2)	p.P291P(2)	prostate(1)|lung(1)	endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(871-873)ccC>ccA		olfactory receptor, family 2, subfamily B, member 11							180.0	193.0	189.0					1																	247614412		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614412G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.873C>A	1.37:g.247614412G>T							p.P291P	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	896	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	291					B2RP03	Silent	SNP	ENST00000318749.6	37	c.873C>A	CCDS31090.1																																																																																				0.488	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		6	423	1	0	0.0215528	1	0.0223925	6	423				
EPB41L3	23136	broad.mit.edu	37	18	5397388	5397388	+	Missense_Mutation	SNP	G	G	A	rs143141379		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:5397388G>A	ENST00000341928.2	-	18	2850	c.2510C>T	c.(2509-2511)aCg>aTg	p.T837M	EPB41L3_ENST00000542146.1_Missense_Mutation_p.T142M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T134M|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T837M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T615M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T668M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T615M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	837	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T837M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGGGTTCCGTCTCTATTCC	0.542																																						ENST00000341928.2																			1	Substitution - Missense(1)	p.T837M(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2509-2511)aCg>aTg		erythrocyte membrane protein band 4.1-like 3		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	63.0	66.0	65.0		2510	1.7	0.0	18	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPB41L3	NM_012307.2	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	837/1088	5397388	2,13004	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397388G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2510C>T	18.37:g.5397388G>A	ENSP00000343158:p.Thr837Met					EPB41L3_ENST00000400111.3_Missense_Mutation_p.T615M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T668M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T837M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T142M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T134M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T615M|EPB41L3_ENST00000542652.2_5'UTR	p.T837M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	2850	-			837			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2510C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	6.150	0.395853	0.11638	2.27E-4	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82619	-1.46;-1.63;-0.09;-0.1;-1.46;-1.63	5.83	1.67	0.24075	.	1.351790	0.04262	N	0.340448	T	0.81254	0.4784	L	0.34521	1.04	0.09310	N	1	P;D;D;P;B;P;P;P	0.58970	0.811;0.984;0.96;0.809;0.008;0.755;0.493;0.932	B;P;P;B;B;B;B;B	0.54100	0.273;0.592;0.742;0.336;0.001;0.265;0.097;0.315	T	0.67852	-0.5563	10	0.48119	T	0.1	.	3.4409	0.07463	0.2834:0.0:0.4541:0.2625	.	668;134;142;229;506;615;837;72	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	837;506;668;506;134;142;837;615	ENSP00000343158:T837M;ENSP00000441174:T668M;ENSP00000392195:T134M;ENSP00000442233:T142M;ENSP00000341138:T837M;ENSP00000382981:T615M	ENSP00000343158:T837M	T	-	2	0	EPB41L3	5387388	0.001000	0.12720	0.014000	0.15608	0.013000	0.08279	0.600000	0.24104	0.792000	0.33850	0.591000	0.81541	ACG		0.542	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		5	62	0	0	0	1	0	5	62				
PTPN6	5777	broad.mit.edu	37	12	7061281	7061281	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:7061281C>T	ENST00000318974.9	+	3	511	c.267C>T	c.(265-267)cgC>cgT	p.R89R	PTPN6_ENST00000447931.2_Silent_p.R50R|PTPN6_ENST00000456013.1_Silent_p.R89R|PTPN6_ENST00000399448.1_Silent_p.R91R	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	89	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R89R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGCAGGACCGCGACGGCACCA	0.587																																						ENST00000456013.1																			2	Substitution - coding silent(2)	p.R89R(2)	prostate(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(265-267)cgC>cgT		protein tyrosine phosphatase, non-receptor type 6							105.0	124.0	117.0					12																	7061281		2199	4296	6495	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7061281C>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.267C>T	12.37:g.7061281C>T						PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000447931.2_Silent_p.R50R|PTPN6_ENST00000318974.9_Silent_p.R89R	p.R89R	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			3	509	+			89			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.267C>T	CCDS44820.1																																																																																				0.587	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		12	132	0	0	0	1	0	12	132				
AADAC	13	broad.mit.edu	37	3	151545615	151545615	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:151545615C>T	ENST00000232892.7	+	5	981	c.855C>T	c.(853-855)tcC>tcT	p.S285S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	285					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S285S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTGGAGTTCCCTGCTCCCTG	0.383																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			1	Substitution - coding silent(1)	p.S285S(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(853-855)tcC>tcT		arylacetamide deacetylase							55.0	58.0	57.0					3																	151545615		2203	4299	6502	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545615C>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.855C>T	3.37:g.151545615C>T						RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.S285S	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	981	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	285					A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.855C>T	CCDS33877.1																																																																																				0.383	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		9	200	0	0	0	1	0	9	200				
TPST1	8460	broad.mit.edu	37	7	65751577	65751577	+	Missense_Mutation	SNP	G	G	A	rs142506783		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:65751577G>A	ENST00000304842.5	+	3	1350	c.925G>A	c.(925-927)Gat>Aat	p.D309N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	309					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.D309N(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATACCGCCAGATGTTTTACA	0.428																																						ENST00000304842.5																			1	Substitution - Missense(1)	p.D309N(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(925-927)Gat>Aat		tyrosylprotein sulfotransferase 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	145.0	127.0	133.0		925	4.7	1.0	7	dbSNP_134	133	0,8600		0,0,4300	no	missense	TPST1	NM_003596.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	309/371	65751577	1,13005	2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751577G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.925G>A	7.37:g.65751577G>A	ENSP00000302413:p.Asp309Asn					TPST1_ENST00000480281.1_3'UTR	p.D309N	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			3	1350	+			309					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.925G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070780	0.76301	2.27E-4	0.0	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.44881	0.91	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.82630	2.6	0.80722	D	1	P;P	0.52061	0.95;0.916	P;P	0.53450	0.726;0.536	T	0.66376	-0.5939	10	0.66056	D	0.02	-19.0377	13.3784	0.60752	0.0761:0.0:0.9238:0.0	.	309;309	F5H7U7;O60507	.;TPST1_HUMAN	N	309	ENSP00000302413:D309N	ENSP00000302413:D309N	D	+	1	0	TPST1	65389012	1.000000	0.71417	0.952000	0.39060	0.926000	0.56050	6.931000	0.75863	1.348000	0.45733	0.467000	0.42956	GAT		0.428	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		9	106	0	0	0	1	0	9	106				
PRKACG	5568	broad.mit.edu	37	9	71628979	71628979	+	Silent	SNP	G	G	A	rs541637720	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:71628979G>A	ENST00000377276.2	-	1	60	c.30C>T	c.(28-30)acC>acT	p.T10T		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	10					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.T10T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTCCTGCTCGGTGTCCTTCT	0.692																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			1	Substitution - coding silent(1)	p.T10T(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(28-30)acC>acT		protein kinase, cAMP-dependent, catalytic, gamma							37.0	39.0	38.0					9																	71628979		2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628979G>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.30C>T	9.37:g.71628979G>A							p.T10T	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	60	-			10					O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.30C>T	CCDS6625.1																																																																																				0.692	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			5	44	0	0	0	1	0	5	44				
UBQLN2	29978	broad.mit.edu	37	X	56591153	56591153	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:56591153G>A	ENST00000338222.5	+	1	1128	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	283			A -> T (in ALS15). {ECO:0000269|PubMed:22892309}.		cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A283T(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGAATGCCGCACAAGAGCA	0.517																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			2	Substitution - Missense(2)	p.A283T(2)	prostate(2)	breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(847-849)Gca>Aca		ubiquilin 2							54.0	52.0	53.0					X																	56591153		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591153G>A	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.847G>A	X.37:g.56591153G>A	ENSP00000345195:p.Ala283Thr						p.A283T	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	1128	+			283					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.847G>A	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337223	0.60963	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80824	-1.42	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000004	D	0.86087	0.5849	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76071	0.89;0.987	D	0.83667	0.0164	10	0.27785	T	0.31	-7.4834	14.6902	0.69080	0.0:0.0:1.0:0.0	.	283;283	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	T	283	ENSP00000345195:A283T	ENSP00000345195:A283T	A	+	1	0	UBQLN2	56607878	1.000000	0.71417	0.965000	0.40720	0.678000	0.39670	9.197000	0.94985	2.440000	0.82611	0.600000	0.82982	GCA		0.517	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		3	39	0	0	0	1	0	3	39				
NALCN	259232	broad.mit.edu	37	13	102047576	102047576	+	Silent	SNP	C	C	T	rs145910377	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr13:102047576C>T	ENST00000251127.6	-	3	330	c.249G>A	c.(247-249)acG>acA	p.T83T	NALCN_ENST00000376196.3_Silent_p.T83T|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.T83T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	83					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.T83T(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCATCTCTGCCGTGTAGAGAA	0.403																																						ENST00000251127.6																			2	Substitution - coding silent(2)	p.T83T(2)	prostate(1)|skin(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(247-249)acG>acA		sodium leak channel, non-selective		C		3,4403	6.2+/-15.9	0,3,2200	122.0	96.0	105.0		249	-7.1	0.6	13	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	NALCN	NM_052867.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		83/1739	102047576	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102047576C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.249G>A	13.37:g.102047576C>T						NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.T83T|NALCN_ENST00000376200.5_Silent_p.T83T	p.T83T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			3	330	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		83					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.249G>A	CCDS9498.1																																																																																				0.403	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		18	95	0	0	0	1	0	18	95				
