#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
CDK5R2	8941	broad.mit.edu	37	2	219825271	219825271	+	Silent	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:219825271C>T	ENST00000302625.4	+	1	895	c.729C>T	c.(727-729)tgC>tgT	p.C243C	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	243					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGCTGTGCCGCGAGTCGC	0.662																																						ENST00000302625.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(727-729)tgC>tgT		cyclin-dependent kinase 5, regulatory subunit 2 (p39)							93.0	94.0	94.0					2																	219825271		2203	4300	6503	SO:0001819	synonymous_variant	8941				regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity	g.chr2:219825271C>T	U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.729C>T	2.37:g.219825271C>T						AC097468.7_ENST00000429343.1_RNA	p.C243C	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	895	+		Renal(207;0.0474)	243					Q4ZFW6	Silent	SNP	ENST00000302625.4	37	c.729C>T	CCDS2427.1																																																																																				0.662	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936		5	227	0	0	0	1	0	5	227				
CDH7	1005	broad.mit.edu	37	18	63477082	63477082	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr18:63477082A>G	ENST00000397968.2	+	3	779	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	CDH7_ENST00000323011.3_Missense_Mutation_p.Y118C|CDH7_ENST00000536984.2_Missense_Mutation_p.Y118C	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGCCTACTACACGCTCCGA	0.502																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(352-354)tAc>tGc		cadherin 7, type 2							77.0	71.0	73.0					18																	63477082		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477082A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.353A>G	18.37:g.63477082A>G	ENSP00000381058:p.Tyr118Cys					CDH7_ENST00000397968.2_Missense_Mutation_p.Y118C|CDH7_ENST00000323011.3_Missense_Mutation_p.Y118C	p.Y118C			Q9ULB5	CADH7_HUMAN			3	1047	+		Esophageal squamous(42;0.129)	118			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.353A>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251614	0.80135	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.69561	-0.41;-0.41;-0.41	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.066319	0.64402	D	0.000009	D	0.89181	0.6642	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93310	0.6684	10	0.87932	D	0	.	16.2193	0.82247	1.0:0.0:0.0:0.0	.	118;118	F5H5X9;Q9ULB5	.;CADH7_HUMAN	C	118	ENSP00000319166:Y118C;ENSP00000443030:Y118C;ENSP00000381058:Y118C	ENSP00000319166:Y118C	Y	+	2	0	CDH7	61628062	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	8.874000	0.92363	2.234000	0.73211	0.528000	0.53228	TAC		0.502	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		3	73	0	0	0	1	0	3	73				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	0							g.chr20:29625947T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	104	0	0	0	1	0	5	104				
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|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)|fatty acid transport (GO:0015908)|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)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AGTTGAGTCCGCATGCCAATG	0.507																																						ENST00000245206.5																			3	Substitution - Missense(3)	p.R355W(2)|p.R355G(1)	prostate(1)|lung(1)|endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(1063-1065)Cgg>Tgg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						222.0	211.0	215.0					16																	58743428		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743428G>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1063C>T	16.37:g.58743428G>A	ENSP00000245206:p.Arg355Trp					GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	p.R355W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			9	1191	-			355					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1063C>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418094	0.62622	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.34275	1.37;1.37	5.31	0.557	0.17260	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.85130	0.874;0.997	T	0.76583	-0.2906	9	.	.	.	-0.235	9.3835	0.38329	0.0714:0.0:0.526:0.4025	.	312;355	E7ERW2;P00505	.;AATM_HUMAN	W	355;312	ENSP00000245206:R355W;ENSP00000394100:R312W	.	R	-	1	2	GOT2	57300929	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	1.345000	0.33953	0.584000	0.29591	-0.128000	0.14901	CGG		0.507	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			5	324	0	0	0	1	0	5	324				
OBSCN	84033	broad.mit.edu	37	1	228466419	228466419	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:228466419C>T	ENST00000422127.1	+	26	6933	c.6889C>T	c.(6889-6891)Cgg>Tgg	p.R2297W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R2726W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2297W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1144W|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2297	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCCCGCTGCGGGACAAGAT	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8176-8178)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							43.0	50.0	47.0					1																	228466419		2112	4224	6336	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466419C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6889C>T	1.37:g.228466419C>T	ENSP00000409493:p.Arg2297Trp					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1144W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2297W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2297W|OBSCN_ENST00000366709.4_5'UTR	p.R2726W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			31	8250	+		Prostate(94;0.0405)	1724			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8176C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425606	0.43020	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69040	-0.37;-0.37;-0.37	3.92	0.395	0.16304	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000011	D	0.82719	0.5098	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.957;0.997	D	0.85372	0.1114	10	0.66056	D	0.02	.	13.5531	0.61745	0.4033:0.5967:0.0:0.0	.	2297;2297	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	2297;2297;1144	ENSP00000284548:R2297W;ENSP00000409493:R2297W;ENSP00000352613:R1144W	ENSP00000284548:R2297W	R	+	1	2	OBSCN	226533042	0.925000	0.31364	0.938000	0.37757	0.627000	0.37826	0.052000	0.14163	0.296000	0.22592	0.289000	0.19496	CGG		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	79	0	0	0	1	0	5	79				