GP2	2813	broad.mit.edu	37	16	20335248	20335248	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:20335248C>A	ENST00000381362.4	-	3	501	c.425G>T	c.(424-426)aGt>aTt	p.S142I	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.S142I	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	142					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.S142I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGTTGCCACTCCAATGGGC	0.592																																						ENST00000302555.5																			2	Substitution - Missense(2)	p.S142I(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(424-426)aGt>aTt		glycoprotein 2 (zymogen granule membrane)							69.0	57.0	61.0					16																	20335248		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335248C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.425G>T	16.37:g.20335248C>A	ENSP00000370767:p.Ser142Ile					GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000341642.5_Intron	p.S142I			P55259	GP2_HUMAN			3	574	-			142					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.425G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776046	0.31411	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.95554	-3.74;-3.74	4.84	0.569	0.17340	.	.	.	.	.	D	0.95092	0.8410	M	0.87682	2.9	0.09310	N	1	P;P	0.48016	0.85;0.904	B;P	0.46362	0.424;0.514	D	0.88718	0.3227	9	0.59425	D	0.04	-5.2599	4.3262	0.11041	0.1524:0.3096:0.4471:0.0909	.	142;142	P55259-3;P55259	.;GP2_HUMAN	I	142	ENSP00000304044:S142I;ENSP00000370767:S142I	ENSP00000304044:S142I	S	-	2	0	GP2	20242749	0.012000	0.17670	0.025000	0.17156	0.263000	0.26337	0.118000	0.15605	-0.029000	0.13827	0.650000	0.86243	AGT		0.592	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		3	83	1	0	1	1	1	3	83				
ICAM1	3383	broad.mit.edu	37	19	10394818	10394818	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10394818G>A	ENST00000264832.3	+	4	1072	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.Q27Q|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	249	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.Q249Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CGGAGGCCCAGGTCCACCTGG	0.647																																						ENST00000264832.3																			1	Substitution - coding silent(1)	p.Q249Q(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(745-747)caG>caA		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						69.0	57.0	61.0					19																	10394818		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394818G>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.747G>A	19.37:g.10394818G>A						CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.Q27Q	p.Q249Q	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1072	+			249			Ig-like C2-type 3.		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.747G>A	CCDS12231.1																																																																																				0.647	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			4	55	0	0	0	1	0	4	55				
PPP2R3A	5523	broad.mit.edu	37	3	135801246	135801246	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:135801246C>T	ENST00000264977.3	+	8	3388	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000492624.2_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	924					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S303F(1)|p.S924F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGATCTGTCTCGATACAAT	0.348																																						ENST00000264977.3																			2	Substitution - Missense(2)	p.S303F(1)|p.S924F(1)	prostate(2)	breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2770-2772)tCt>tTt		protein phosphatase 2, regulatory subunit B'', alpha							119.0	117.0	118.0					3																	135801246		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801246C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2771C>T	3.37:g.135801246C>T	ENSP00000264977:p.Ser924Phe					PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F	p.S924F	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3388	+			924					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2771C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990868	0.54041	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.54866	0.55;0.55;0.55	5.63	5.63	0.86233	EF-hand-like domain (1);	0.292074	0.30639	N	0.009198	T	0.64327	0.2588	M	0.68317	2.08	0.80722	D	1	P;D	0.58620	0.801;0.983	P;P	0.55055	0.476;0.767	T	0.65455	-0.6164	10	0.51188	T	0.08	.	14.2951	0.66308	0.0:0.8515:0.1484:0.0	.	303;924	Q06190-2;Q06190	.;P2R3A_HUMAN	F	924;188;303	ENSP00000264977:S924F;ENSP00000419344:S188F;ENSP00000334748:S303F	ENSP00000264977:S924F	S	+	2	0	PPP2R3A	137283936	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.492000	0.45311	2.652000	0.90054	0.563000	0.77884	TCT		0.348	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		12	166	0	0	0	1	0	12	166				
FERMT1	55612	broad.mit.edu	37	20	6077614	6077614	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:6077614C>T	ENST00000217289.4	-	8	1812	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	FERMT1_ENST00000478194.1_5'Flank|FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	342	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.E342K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTCTATTTCATCAACCTCG	0.418																																						ENST00000217289.4																			2	Substitution - Missense(2)	p.E342K(2)	prostate(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1024-1026)Gaa>Aaa		fermitin family member 1							158.0	175.0	169.0					20																	6077614		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6077614C>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1024G>A	20.37:g.6077614C>T	ENSP00000217289:p.Glu342Lys					FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	p.E342K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			8	1812	-			342			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1024G>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244258	0.59103	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.83312	0.5227	M	0.79805	2.47	0.80722	D	1	B;B;B	0.26512	0.151;0.074;0.151	B;B;B	0.36766	0.232;0.139;0.232	T	0.82010	-0.0669	10	0.56958	D	0.05	-39.9161	19.1164	0.93343	0.0:1.0:0.0:0.0	.	342;342;342	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	K	342;85;342	ENSP00000217289:E342K;ENSP00000441063:E85K	ENSP00000217289:E342K	E	-	1	0	FERMT1	6025614	1.000000	0.71417	0.198000	0.23420	0.053000	0.15095	7.221000	0.78016	2.610000	0.88304	0.555000	0.69702	GAA		0.418	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		8	393	0	0	0	1	0	8	393				
SLC35F5	80255	broad.mit.edu	37	2	114501368	114501368	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:114501368C>T	ENST00000245680.2	-	6	897	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	162					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.E162K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TACAGAGGTTCACTCTGGAAT	0.323																																						ENST00000245680.2																			1	Substitution - Missense(1)	p.E162K(1)	prostate(1)	endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(484-486)Gaa>Aaa		solute carrier family 35, member F5							155.0	151.0	153.0					2																	114501368		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114501368C>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.484G>A	2.37:g.114501368C>T	ENSP00000245680:p.Glu162Lys					SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	p.E162K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			6	897	-			162					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.484G>A	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207455	0.95033	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.47177	0.85;0.85	5.35	5.35	0.76521	.	0.122791	0.53938	D	0.000051	T	0.58337	0.2115	L	0.31926	0.97	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.988;0.993	D;P;D	0.75020	0.985;0.794;0.971	T	0.49194	-0.8965	10	0.23891	T	0.37	-19.4832	19.2535	0.93935	0.0:1.0:0.0:0.0	.	162;156;162	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	K	162;156;156	ENSP00000245680:E162K;ENSP00000386754:E156K	ENSP00000245680:E162K	E	-	1	0	SLC35F5	114217838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.582000	0.74049	2.780000	0.95670	0.655000	0.94253	GAA		0.323	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		69	196	0	0	0	1	0	69	196				
BRINP3	339479	broad.mit.edu	37	1	190129810	190129810	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:190129810A>G	ENST00000367462.3	-	7	1403	c.1172T>C	c.(1171-1173)cTg>cCg	p.L391P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L289P	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	391					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.L391P(1)									TTGTCTTGGCAGGCTGATGAG	0.373																																						ENST00000367462.3																			1	Substitution - Missense(1)	p.L391P(1)	prostate(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1171-1173)cTg>cCg									101.0	97.0	98.0					1																	190129810		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129810A>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1172T>C	1.37:g.190129810A>G	ENSP00000356432:p.Leu391Pro					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L289P	p.L391P	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1403	-	Prostate(682;0.198)		391					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1172T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046078	0.75846	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26957	1.97;1.7	5.6	5.6	0.85130	.	0.168530	0.40554	N	0.001065	T	0.46073	0.1374	M	0.68317	2.08	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.61658	0.892;0.69	T	0.46871	-0.9160	10	0.87932	D	0	.	13.7209	0.62725	1.0:0.0:0.0:0.0	.	289;391	B7Z260;Q76B58	.;FAM5C_HUMAN	P	391;289	ENSP00000356432:L391P;ENSP00000438022:L289P	ENSP00000356432:L391P	L	-	2	0	FAM5C	188396433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.134000	0.65973	0.467000	0.42956	CTG		0.373	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		13	135	0	0	0	1	0	13	135				
DNMT3A	1788	broad.mit.edu	37	2	25505422	25505422	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:25505422G>A	ENST00000264709.3	-	4	673	c.336C>T	c.(334-336)ggC>ggT	p.G112G	DNMT3A_ENST00000406659.3_Silent_p.G112G|DNMT3A_ENST00000321117.5_Silent_p.G112G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	112					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.G112G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCCCCGCCCTTCTGCC	0.667			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - coding silent(1)	p.G112G(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(334-336)ggC>ggT		DNA (cytosine-5-)-methyltransferase 3 alpha							30.0	36.0	34.0					2																	25505422		2202	4299	6501	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25505422G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.336C>T	2.37:g.25505422G>A						DNMT3A_ENST00000321117.5_Silent_p.G112G|DNMT3A_ENST00000406659.3_Silent_p.G112G	p.G112G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			4	673	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		112					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.336C>T	CCDS33157.1																																																																																				0.667	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	96	0	0	0	1	0	4	96				
KIRREL	55243	broad.mit.edu	37	1	158064571	158064571	+	Silent	SNP	C	C	T	rs369421466		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158064571C>T	ENST00000359209.6	+	15	2002	c.1935C>T	c.(1933-1935)agC>agT	p.S645S	KIRREL_ENST00000368173.3_Silent_p.S661S|KIRREL_ENST00000416935.2_Silent_p.S545S|KIRREL_ENST00000392272.2_Silent_p.S542S|KIRREL_ENST00000360089.4_Silent_p.S481S|KIRREL_ENST00000368172.1_Silent_p.S459S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	645					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.S661S(1)|p.S481S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCACTCCAGCGGCTATGCCC	0.672																																						ENST00000368172.1																			2	Substitution - coding silent(2)	p.S661S(1)|p.S481S(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1375-1377)agC>agT		kin of IRRE like (Drosophila)		C		0,4406		0,0,2203	43.0	47.0	45.0		1935	-1.0	1.0	1		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIRREL	NM_018240.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		645/758	158064571	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158064571C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1935C>T	1.37:g.158064571C>T						KIRREL_ENST00000416935.2_Silent_p.S545S|KIRREL_ENST00000392272.2_Silent_p.S542S|KIRREL_ENST00000359209.6_Silent_p.S645S|KIRREL_ENST00000368173.3_Silent_p.S661S|KIRREL_ENST00000360089.4_Silent_p.S481S	p.S459S			Q96J84	KIRR1_HUMAN			11	1389	+	all_hematologic(112;0.0378)		645			Ig-like C2-type 5.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.1377C>T	CCDS1172.2																																																																																				0.672	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		6	39	0	0	0	1	0	6	39				
CHRND	1144	broad.mit.edu	37	2	233394757	233394757	+	Missense_Mutation	SNP	G	G	A	rs148869069	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:233394757G>A	ENST00000258385.3	+	7	760	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.R228H|CHRND_ENST00000536614.1_Silent_p.P206P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	243					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CTCATCATCCGCCGCAAGCCC	0.607																																						ENST00000258385.3																			2	Substitution - Missense(2)	p.R243H(2)	ovary(1)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(727-729)cGc>cAc		cholinergic receptor, nicotinic, delta (muscle)		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	174.0	143.0	154.0		728	5.2	1.0	2	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CHRND	NM_000751.1	29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	243/518	233394757	4,13002	2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394757G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.728G>A	2.37:g.233394757G>A	ENSP00000258385:p.Arg243His					CHRND_ENST00000543200.1_Missense_Mutation_p.R228H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Silent_p.P206P	p.R243H	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	760	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	243					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.728G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393946	0.83011	6.81E-4	1.16E-4	ENSG00000135902	ENST00000543200;ENST00000258385	T;T	0.80738	-1.41;-1.41	5.18	5.18	0.71444	Neurotransmitter-gated ion-channel ligand-binding (3);	0.418674	0.24967	N	0.034174	D	0.88258	0.6388	M	0.86343	2.81	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.994	D;D;D	0.64144	0.918;0.922;0.922	D	0.88969	0.3399	10	0.87932	D	0	.	7.0628	0.25135	0.212:0.0:0.788:0.0	.	228;243;243	B4DT92;A8K661;Q07001	.;.;ACHD_HUMAN	H	228;243	ENSP00000438380:R228H;ENSP00000258385:R243H	ENSP00000258385:R243H	R	+	2	0	CHRND	233103001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.605000	0.88082	0.655000	0.94253	CGC		0.607	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			18	57	0	0	0	1	0	18	57				
ERMP1	79956	broad.mit.edu	37	9	5798848	5798848	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:5798848A>C	ENST00000339450.5	-	12	2317	c.2228T>G	c.(2227-2229)cTt>cGt	p.L743R	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	743						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L743R(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AAAACCACAAAGAGGTGCATT	0.403																																						ENST00000339450.5																			1	Substitution - Missense(1)	p.L743R(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(2227-2229)cTt>cGt		endoplasmic reticulum metallopeptidase 1							129.0	122.0	124.0					9																	5798848		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5798848A>C	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2228T>G	9.37:g.5798848A>C	ENSP00000340427:p.Leu743Arg					ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R|ERMP1_ENST00000381506.3_3'UTR	p.L743R	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	12	2317	-		Acute lymphoblastic leukemia(23;0.158)	743					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.2228T>G	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733830	0.69189	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.24151	1.87;1.87	5.59	5.59	0.84812	.	0.213634	0.49916	D	0.000126	T	0.31888	0.0811	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	P	0.51615	0.675	T	0.01951	-1.1241	10	0.39692	T	0.17	-13.1757	15.7672	0.78135	1.0:0.0:0.0:0.0	.	743	Q7Z2K6	ERMP1_HUMAN	R	743;321	ENSP00000340427:L743R;ENSP00000439368:L321R	ENSP00000340427:L743R	L	-	2	0	ERMP1	5788848	1.000000	0.71417	0.650000	0.29550	0.951000	0.60555	5.555000	0.67301	2.123000	0.65237	0.383000	0.25322	CTT		0.403	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		5	72	0	0	0	1	0	5	72				
FNIP2	57600	broad.mit.edu	37	4	159790453	159790453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:159790453C>T	ENST00000264433.6	+	13	2740	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	889	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R215*(1)|p.R889*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGACATTCCCCGAAATGAAAG	0.592																																						ENST00000264433.6																			2	Substitution - Nonsense(2)	p.R215*(1)|p.R889*(1)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2665-2667)Cga>Tga		folliculin interacting protein 2							26.0	29.0	28.0					4																	159790453		2074	4210	6284	SO:0001587	stop_gained	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790453C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2665C>T	4.37:g.159790453C>T	ENSP00000264433:p.Arg889*					FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	p.R889*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2740	+	all_hematologic(180;0.24)		889			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Nonsense_Mutation	SNP	ENST00000264433.6	37	c.2665C>T	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321145	0.95682	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	.	.	.	5.57	1.61	0.23674	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.649	0.62299	0.5771:0.4229:0.0:0.0	.	.	.	.	X	889;912	.	.	R	+	1	2	FNIP2	160009903	0.998000	0.40836	0.980000	0.43619	0.310000	0.27922	2.869000	0.48444	0.092000	0.17331	-0.274000	0.10170	CGA		0.592	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		3	27	0	0	0	1	0	3	27				
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs150470		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11014937C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2528+1G>A	21.37:g.11014937C>T										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	808	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.328	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	3	54	0	0	0	1	0	3	54				
FAT4	79633	broad.mit.edu	37	4	126371608	126371608	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371608T>A	ENST00000394329.3	+	9	9450	c.9437T>A	c.(9436-9438)tTa>tAa	p.L3146*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3146	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3146*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGTATATTAACACTAGCC	0.398																																						ENST00000394329.3																			2	Substitution - Nonsense(2)	p.L3146*(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9436-9438)tTa>tAa		FAT atypical cadherin 4							69.0	72.0	71.0					4																	126371608		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371608T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9437T>A	4.37:g.126371608T>A	ENSP00000377862:p.Leu3146*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	p.L3146*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9450	+			3146			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.9437T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	48	14.797669	0.99810	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.63	5.63	0.86233	.	0.339073	0.15635	U	0.252211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	.	.	.	X	3146;1444	.	ENSP00000335169:L1444X	L	+	2	0	FAT4	126591058	0.994000	0.37717	0.005000	0.12908	0.098000	0.18820	7.880000	0.87243	2.145000	0.66743	0.533000	0.62120	TTA		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	145	0	0	0	1	0	4	145				
L3MBTL1	26013	broad.mit.edu	37	20	42161556	42161556	+	Silent	SNP	T	T	C	rs201640833		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:42161556T>C	ENST00000427442.2	+	12	1521	c.1362T>C	c.(1360-1362)taT>taC	p.Y454Y	L3MBTL1_ENST00000444063.1_Silent_p.Y386Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y|L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	386					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y454Y(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGATACTTATGACTACTGGT	0.572																																						ENST00000444063.1																			1	Substitution - coding silent(1)	p.Y454Y(1)	prostate(1)	breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1156-1158)taT>taC		l(3)mbt-like 1 (Drosophila)							106.0	87.0	93.0					20																	42161556		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42161556T>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1362T>C	20.37:g.42161556T>C						L3MBTL1_ENST00000418998.1_Silent_p.Y454Y|L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000427442.2_Silent_p.Y454Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y	p.Y386Y			Q9Y468	LMBL1_HUMAN			9	1290	+			386			Interaction with monomethylated and dimethylated peptides.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1158T>C	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	T	9.080	0.999146	0.19121	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.18	-7.69	0.01263	.	.	.	.	.	T	0.62454	0.2429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67833	-0.5568	4	.	.	.	.	16.0457	0.80720	0.0:0.308:0.0:0.692	.	.	.	.	T	77	.	.	M	+	2	0	L3MBTL1	41594970	0.001000	0.12720	0.794000	0.32065	0.989000	0.77384	-1.466000	0.02355	-1.324000	0.02272	-0.285000	0.09966	ATG		0.572	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		7	77	0	0	0	1	0	7	77				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.chr17:7577548C>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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	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	865	-		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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	49	0	0	0	1	0	12	49				
SCN11A	11280	broad.mit.edu	37	3	38991766	38991766	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:38991766G>A	ENST00000302328.3	-	1	286	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R30W|SCN11A_ENST00000450244.1_Missense_Mutation_p.R30W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R30W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	30					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R30W(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGCAATCCGCTTCTCAATT	0.517																																						ENST00000450244.1																			1	Substitution - Missense(1)	p.R30W(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(88-90)Cgg>Tgg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						118.0	111.0	113.0					3																	38991766		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38991766G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.88C>T	3.37:g.38991766G>A	ENSP00000307599:p.Arg30Trp					SCN11A_ENST00000456224.3_Missense_Mutation_p.R30W|SCN11A_ENST00000444237.2_Missense_Mutation_p.R30W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R30W	p.R30W			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	1	286	-			30					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.88C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331773	0.81801	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97959	-4.63;-4.63;-4.56;-4.47	5.08	3.26	0.37387	.	0.738998	0.11885	N	0.520110	D	0.98664	0.9552	M	0.92268	3.29	0.34374	D	0.692398	D	0.76494	0.999	P	0.57846	0.828	D	0.98438	1.0585	10	0.87932	D	0	.	12.1222	0.53897	0.0:0.0:0.6885:0.3115	.	30	Q9UI33	SCNBA_HUMAN	W	30	ENSP00000307599:R30W;ENSP00000400945:R30W;ENSP00000416757:R30W;ENSP00000408028:R30W	ENSP00000307599:R30W	R	-	1	2	SCN11A	38966770	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	2.892000	0.48625	0.514000	0.28300	0.655000	0.94253	CGG		0.517	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		9	216	0	0	0	1	0	9	216				
PRR22	163154	broad.mit.edu	37	19	5784048	5784048	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:5784048T>C	ENST00000419421.2	-	3	314	c.210A>G	c.(208-210)ccA>ccG	p.P70P	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	70								p.P68P(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AGCACCCGCATGGGGCCATCT	0.677																																						ENST00000419421.2																			1	Substitution - coding silent(1)	p.P68P(1)	prostate(1)	endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(208-210)ccA>ccG		proline rich 22							23.0	31.0	28.0					19																	5784048		2175	4278	6453	SO:0001819	synonymous_variant	163154							g.chr19:5784048T>C	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.210A>G	19.37:g.5784048T>C						CTB-54O9.9_ENST00000586012.1_3'UTR	p.P70P	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	314	-			68					E9PB31	Silent	SNP	ENST00000419421.2	37	c.210A>G	CCDS45933.1																																																																																				0.677	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		3	45	0	0	0	1	0	3	45				
SPTBN5	51332	broad.mit.edu	37	15	42150888	42150888	+	Missense_Mutation	SNP	G	G	A	rs890503	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42150888G>A	ENST00000320955.6	-	49	8365	c.8138C>T	c.(8137-8139)aCa>aTa	p.T2713I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2713					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.T2713I(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCATGGCTGTGTCCAGCAA	0.632													G|||	1133	0.226238	0.295	0.2061	5008	,	,		20335	0.0357		0.325	False		,,,				2504	0.2423					ENST00000320955.6																			2	Substitution - Missense(2)	p.T2713I(2)	ovary(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(8137-8139)aCa>aTa		spectrin, beta, non-erythrocytic 5		G	ILE/THR	1330,2976		208,914,1031	26.0	29.0	28.0		8033	4.0	0.1	15	dbSNP_86	28	2670,5846		414,1842,2002	yes	missense	SPTBN5	NM_016642.2	89	622,2756,3033	AA,AG,GG		31.3527,30.8871,31.1964	benign	2678/3640	42150888	4000,8822	2153	4258	6411	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42150888G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8138C>T	15.37:g.42150888G>A	ENSP00000317790:p.Thr2713Ile						p.T2713I	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	49	8365	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2713						Missense_Mutation	SNP	ENST00000320955.6	37	c.8138C>T		461	0.21108058608058608	135	0.27439024390243905	76	0.20994475138121546	14	0.024475524475524476	236	0.3113456464379947	.	10.42	1.345440	0.24426	0.308871	0.313527	ENSG00000137877	ENST00000320955	T	0.45668	0.89	4.94	4.03	0.46877	.	0.085238	0.47852	D	0.000214	T	0.00012	0.0000	N	0.12182	0.205	0.41138	P	0.01406099999999999	P	0.35821	0.523	B	0.35859	0.212	T	0.39860	-0.9593	9	0.14656	T	0.56	.	10.4904	0.44748	0.1566:0.0:0.8434:0.0	rs890503;rs890503	2713	Q9NRC6	SPTN5_HUMAN	I	2713	ENSP00000317790:T2713I	ENSP00000317790:T2713I	T	-	2	0	SPTBN5	39938180	1.000000	0.71417	0.094000	0.20943	0.007000	0.05969	5.383000	0.66219	1.067000	0.40740	0.467000	0.42956	ACA		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	7	0	0	0	1	0	7	7				
CAPN3	825	broad.mit.edu	37	15	42681231	42681231	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42681231T>G	ENST00000397163.3	+	5	957	c.738T>G	c.(736-738)agT>agG	p.S246R	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	246	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S246R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGCTCCTAGTGACATGTACA	0.542																																						ENST00000397163.3																			1	Substitution - Missense(1)	p.S246R(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(736-738)agT>agG		calpain 3, (p94)							123.0	116.0	119.0					15																	42681231		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681231T>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.738T>G	15.37:g.42681231T>G	ENSP00000380349:p.Ser246Arg					CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|RP11-164J13.1_ENST00000495723.1_RNA	p.S246R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	957	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	246			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.738T>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	T	3.063	-0.192787	0.06259	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.41	-2.94	0.05581	Peptidase C2, calpain, catalytic domain (3);	0.121669	0.53938	N	0.000054	D	0.87736	0.6252	N	0.17379	0.485	0.32054	N	0.596627	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.0;0.001;0.001;0.002	T	0.77590	-0.2531	10	0.11485	T	0.65	.	0.8154	0.01101	0.3472:0.1163:0.2836:0.2529	.	159;159;246;246;246;159	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	R	159;246;246;246;246	ENSP00000348667:S159R;ENSP00000380349:S246R;ENSP00000350181:S246R;ENSP00000183936:S246R;ENSP00000326281:S246R	ENSP00000326281:S246R	S	+	3	2	CAPN3	40468523	1.000000	0.71417	0.961000	0.40146	0.156000	0.22039	1.077000	0.30741	-0.716000	0.04962	-1.288000	0.01363	AGT		0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			17	194	0	0	0	1	0	17	194				
KIF23	9493	broad.mit.edu	37	15	69708370	69708370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:69708370G>A	ENST00000260363.4	+	2	166	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	KIF23_ENST00000559279.1_Missense_Mutation_p.G17R|KIF23_ENST00000352331.4_Missense_Mutation_p.G17R|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|KIF23_ENST00000395392.2_Missense_Mutation_p.G17R	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	17					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.G17R(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CGTGAAAAAAGGGTCCCAAAC	0.378																																						ENST00000260363.4																			2	Substitution - Missense(2)	p.G17R(2)	prostate(2)	central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(49-51)Ggg>Agg		kinesin family member 23							81.0	82.0	82.0					15																	69708370		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69708370G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.49G>A	15.37:g.69708370G>A	ENSP00000260363:p.Gly17Arg					KIF23_ENST00000559279.1_Missense_Mutation_p.G17R|KIF23_ENST00000395392.2_Missense_Mutation_p.G17R|KIF23_ENST00000352331.4_Missense_Mutation_p.G17R	p.G17R	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			2	166	+			17			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.49G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492784	0.26774	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.73789	-0.78;-0.76;-0.78	4.74	4.74	0.60224	.	0.139228	0.47455	D	0.000234	T	0.63414	0.2509	N	0.11201	0.11	0.80722	D	1	D;B	0.53745	0.962;0.04	P;B	0.49999	0.628;0.005	T	0.63994	-0.6511	10	0.29301	T	0.29	.	13.5636	0.61804	0.0:0.0:1.0:0.0	.	17;17	Q02241-2;Q02241	.;KIF23_HUMAN	R	17	ENSP00000260363:G17R;ENSP00000304978:G17R;ENSP00000378790:G17R	ENSP00000260363:G17R	G	+	1	0	KIF23	67495424	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	1.659000	0.37387	2.342000	0.79632	0.491000	0.48974	GGG		0.378	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				3	42	0	0	0	1	0	3	42				
PHTF2	57157	broad.mit.edu	37	7	77567152	77567152	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:77567152C>T	ENST00000248550.7	+	12	1540	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N|PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000416283.2_Silent_p.N454N|PHTF2_ENST00000422959.2_Silent_p.N454N			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGATAATGAACAGAGTGAGTT	0.308																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1360-1362)aaC>aaT		putative homeodomain transcription factor 2							58.0	55.0	56.0					7																	77567152		1804	4066	5870	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77567152C>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1464C>T	7.37:g.77567152C>T						PHTF2_ENST00000422959.2_Silent_p.N454N|PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000248550.7_Silent_p.N488N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N	p.N454N	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			11	1488	+			488					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.1362C>T																																																																																					0.308	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		6	55	0	0	0	1	0	6	55				
GOT1	2805	broad.mit.edu	37	10	101163490	101163490	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:101163490C>A	ENST00000370508.5	-	6	811	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W	GOT1_ENST00000543866.1_Missense_Mutation_p.G241W	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	262					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.G262W(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CTGTAGAGCCCGAAGTTCTTG	0.537																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			2	Substitution - Missense(2)	p.G262W(2)	prostate(1)|lung(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(784-786)Ggg>Tgg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						81.0	78.0	79.0					10																	101163490		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101163490C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.784G>T	10.37:g.101163490C>A	ENSP00000359539:p.Gly262Trp					GOT1_ENST00000543866.1_Missense_Mutation_p.G241W	p.G262W	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	6	811	-		Ovarian(717;0.028)|Colorectal(252;0.234)	262					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.784G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710865	0.89112	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.95756	-3.8;-3.8	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096735	0.64402	D	0.000001	D	0.98720	0.9570	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99497	1.0952	10	0.87932	D	0	-10.0104	19.3592	0.94428	0.0:1.0:0.0:0.0	.	262	P17174	AATC_HUMAN	W	262;215;241	ENSP00000359539:G262W;ENSP00000445578:G241W	ENSP00000359539:G262W	G	-	1	0	GOT1	101153480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.647000	0.89833	0.558000	0.71614	GGG		0.537	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		3	111	1	0	0.115264	1	0.118219	3	111				
KCNA2	3737	broad.mit.edu	37	1	111147494	111147494	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:111147494C>T	ENST00000485317.1	-	0	584				KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_De_novo_Start_InFrame|KCNA2_ENST00000369770.3_De_novo_Start_InFrame|KCNA2_ENST00000440270.1_De_novo_Start_InFrame			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2						optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CCAGGAAGCACAGGAGCATTG	0.582																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32								potassium voltage-gated channel, shaker-related subfamily, member 2																																						3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147494C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567		1.37:g.111147494C>T						KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_De_novo_Start_InFrame|KCNA2_ENST00000316361.4_De_novo_Start_InFrame|KCNA2_ENST00000369770.3_De_novo_Start_InFrame				P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	0	584	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)						Q86XG6	Translation_Start_Site	SNP	ENST00000485317.1	37		CCDS827.1																																																																																				0.582	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		13	48	0	0	0	1	0	13	48				
MARS2	92935	broad.mit.edu	37	2	198570300	198570300	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:198570300G>T	ENST00000282276.6	+	1	214	c.171G>T	c.(169-171)gcG>gcT	p.A57A	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	57					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.A57A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGAACGCGGCGCCGCACATCG	0.647																																						ENST00000282276.6																			1	Substitution - coding silent(1)	p.A57A(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(169-171)gcG>gcT		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)																																			SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570300G>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.171G>T	2.37:g.198570300G>T						AC011997.1_ENST00000409845.1_Intron	p.A57A	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	214	+			57					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.171G>T	CCDS33358.1																																																																																				0.647	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		6	30	1	0	0.00116845	1	0.00126318	6	30				
FAT4	79633	broad.mit.edu	37	4	126371768	126371768	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371768T>C	ENST00000394329.3	+	9	9610	c.9597T>C	c.(9595-9597)taT>taC	p.Y3199Y	FAT4_ENST00000335110.5_Silent_p.Y1497Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3199	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y3199Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATGACTATTTCCCTACTG	0.418																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.Y3199Y(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9595-9597)taT>taC		FAT atypical cadherin 4							98.0	88.0	91.0					4																	126371768		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371768T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9597T>C	4.37:g.126371768T>C						FAT4_ENST00000335110.5_Silent_p.Y1497Y	p.Y3199Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9610	+			3199			Cadherin 31.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9597T>C	CCDS3732.3																																																																																				0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	141	0	0	0	1	0	9	141				
WDR17	116966	broad.mit.edu	37	4	177083293	177083293	+	Missense_Mutation	SNP	G	G	A	rs189140426		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:177083293G>A	ENST00000280190.4	+	22	3046	c.2890G>A	c.(2890-2892)Gca>Aca	p.A964T	WDR17_ENST00000393643.2_Missense_Mutation_p.A940T|WDR17_ENST00000508596.1_Missense_Mutation_p.A940T|WDR17_ENST00000507824.2_Missense_Mutation_p.A947T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	964								p.A964T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGTACTAGCCGCATGTTGCCA	0.353													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18199	0.0		0.0	False		,,,				2504	0.0					ENST00000393643.2																			1	Substitution - Missense(1)	p.A964T(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2818-2820)Gca>Aca		WD repeat domain 17							88.0	85.0	86.0					4																	177083293		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177083293G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2890G>A	4.37:g.177083293G>A	ENSP00000280190:p.Ala964Thr					WDR17_ENST00000507824.2_Missense_Mutation_p.A947T|WDR17_ENST00000508596.1_Missense_Mutation_p.A940T|WDR17_ENST00000280190.4_Missense_Mutation_p.A964T	p.A940T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	21	3070	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	964					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2818G>A	CCDS3825.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	32|32	5.112128|5.112128	0.94339|0.94339	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.73897|.	-0.79;-0.71;-0.78|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.76494|.	0.999;0.992;0.996|.	P;P;P|.	0.56563|.	0.801;0.603;0.603|.	T|T	0.74811|0.74811	-0.3538|-0.3538	10|5	0.87932|.	D|.	0|.	-18.4811|-18.4811	19.8616|19.8616	0.96786|0.96786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	940;940;964|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	T|H	940;940;964;947|206	ENSP00000422763:A940T;ENSP00000377258:A940T;ENSP00000280190:A964T|.	ENSP00000280190:A964T|.	A|R	+|+	1|2	0|0	WDR17|WDR17	177320287|177320287	1.000000|1.000000	0.71417|0.71417	0.205000|0.205000	0.23548|0.23548	0.878000|0.878000	0.50629|0.50629	7.287000|7.287000	0.78681|0.78681	2.705000|2.705000	0.92388|0.92388	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.353	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			15	62	0	0	0	1	0	15	62				
HLTF	6596	broad.mit.edu	37	3	148760005	148760005	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:148760005A>T	ENST00000310053.5	-	19	2338	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I|HLTF_ENST00000392912.2_Silent_p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	715					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I715I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATGGCAACAAATTTGCCGCA	0.373																																						ENST00000310053.5																			1	Substitution - coding silent(1)	p.I715I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2143-2145)atT>atA		helicase-like transcription factor							91.0	89.0	90.0					3																	148760005		2203	4300	6503	SO:0001819	synonymous_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148760005A>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2145T>A	3.37:g.148760005A>T						HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000392912.2_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I	p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		19	2338	-			715					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	c.2145T>A	CCDS33875.1																																																																																				0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			42	113	0	0	0	1	0	42	113				
NPAS2	4862	broad.mit.edu	37	2	101607290	101607290	+	Silent	SNP	C	C	T	rs146215582	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:101607290C>T	ENST00000335681.5	+	19	2352	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	NPAS2_ENST00000542504.1_Silent_p.D754D|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	689					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D689D(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCCTGTGACGCAAGGCAGC	0.607																																						ENST00000335681.5																			1	Substitution - coding silent(1)	p.D689D(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2065-2067)gaC>gaT		neuronal PAS domain protein 2		C		1,4405	2.1+/-5.4	0,1,2202	72.0	63.0	66.0		2067	-6.1	0.0	2	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NPAS2	NM_002518.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		689/825	101607290	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101607290C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2067C>T	2.37:g.101607290C>T						NPAS2_ENST00000542504.1_Silent_p.D754D	p.D689D	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			19	2352	+			689					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.2067C>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	8.453	0.853537	0.17106	2.27E-4	2.33E-4	ENSG00000170485	ENST00000433408	.	.	.	4.63	-6.09	0.02145	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.33186	D	0.550166	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	0.4387	0.00483	0.2119:0.2004:0.213:0.3747	.	.	.	.	C	188	.	.	R	+	1	0	NPAS2	100973722	0.000000	0.05858	0.007000	0.13788	0.950000	0.60333	-2.679000	0.00838	-1.138000	0.02884	0.462000	0.41574	CGC		0.607	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			8	46	0	0	0	1	0	8	46				
TSHZ3	57616	broad.mit.edu	37	19	31770341	31770341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:31770341C>T	ENST00000240587.4	-	2	685	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	120					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A120T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTACACGGCCTTCATCTGC	0.557																																						ENST00000240587.4																			1	Substitution - Missense(1)	p.A120T(1)	prostate(1)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(358-360)Gcc>Acc		teashirt zinc finger homeobox 3							130.0	135.0	133.0					19																	31770341		2180	4280	6460	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770341C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.358G>A	19.37:g.31770341C>T	ENSP00000240587:p.Ala120Thr						p.A120T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	685	-	Esophageal squamous(110;0.226)		120					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.358G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447397	0.84101	.	.	ENSG00000121297	ENST00000240587	T	0.22945	1.93	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000001	T	0.51041	0.1651	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.40136	-0.9579	10	0.49607	T	0.09	-22.9461	19.9924	0.97371	0.0:1.0:0.0:0.0	.	120	Q63HK5	TSH3_HUMAN	T	120	ENSP00000240587:A120T	ENSP00000240587:A120T	A	-	1	0	TSHZ3	36462181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.701000	0.92244	0.650000	0.86243	GCC		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	75	0	0	0	1	0	4	75				
SIK3	23387	broad.mit.edu	37	11	116767026	116767026	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116767026T>C	ENST00000292055.4	-	6	669	c.634A>G	c.(634-636)Aat>Gat	p.N212D	SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.N270D	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.N270D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCCGCAGATTCTGCAGTGTG	0.507																																						ENST00000375300.1																			1	Substitution - Missense(1)	p.N270D(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(808-810)Aat>Gat		SIK family kinase 3							96.0	92.0	93.0					11																	116767026		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116767026T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.634A>G	11.37:g.116767026T>C	ENSP00000292055:p.Asn212Asp					SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000375288.1_5'UTR	p.N270D			Q9Y2K2	SIK3_HUMAN			6	813	-			212					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.808A>G	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.035237|4.035237	0.75617|0.75617	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.44097	.|U	.|0.000490	T|T	0.42404|0.42404	0.1201|0.1201	N|N	0.01250|0.01250	-0.93|-0.93	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.36837	.|0.571;0.0;0.571	.|B;B;B	.|0.43990	.|0.27;0.007;0.438	T|T	0.57700|0.57700	-0.7766|-0.7766	5|10	.|0.46703	.|T	.|0.11	.|.	14.5398|14.5398	0.67984|0.67984	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|212;111;212	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	G|D	263;234;172|270;212;212;111	.|ENSP00000364449:N270D;ENSP00000292055:N212D;ENSP00000438108:N212D;ENSP00000415873:N111D	.|ENSP00000292055:N212D	E|N	-|-	2|1	0|0	SIK3|SIK3	116272236|116272236	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	6.167000|6.167000	0.71902|0.71902	2.085000|2.085000	0.62840|0.62840	0.460000|0.460000	0.39030|0.39030	GAA|AAT		0.507	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		6	116	0	0	0	1	0	6	116				
NBAS	51594	broad.mit.edu	37	2	15378658	15378658	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:15378658C>T	ENST00000281513.5	-	45	5902	c.5877G>A	c.(5875-5877)gaG>gaA	p.E1959E	NBAS_ENST00000441750.1_Silent_p.E1839E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1959					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E1959E(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAGTGATTTCTCCAGATGAT	0.408																																						ENST00000281513.5																			1	Substitution - coding silent(1)	p.E1959E(1)	prostate(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5875-5877)gaG>gaA		neuroblastoma amplified sequence							108.0	109.0	109.0					2																	15378658		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15378658C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5877G>A	2.37:g.15378658C>T						NBAS_ENST00000441750.1_Silent_p.E1839E	p.E1959E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			45	5902	-			1959					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.5877G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	9.238	1.037479	0.19669	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.97	2.06	0.26882	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53358	-0.8450	4	.	.	.	.	10.4579	0.44561	0.0:0.6657:0.0:0.3343	.	.	.	.	K	1007	.	.	R	-	2	0	NBAS	15296109	1.000000	0.71417	0.843000	0.33291	0.975000	0.68041	1.032000	0.30178	0.371000	0.24564	0.655000	0.94253	AGA		0.408	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		9	110	0	0	0	1	0	9	110				
DPP8	54878	broad.mit.edu	37	15	65790302	65790302	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:65790302G>A	ENST00000341861.5	-	5	2243	c.663C>T	c.(661-663)tgC>tgT	p.C221C	DPP8_ENST00000559233.1_Silent_p.C221C|DPP8_ENST00000300141.6_Silent_p.C205C|DPP8_ENST00000358939.4_Silent_p.C205C|DPP8_ENST00000321147.6_Silent_p.C221C|DPP8_ENST00000321118.7_Silent_p.C221C|DPP8_ENST00000339244.5_Silent_p.C221C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	221					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.C205C(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATCAGCAGGGCATAATTTTG	0.383																																						ENST00000341861.5																			1	Substitution - coding silent(1)	p.C205C(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(661-663)tgC>tgT		dipeptidyl-peptidase 8							166.0	135.0	145.0					15																	65790302		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65790302G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.663C>T	15.37:g.65790302G>A						DPP8_ENST00000559233.1_Silent_p.C221C|DPP8_ENST00000358939.4_Silent_p.C205C|DPP8_ENST00000339244.5_Silent_p.C221C|DPP8_ENST00000321118.7_Silent_p.C221C|DPP8_ENST00000321147.6_Silent_p.C221C|DPP8_ENST00000300141.6_Silent_p.C205C	p.C221C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			5	2243	-			221					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.663C>T	CCDS10207.1																																																																																				0.383	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		4	154	0	0	0	1	0	4	154				
RXRB	6257	broad.mit.edu	37	6	33165658	33165658	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:33165658C>T	ENST00000374680.3	-	4	912	c.701G>A	c.(700-702)cGc>cAc	p.R234H	RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|RXRB_ENST00000413614.2_Missense_Mutation_p.R138H|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	234					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R234H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCTTTGCGGATGGTGCG	0.542																																						ENST00000374680.3																			1	Substitution - Missense(1)	p.R234H(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(700-702)cGc>cAc		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						85.0	68.0	74.0					6																	33165658		1511	2709	4220	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33165658C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.701G>A	6.37:g.33165658C>T	ENSP00000363812:p.Arg234His					RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|RXRB_ENST00000413614.2_Missense_Mutation_p.R138H|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H	p.R234H	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			4	912	-			234					P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.701G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929967	0.92389	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	4.37	4.37	0.52481	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.056585	0.64402	D	0.000002	D	0.98305	0.9438	M	0.86268	2.805	0.58432	D	0.99999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.998;0.999;1.0;0.999;0.999;0.998;0.999	D	0.99113	1.0847	10	0.87932	D	0	.	14.8072	0.69965	0.0:1.0:0.0:0.0	.	138;234;117;44;234;234;274;234	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	H	234;234;44;138	ENSP00000363817:R234H;ENSP00000363812:R234H;ENSP00000439222:R44H;ENSP00000415561:R138H	ENSP00000363812:R234H	R	-	2	0	RXRB	33273636	0.994000	0.37717	0.981000	0.43875	0.830000	0.47004	5.882000	0.69714	2.428000	0.82296	0.448000	0.29417	CGC		0.542	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		3	73	0	0	0	1	0	3	73				
CDH16	1014	broad.mit.edu	37	16	66947138	66947138	+	Missense_Mutation	SNP	G	G	A	rs377681344	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:66947138G>A	ENST00000299752.4	-	9	1143	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A317V(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGGGGCCGCATAGTCCTC	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		17670	0.002		0.0	False		,,,				2504	0.0					ENST00000299752.4																			1	Substitution - Missense(1)	p.A317V(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(949-951)gCg>gTg		cadherin 16, KSP-cadherin		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	104.0	98.0	100.0		950,950,659,950	3.2	0.0	16		100	0,8600		0,0,4300	no	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	64,64,64,64	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	317/808,317/791,220/733,317/830	66947138	1,12999	2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66947138G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.950C>T	16.37:g.66947138G>A	ENSP00000299752:p.Ala317Val					CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V	p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	9	1143	-		Ovarian(137;0.0563)	317			Cadherin 3.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.950C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261961	0.23051	2.27E-4	0.0	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51817	0.69;0.69	5.29	3.2	0.36748	Cadherin (4);Cadherin-like (1);	0.377447	0.25552	N	0.029881	T	0.54711	0.1875	M	0.76574	2.34	0.09310	N	0.999998	P;P;D	0.54601	0.93;0.929;0.967	B;B;P	0.51999	0.307;0.355;0.687	T	0.50197	-0.8856	10	0.66056	D	0.02	-2.9976	7.8555	0.29480	0.0923:0.1635:0.7442:0.0	.	317;317;317	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	317;317;281	ENSP00000377619:A317V;ENSP00000299752:A317V	ENSP00000299752:A317V	A	-	2	0	CDH16	65504639	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.990000	0.29642	1.366000	0.46076	0.655000	0.94253	GCG		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		5	173	0	0	0	1	0	5	173				
TOM1L1	10040	broad.mit.edu	37	17	53007460	53007460	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:53007460G>T	ENST00000575882.1	+	8	1100	c.747G>T	c.(745-747)atG>atT	p.M249I	TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	249	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.M249I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCGGGAGATGCAGGAGAGGA	0.418																																						ENST00000575882.1																			1	Substitution - Missense(1)	p.M249I(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(745-747)atG>atT		target of myb1 (chicken)-like 1							201.0	178.0	186.0					17																	53007460		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53007460G>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.747G>T	17.37:g.53007460G>T	ENSP00000460823:p.Met249Ile					TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I	p.M249I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			8	1100	+			249			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.747G>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783638	0.70222	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.07	4.1	0.47936	GAT (2);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.83118	2.625	0.49798	D	0.999825	D;B;B;B;B	0.89917	1.0;0.124;0.041;0.124;0.295	D;B;B;B;B	0.97110	1.0;0.098;0.062;0.219;0.087	T	0.71932	-0.4443	10	0.54805	T	0.06	-12.5811	11.5199	0.50545	0.0865:0.0:0.9135:0.0	.	137;242;172;249;249	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	I	249;137;172;172	ENSP00000408958:M249I;ENSP00000441242:M137I;ENSP00000343901:M172I;ENSP00000443099:M172I	ENSP00000343901:M172I	M	+	3	0	TOM1L1	50362459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.526000	0.60566	1.361000	0.45981	-0.244000	0.11960	ATG		0.418	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		29	111	1	0	7.26314e-15	1	8.18382e-15	29	111				
CDC40	51362	broad.mit.edu	37	6	110547378	110547378	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:110547378C>T	ENST00000368932.1	+	14	1450	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000445340.2_Intron|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L			O60508	PRP17_HUMAN	cell division cycle 40	450					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.P450L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGGGATATCCCTGTGGATTTC	0.323																																						ENST00000368932.1																			1	Substitution - Missense(1)	p.P450L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(1348-1350)cCt>cTt		cell division cycle 40							78.0	76.0	77.0					6																	110547378		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110547378C>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1349C>T	6.37:g.110547378C>T	ENSP00000357928:p.Pro450Leu					CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L|CDC40_ENST00000368933.1_Missense_Mutation_p.P450L|CDC40_ENST00000445340.2_Intron	p.P450L			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	14	1450	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	450					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.1349C>T	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082886	0.94050	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92833	3.35	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	D	0.92192	0.5760	10	0.66056	D	0.02	-8.6595	20.4777	0.99188	0.0:1.0:0.0:0.0	.	450	O60508	PRP17_HUMAN	L	450	ENSP00000357928:P450L;ENSP00000357929:P450L;ENSP00000357926:P450L;ENSP00000304370:P450L	ENSP00000304370:P450L	P	+	2	0	CDC40	110654071	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CCT		0.323	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		25	88	0	0	0	1	0	25	88				
NIPAL4	348938	broad.mit.edu	37	5	156899410	156899410	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156899410C>T	ENST00000311946.7	+	6	959	c.843C>T	c.(841-843)taC>taT	p.Y281Y	NIPAL4_ENST00000435489.2_Silent_p.Y262Y|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	281						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.Y219Y(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCACGTTACGGGCAAAGGA	0.512											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311946.7																			1	Substitution - coding silent(1)	p.Y219Y(1)	prostate(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(841-843)taC>taT		NIPA-like domain containing 4							222.0	222.0	222.0					5																	156899410		2147	4258	6405	SO:0001819	synonymous_variant	348938					integral to membrane	receptor activity	g.chr5:156899410C>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.843C>T	5.37:g.156899410C>T			OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	NIPAL4_ENST00000435489.2_Silent_p.Y262Y|ADAM19_ENST00000430702.2_Intron	p.Y281Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			6	959	+			281					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Silent	SNP	ENST00000311946.7	37	c.843C>T	CCDS47328.1																																																																																				0.512	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		27	302	0	0	0	1	0	27	302				
LIMK2	3985	broad.mit.edu	37	22	31663865	31663865	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:31663865G>C	ENST00000331728.4	+	10	1346	c.1232G>C	c.(1231-1233)gGc>gCc	p.G411A	LIMK2_ENST00000333611.4_Missense_Mutation_p.G390A|LIMK2_ENST00000406516.1_Missense_Mutation_p.G333A|LIMK2_ENST00000444929.2_Missense_Mutation_p.G165A|LIMK2_ENST00000340552.4_Missense_Mutation_p.G390A	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G411A(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ATTGAGGGGGGCACACTGAAG	0.527																																						ENST00000331728.4																			2	Substitution - Missense(2)	p.G411A(2)	prostate(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1231-1233)gGc>gCc		LIM domain kinase 2							85.0	76.0	79.0					22																	31663865		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31663865G>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1232G>C	22.37:g.31663865G>C	ENSP00000332687:p.Gly411Ala					LIMK2_ENST00000340552.4_Missense_Mutation_p.G390A|LIMK2_ENST00000333611.4_Missense_Mutation_p.G390A|LIMK2_ENST00000444929.2_Missense_Mutation_p.G165A|LIMK2_ENST00000406516.1_Missense_Mutation_p.G333A	p.G411A	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			10	1346	+			411			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1232G>C	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	32	5.163870	0.94727	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.93604	-3.25;-2.55;-2.55;-2.55;-3.25	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97911	0.9313	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.998;0.998;0.999	D	0.98638	1.0674	10	0.87932	D	0	-36.9517	19.051	0.93046	0.0:0.0:1.0:0.0	.	443;390;165;411;333	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	A	333;165;411;443;390;390	ENSP00000384602:G333A;ENSP00000409522:G165A;ENSP00000332687:G411A;ENSP00000330470:G390A;ENSP00000339916:G390A	ENSP00000332687:G411A	G	+	2	0	LIMK2	29993865	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.745000	0.94114	0.655000	0.94253	GGC		0.527	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		6	113	0	0	0	1	0	6	113				
OR10Z1	128368	broad.mit.edu	37	1	158577155	158577155	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158577155G>T	ENST00000361284.1	+	1	927	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L309F(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGAGATTGCTGGGTAAAG	0.478																																						ENST00000361284.1																			1	Substitution - Missense(1)	p.L309F(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(925-927)ttG>ttT		olfactory receptor, family 10, subfamily Z, member 1							109.0	111.0	110.0					1																	158577155		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577155G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.927G>T	1.37:g.158577155G>T	ENSP00000354707:p.Leu309Phe						p.L309F	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	927	+	all_hematologic(112;0.0378)		309					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.927G>T	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	3.809	-0.040080	0.07497	.	.	ENSG00000198967	ENST00000361284	T	0.00532	6.75	5.57	-10.8	0.00216	.	0.323861	0.17213	N	0.182643	T	0.00073	0.0002	N	0.16656	0.425	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.51934	-0.8642	10	0.10377	T	0.69	.	0.5833	0.00715	0.281:0.1969:0.1282:0.3939	.	309	Q8NGY1	O10Z1_HUMAN	F	309	ENSP00000354707:L309F	ENSP00000354707:L309F	L	+	3	2	OR10Z1	156843779	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.617000	0.05584	-1.309000	0.02315	-0.188000	0.12872	TTG		0.478	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		11	241	1	0	1.58986e-06	1	1.76652e-06	11	241				
PPARD	5467	broad.mit.edu	37	6	35389697	35389697	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:35389697G>A	ENST00000311565.4	+	6	735	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PPARD_ENST00000444397.1_Missense_Mutation_p.R129H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Missense_Mutation_p.R26H|PPARD_ENST00000360694.3_Missense_Mutation_p.R129H|PPARD_ENST00000337400.2_Missense_Mutation_p.R129H|PPARD_ENST00000448077.2_Missense_Mutation_p.R90H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	129					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R129H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CAGTACTGCCGCTTCCAGAAG	0.572																																						ENST00000311565.4																			1	Substitution - Missense(1)	p.R129H(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(385-387)cGc>cAc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						68.0	63.0	65.0					6																	35389697		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35389697G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.386G>A	6.37:g.35389697G>A	ENSP00000310928:p.Arg129His					PPARD_ENST00000448077.2_Missense_Mutation_p.R90H|PPARD_ENST00000540939.1_Missense_Mutation_p.R26H|PPARD_ENST00000360694.3_Missense_Mutation_p.R129H|PPARD_ENST00000444397.1_Missense_Mutation_p.R129H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.R129H	p.R129H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			6	735	+			129					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.386G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191298	0.94923	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97517	1.0070	10	0.87932	D	0	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	90;129;129	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	H	90;129;129;129;129;26	ENSP00000414372:R90H;ENSP00000353916:R129H;ENSP00000410837:R129H;ENSP00000310928:R129H;ENSP00000337063:R129H;ENSP00000443759:R26H	ENSP00000310928:R129H	R	+	2	0	PPARD	35497675	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.657000	0.98554	2.325000	0.78763	0.561000	0.74099	CGC		0.572	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		9	50	0	0	0	1	0	9	50				
S1PR5	53637	broad.mit.edu	37	19	10625418	10625418	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10625418G>A	ENST00000439028.3	-	2	395	c.270C>T	c.(268-270)gcC>gcT	p.A90A	S1PR5_ENST00000333430.4_Silent_p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	90					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.A90A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GGATGTTGGCGGCGTAGGCGG	0.672																																						ENST00000439028.3																			1	Substitution - coding silent(1)	p.A90A(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(268-270)gcC>gcT		sphingosine-1-phosphate receptor 5							21.0	21.0	21.0					19																	10625418		2196	4298	6494	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625418G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.270C>T	19.37:g.10625418G>A						S1PR5_ENST00000333430.4_Silent_p.A90A	p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	395	-			90					Q6NW11	Silent	SNP	ENST00000439028.3	37	c.270C>T	CCDS12240.1																																																																																				0.672	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		5	4	0	0	0	1	0	5	4				
SLCO1C1	53919	broad.mit.edu	37	12	20890188	20890188	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:20890188C>A	ENST00000266509.2	+	11	1898	c.1530C>A	c.(1528-1530)aaC>aaA	p.N510K	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	510	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.N510K(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AAACCTCCAACAGGAGTGGAA	0.413																																						ENST00000381552.1																			1	Substitution - Missense(1)	p.N510K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1528-1530)aaC>aaA		solute carrier organic anion transporter family, member 1C1							94.0	88.0	90.0					12																	20890188		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890188C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1530C>A	12.37:g.20890188C>A	ENSP00000266509:p.Asn510Lys					SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K	p.N510K			Q9NYB5	SO1C1_HUMAN			11	1898	+	Esophageal squamous(101;0.149)		510			Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1530C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514714	0.04200	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	5.02	4.13	0.48395	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.592581	0.20053	N	0.100252	T	0.02193	0.0068	N	0.05078	-0.115	0.33263	D	0.559955	B;B;B;B	0.10296	0.003;0.001;0.002;0.002	B;B;B;B	0.16722	0.009;0.01;0.016;0.01	T	0.30736	-0.9968	10	0.06494	T	0.89	.	8.5671	0.33547	0.0:0.8252:0.0:0.1748	.	392;461;510;510	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	K	510;461;510;510;392	ENSP00000444149:N510K;ENSP00000438665:N461K;ENSP00000266509:N510K;ENSP00000370964:N510K;ENSP00000444527:N392K	ENSP00000266509:N510K	N	+	3	2	SLCO1C1	20781455	0.001000	0.12720	0.997000	0.53966	0.994000	0.84299	-0.196000	0.09532	2.770000	0.95276	0.650000	0.86243	AAC		0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		14	100	1	0	0.00185496	1	0.00197862	14	100				
RTP3	83597	broad.mit.edu	37	3	46542309	46542309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:46542309A>G	ENST00000296142.3	+	2	1191	c.619A>G	c.(619-621)Atc>Gtc	p.I207V		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	207					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.I207V(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAAAACCACATCTGTAGGAA	0.433																																						ENST00000296142.3																			1	Substitution - Missense(1)	p.I207V(1)	prostate(1)	endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(619-621)Atc>Gtc		receptor (chemosensory) transporter protein 3							77.0	75.0	75.0					3																	46542309		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542309A>G	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.619A>G	3.37:g.46542309A>G	ENSP00000296142:p.Ile207Val						p.I207V	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1191	+			207					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.619A>G	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.163646	0.00318	.	.	ENSG00000163825	ENST00000296142	T	0.17691	2.26	1.88	-2.46	0.06461	.	5.780470	0.00166	N	0.000003	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.02654	T	1	5.0533	2.6976	0.05139	0.5125:0.0:0.2852:0.2023	.	207	Q9BQQ7	RTP3_HUMAN	V	207	ENSP00000296142:I207V	ENSP00000296142:I207V	I	+	1	0	RTP3	46517313	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.131000	0.03238	-0.639000	0.05502	0.379000	0.24179	ATC		0.433	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		34	151	0	0	0	1	0	34	151				
YWHAH	7533	broad.mit.edu	37	22	32346379	32346379	+	Intron	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:32346379C>T	ENST00000248975.5	+	1	360				YWHAH_ENST00000397492.1_Missense_Mutation_p.P58S|YWHAH_ENST00000471374.1_Intron	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta						apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CGCCCCTACTCCTGGCTGCAG	0.522																																					Ovarian(98;460 2060 9263 44007)	ENST00000397492.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(172-174)Cct>Tct		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide							125.0	119.0	121.0					22																	32346379		876	1991	2867	SO:0001627	intron_variant	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32346379C>T	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.87+5573C>T	22.37:g.32346379C>T						YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron	p.P58S			Q04917	1433F_HUMAN			2	384	+			0						Missense_Mutation	SNP	ENST00000248975.5	37	c.172C>T	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	C	6.491	0.458805	0.12342	.	.	ENSG00000128245	ENST00000397492	.	.	.	3.78	-1.06	0.10002	.	.	.	.	.	T	0.34861	0.0912	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38802	-0.9644	5	0.87932	D	0	.	3.443	0.07470	0.0:0.4285:0.2009:0.3707	.	.	.	.	S	58	.	ENSP00000380629:P58S	P	+	1	0	YWHAH	30676379	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.643000	0.24750	-0.212000	0.10109	-0.251000	0.11542	CCT		0.522	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		25	90	0	0	0	1	0	25	90				
OR2T3	343173	broad.mit.edu	37	1	248637353	248637353	+	Missense_Mutation	SNP	T	T	A	rs201122477		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:248637353T>A	ENST00000359594.2	+	1	727	c.702T>A	c.(700-702)aaT>aaA	p.N234K		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N234K(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGATGAATTCTGCCGCCG	0.562																																						ENST00000359594.2																			1	Substitution - Missense(1)	p.N234K(1)	prostate(1)	breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(700-702)aaT>aaA		olfactory receptor, family 2, subfamily T, member 3							179.0	151.0	160.0					1																	248637353		2201	4299	6500	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637353T>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.702T>A	1.37:g.248637353T>A	ENSP00000352604:p.Asn234Lys						p.N234K	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	727	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.702T>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	t	11.33	1.606320	0.28623	.	.	ENSG00000196539	ENST00000359594	T	0.00340	8.04	2.37	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.25380	0.74	0.09310	N	1	B	0.34349	0.45	B	0.43658	0.426	T	0.14811	-1.0459	9	0.09338	T	0.73	.	3.1107	0.06357	0.21:0.4757:0.0:0.3142	.	234	Q8NH03	OR2T3_HUMAN	K	234	ENSP00000352604:N234K	ENSP00000352604:N234K	N	+	3	2	OR2T3	246703976	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-6.205000	0.00076	0.100000	0.17581	0.156000	0.16432	AAT		0.562	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		13	143	0	0	0	1	0	13	143				
ST6GALNAC6	30815	broad.mit.edu	37	9	130653032	130653032	+	Silent	SNP	G	G	A	rs140405426		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:130653032G>A	ENST00000373146.1	-	5	767	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ST6GALNAC6_ENST00000291839.5_Silent_p.L196L|ST6GALNAC6_ENST00000373144.3_Silent_p.L162L|ST6GALNAC6_ENST00000373142.1_Silent_p.L196L|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Silent_p.L162L|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	196					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.L196L(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCACACGCACGAGGCTGCCCT	0.637																																						ENST00000373146.1																			1	Substitution - coding silent(1)	p.L196L(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(586-588)ctC>ctT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6		G		2,4404	4.2+/-10.8	0,2,2201	49.0	54.0	52.0		588	-11.2	0.2	9	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous	ST6GALNAC6	NM_013443.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		196/334	130653032	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653032G>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.588C>T	9.37:g.130653032G>A						ST6GALNAC6_ENST00000291839.5_Silent_p.L196L|ST6GALNAC6_ENST00000373141.1_Silent_p.L162L|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373142.1_Silent_p.L196L|ST6GALNAC6_ENST00000373144.3_Silent_p.L162L|ST6GALNAC6_ENST00000485320.1_5'UTR	p.L196L			Q969X2	SIA7F_HUMAN			5	767	-			196					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.588C>T	CCDS6882.1																																																																																				0.637	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		9	75	0	0	0	1	0	9	75				
NEUROD4	58158	broad.mit.edu	37	12	55420976	55420976	+	Silent	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:55420976C>A	ENST00000242994.3	+	2	1131	c.753C>A	c.(751-753)ggC>ggA	p.G251G		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	251					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G251G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTTATGAGGGCCCACTCACTC	0.502																																						ENST00000242994.3																			1	Substitution - coding silent(1)	p.G251G(1)	prostate(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(751-753)ggC>ggA		neuronal differentiation 4							102.0	100.0	101.0					12																	55420976		2203	4300	6503	SO:0001819	synonymous_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420976C>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.753C>A	12.37:g.55420976C>A							p.G251G	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	1131	+			251					B2RAC9	Silent	SNP	ENST00000242994.3	37	c.753C>A	CCDS8886.1																																																																																				0.502	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			23	159	1	0	9.95505e-16	1	1.13772e-15	23	159				
CLIC2	1193	broad.mit.edu	37	X	154528413	154528413	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:154528413G>C	ENST00000369449.2	-	2	321	c.103C>G	c.(103-105)Cgc>Ggc	p.R35G	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	35	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.R35G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGAAAAGGCGTTGGCAAAAG	0.363																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			2	Substitution - Missense(2)	p.R35G(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(103-105)Cgc>Ggc		chloride intracellular channel 2							131.0	120.0	124.0					X																	154528413		2203	4300	6503	SO:0001583	missense	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154528413G>C	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.103C>G	X.37:g.154528413G>C	ENSP00000358460:p.Arg35Gly					CLIC2_ENST00000465553.1_5'UTR	p.R35G	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			2	321	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		35			N-terminal.|Required for insertion into the membrane (By similarity).		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	37	c.103C>G	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619972	0.28801	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	T;T	0.57907	0.37;0.37	4.99	4.12	0.48240	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	H	0.95679	3.705	0.50467	D	0.999873	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83910	0.0295	10	0.87932	D	0	-7.1705	11.9069	0.52717	0.0:0.0:0.8247:0.1753	.	53;35	Q86YM0;O15247	.;CLIC2_HUMAN	G	35	ENSP00000358460:R35G;ENSP00000318558:R35G	ENSP00000318558:R35G	R	-	1	0	CLIC2	154181607	1.000000	0.71417	0.995000	0.50966	0.063000	0.16089	2.702000	0.47102	1.010000	0.39314	0.506000	0.49869	CGC		0.363	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		18	87	0	0	0	1	0	18	87				
WDFY1	57590	broad.mit.edu	37	2	224749392	224749392	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:224749392C>A	ENST00000233055.4	-	9	1008	c.906G>T	c.(904-906)tgG>tgT	p.W302C		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	302						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.W302C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTTGGTGTCCCACATCTGCT	0.463																																						ENST00000233055.4																			1	Substitution - Missense(1)	p.W302C(1)	prostate(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(904-906)tgG>tgT		WD repeat and FYVE domain containing 1							246.0	258.0	254.0					2																	224749392		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224749392C>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.906G>T	2.37:g.224749392C>A	ENSP00000233055:p.Trp302Cys						p.W302C	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	9	1008	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	302					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.906G>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535623	0.85812	.	.	ENSG00000085449	ENST00000233055	T	0.67865	-0.29	5.32	5.32	0.75619	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85227	0.1030	10	0.38643	T	0.18	-18.818	19.0334	0.92967	0.0:1.0:0.0:0.0	.	302	Q8IWB7	WDFY1_HUMAN	C	302	ENSP00000233055:W302C	ENSP00000233055:W302C	W	-	3	0	WDFY1	224457636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.494000	0.84150	0.650000	0.86243	TGG		0.463	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		5	366	1	0	0.014758	1	0.0155347	5	366				
SLC12A1	6557	broad.mit.edu	37	15	48580269	48580269	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:48580269C>T	ENST00000558405.1	+	21	2673	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y|SLC12A1_ENST00000396577.3_Missense_Mutation_p.H887Y			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	887					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.H887Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTCGATGCATGTGGGAGA	0.403																																						ENST00000396577.3																			1	Substitution - Missense(1)	p.H887Y(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2659-2661)Cat>Tat		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						63.0	58.0	60.0					15																	48580269		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48580269C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2659C>T	15.37:g.48580269C>T	ENSP00000453409:p.His887Tyr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y	p.H887Y	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	22	2874	+		all_lung(180;0.00219)	887					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2659C>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514205	0.85389	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.82344	-1.6;-1.6	6.17	6.17	0.99709	.	0.095726	0.64402	D	0.000001	T	0.69824	0.3154	N	0.08118	0	0.52501	D	0.999957	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.64744	-0.6335	10	0.11182	T	0.66	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	887;887	E9PDW4;Q13621	.;S12A1_HUMAN	Y	887	ENSP00000370381:H887Y;ENSP00000379822:H887Y	ENSP00000370381:H887Y	H	+	1	0	SLC12A1	46367561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.976000	0.76135	2.941000	0.99782	0.655000	0.94253	CAT		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			7	25	0	0	0	1	0	7	25				
AGMO	392636	broad.mit.edu	37	7	15458194	15458194	+	Missense_Mutation	SNP	T	T	C	rs146442781	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:15458194T>C	ENST00000342526.3	-	5	767	c.598A>G	c.(598-600)Atc>Gtc	p.I200V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	200					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.I200V(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTGTATGGATCCAAAATTGG	0.348																																						ENST00000342526.3																			1	Substitution - Missense(1)	p.I200V(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(598-600)Atc>Gtc		alkylglycerol monooxygenase							35.0	42.0	40.0					7																	15458194		2200	4287	6487	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15458194T>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.598A>G	7.37:g.15458194T>C	ENSP00000341662:p.Ile200Val						p.I200V	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			5	767	-			200					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.598A>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047454	0.75846	.	.	ENSG00000187546	ENST00000342526	D	0.83992	-1.79	5.8	5.8	0.92144	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	L	0.37697	1.125	0.54753	D	0.999983	P	0.46064	0.872	P	0.51777	0.679	T	0.77734	-0.2477	10	0.11182	T	0.66	-30.639	16.1416	0.81528	0.0:0.0:0.0:1.0	.	200	Q6ZNB7	ALKMO_HUMAN	V	200	ENSP00000341662:I200V	ENSP00000341662:I200V	I	-	1	0	AGMO	15424719	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.600000	0.67599	2.209000	0.71365	0.482000	0.46254	ATC		0.348	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		19	38	0	0	0	1	0	19	38				
FAM71B	153745	broad.mit.edu	37	5	156592755	156592755	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156592755A>G	ENST00000302938.4	-	1	520	c.425T>C	c.(424-426)cTg>cCg	p.L142P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	142						nucleus (GO:0005634)		p.L142P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGAGTTTCAGGCGCAGCTG	0.493																																						ENST00000302938.4																			1	Substitution - Missense(1)	p.L142P(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(424-426)cTg>cCg		family with sequence similarity 71, member B							88.0	93.0	91.0					5																	156592755		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592755A>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.425T>C	5.37:g.156592755A>G	ENSP00000305596:p.Leu142Pro						p.L142P	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	520	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	142					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.425T>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066706	0.36470	.	.	ENSG00000170613	ENST00000302938	T	0.27104	1.69	4.56	4.56	0.56223	.	0.144262	0.31519	N	0.007515	T	0.53706	0.1813	M	0.87900	2.915	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.61128	-0.7125	10	0.87932	D	0	-4.2095	10.8845	0.46960	1.0:0.0:0.0:0.0	.	142	Q8TC56	FA71B_HUMAN	P	142	ENSP00000305596:L142P	ENSP00000305596:L142P	L	-	2	0	FAM71B	156525333	0.994000	0.37717	0.972000	0.41901	0.084000	0.17831	4.730000	0.62015	1.999000	0.58509	0.533000	0.62120	CTG		0.493	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		3	109	0	0	0	1	0	3	109				
TBL1XR1	79718	broad.mit.edu	37	3	176768285	176768286	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:176768285_176768286insA	ENST00000430069.1	-	6	799_800	c.540_541insT	c.(538-543)gttagtfs	p.S181fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	181					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAGATCACTAACAGGGTTCC	0.361																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(538-543)gtgtgafs		transducin (beta)-like 1 X-linked receptor 1																																				SO:0001589	frameshift_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176768285_176768286insA	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.541dupT	3.37:g.176768287_176768287dupA	ENSP00000405574:p.Ser181fs					TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.*181fs	p.*181fs			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		6	799_800	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	181					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Frame_Shift_Ins	INS	ENST00000430069.1	37	c.540_541insT	CCDS46961.1																																																																																				0.361	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		15	64						15	64	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G	rs201480883		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		catgcgcaacaggggactgtaa	0.366																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690462_195690463insG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690466_195690466dupG								NR_003264.2						0	2203	-									RNA	INS	ENST00000427841.1	37																																																																																						0.366	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	5						3	5	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-423)gaa>ga		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	p.EE142del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	900_902	-			142			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		7	109						7	109	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173317315	173317316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:173317315_173317316insG	ENST00000265085.5	+	1	2033_2034	c.579_580insG	c.(580-582)gggfs	p.G194fs	CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	194					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCACCAGGGAGGGGTCCCTGC	0.505																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(577-582)gggggtfs		cytoplasmic polyadenylation element binding protein 4																																				SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173317315_173317316insG	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.583dupG	5.37:g.173317319_173317319dupG	ENSP00000265085:p.Gly194fs					CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.GG193fs	p.GG193fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2033_2034	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	193					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Ins	INS	ENST00000265085.5	37	c.579_580insG	CCDS4390.1																																																																																				0.505	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		15	157						15	157	---	---	---	---
MKRN1	23608	broad.mit.edu	37	7	140158897	140158897	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:140158897delG	ENST00000255977.2	-	4	905	c.681delC	c.(679-681)aacfs	p.N227fs	MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000481705.1_5'Flank	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	227					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GATACACACAGTTCTCCCCGT	0.522																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(679-681)aafs		makorin ring finger protein 1							134.0	129.0	131.0					7																	140158897		2203	4300	6503	SO:0001589	frameshift_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158897delG	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.681delC	7.37:g.140158897delG	ENSP00000255977:p.Asn227fs					MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000437223.2_Intron	p.N227fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	905	-	Melanoma(164;0.00956)		227					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Frame_Shift_Del	DEL	ENST00000255977.2	37	c.681delC	CCDS5860.1																																																																																				0.522	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		19	233						19	233	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89385933	89385937	+	RNA	DEL	TATTT	TATTT	-	rs10524729|rs533813795	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:89385933_89385937delTATTT	ENST00000532352.1	+	0	402							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATATTGATTATATTTTATTAATGGT	0.293														1040	0.207668	0.1346	0.2277	5008	,	,		15695	0.0873		0.3668	False		,,,				2504	0.2526					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89385933_89385937delTATTT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89385933_89385937delTATTT										Q9HBA9	FOH1B_HUMAN			0	402	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.293	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	4						3	4	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32126912	32126912	+	IGR	DEL	A	A	-	rs371297979		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:32126912delA								RP11-1166P10.6 (30806 upstream) : HERC2P4 (54392 downstream)																							TATTTTGCCCACCCGCCGCCG	0.602																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32126912delA																													16.37:g.32126912delA														0	456	-									RNA	DEL		37																																																																																					0	0.602									5	7						5	7	---	---	---	---
NPIPB1P	729602	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621									nuclear pore complex interacting protein family, member B1, pseudogene																		CTCTTCCCCCGAAAAATGACAA	0.401													aaaaaa|AAAAA|AAAAAA|deletion	3507	0.70028	0.3805	0.8501	5008	,	,		12701	0.8056		0.7843	False		,,,				2504	0.8313					ENST00000547442.1																			0																																																			0							g.chr18:11625378_11625379insA			18p11.21	2013-06-11			ENSG00000257513	ENSG00000257513			37452	pseudogene	pseudogene							Standard	NG_023368		Approved				OTTHUMG00000170512		18.37:g.11625383_11625383dupA														0	621	-									RNA	INS	ENST00000547442.1	37																																																																																						0.401	NPIPB1P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000409451.1	NG_023368		4	3						4	3	---	---	---	---
DYNLRB1	83658	broad.mit.edu	37	20	33122618	33122618	+	Intron	DEL	C	C	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:33122618delC	ENST00000357156.2	+	3	297				DYNLRB1_ENST00000417166.2_Frame_Shift_Del_p.S89fs|DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						TCTTCTACCTCCCCATGTAGG	0.532																																						ENST00000417166.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(265-267)tcfs		dynein, light chain, roadblock-type 1							59.0	51.0	53.0					20																	33122618		2203	4300	6503	SO:0001627	intron_variant	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122618delC	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.247+19C>-	20.37:g.33122618delC						DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron|DYNLRB1_ENST00000357156.2_Intron	p.S89fs			Q9NP97	DLRB1_HUMAN			3	299	+			0					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Frame_Shift_Del	DEL	ENST00000357156.2	37	c.266delC	CCDS13235.1																																																																																				0.532	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		7	51						7	51	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22658654	22658655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:22658654_22658655insT	ENST00000400546.1	+	4	652_653	c.403_404insT	c.(403-405)gttfs	p.V135fs	NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	135	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCAGAAGTGGTTTGCCGAGTT	0.401																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(403-405)ttgfs		neural cell adhesion molecule 2																																				SO:0001589	frameshift_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658654_22658655insT		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.406dupT	21.37:g.22658657_22658657dupT	ENSP00000383392:p.Val135fs					NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.L160fs|NCAM2_ENST00000284894.7_Intron	p.L135fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	652_653	+		Lung NSC(9;0.195)	135			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Ins	INS	ENST00000400546.1	37	c.403_404insT	CCDS42910.1																																																																																				0.401	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		25	87						25	87	---	---	---	---