GATB	5188	broad.mit.edu	37	4	152592397	152592397	+	Missense_Mutation	SNP	G	G	A	rs377007052		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr4:152592397G>A	ENST00000515812.1	-	12	1496	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	RP11-164P12.4_ENST00000508664.1_RNA|PET112_ENST00000263985.6_Missense_Mutation_p.R535W|PET112_ENST00000507592.1_5'UTR																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GTCGCTTTCCGGACCAACCCA	0.448																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1603-1605)Cgg>Tgg		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	TRP/ARG	0,4406		0,0,2203	134.0	130.0	131.0		1603	5.0	1.0	4		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	PET112	NM_004564.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	535/558	152592397	1,13005	2203	4300	6503	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152592397G>A																												ENST00000515812.1:c.1480C>T	4.37:g.152592397G>A	ENSP00000426859:p.Arg494Trp					PET112_ENST00000515812.1_Missense_Mutation_p.R494W|PET112_ENST00000507592.1_5'UTR	p.R535W	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			13	1643	-			535						Missense_Mutation	SNP	ENST00000515812.1	37	c.1603C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.097204	0.76870	0.0	1.16E-4	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.43688	0.94;0.95	5.8	4.96	0.65561	Asn/Gln amidotransferase (2);	0.146950	0.48286	D	0.000191	T	0.55673	0.1935	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	P	0.57846	0.828	T	0.60198	-0.7310	10	0.87932	D	0	-14.4399	12.7111	0.57089	0.0771:0.0:0.9229:0.0	.	535	O75879	GATB_HUMAN	W	535;494	ENSP00000263985:R535W;ENSP00000426859:R494W	ENSP00000263985:R535W	R	-	1	2	PET112	152811847	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	4.242000	0.58714	1.436000	0.47453	0.655000	0.94253	CGG		0.448	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			7	120	0	0	0	1	0	7	120				
RNF135	84282	broad.mit.edu	37	17	29325769	29325769	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr17:29325769C>T	ENST00000328381.5	+	5	1732	c.859C>T	c.(859-861)Cca>Tca	p.P287S	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	287	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GTCTCACCGCCCACAACCCTA	0.522																																						ENST00000328381.5																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(859-861)Cca>Tca		ring finger protein 135							86.0	82.0	83.0					17																	29325769		2203	4300	6503	SO:0001583	missense	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325769C>T	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.859C>T	17.37:g.29325769C>T	ENSP00000328340:p.Pro287Ser					RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	p.P287S	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN			5	1732	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	287			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	c.859C>T	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	C	4.826	0.153543	0.09185	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.61158	0.13	5.11	-1.09	0.09904	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	1.451260	0.04455	N	0.373317	T	0.42787	0.1218	L	0.41079	1.255	0.09310	N	1	B	0.26120	0.142	B	0.24701	0.055	T	0.11867	-1.0570	10	0.15066	T	0.55	2.5694	3.564	0.07893	0.3948:0.3396:0.0:0.2656	.	287	Q8IUD6	RN135_HUMAN	S	287;106	ENSP00000328340:P287S	ENSP00000328340:P287S	P	+	1	0	RNF135	26349895	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.728000	0.26013	-0.013000	0.14199	0.655000	0.94253	CCA		0.522	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		6	87	0	0	0	1	0	6	87				
MRPS10	55173	broad.mit.edu	37	6	42176031	42176031	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:42176031G>A	ENST00000053468.3	-	7	617	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	201						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			GAGGCTTTATGACTTGCTTTC	0.393																																						ENST00000053468.3																			0				endometrium(1)|lung(1)	2						c.(601-603)tCa>tTa		mitochondrial ribosomal protein S10							269.0	270.0	269.0					6																	42176031		2203	4300	6503	SO:0001583	missense	55173				translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	g.chr6:42176031G>A		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.602C>T	6.37:g.42176031G>A	ENSP00000053468:p.Ser201Leu						p.S201L	NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)		7	617	-	Colorectal(47;0.196)		201					B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	c.602C>T	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426262	0.25726	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.89	4.08	0.47627	.	0.740084	0.12873	N	0.432101	T	0.27489	0.0675	M	0.63428	1.95	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.38090	-0.9677	9	0.87932	D	0	.	10.8085	0.46531	0.072:0.1318:0.7962:0.0	.	201	P82664	RT10_HUMAN	L	201	.	ENSP00000053468:S201L	S	-	2	0	MRPS10	42284009	0.407000	0.25352	0.071000	0.20095	0.060000	0.15804	4.102000	0.57776	0.800000	0.34041	0.563000	0.77884	TCA		0.393	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			10	324	0	0	0	1	0	10	324				
PRKD1	5587	broad.mit.edu	37	14	30100144	30100144	+	Silent	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr14:30100144G>A	ENST00000331968.5	-	10	1705	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	PRKD1_ENST00000415220.2_Silent_p.F500F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	492	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TAGTGATTTCGAAACAATGAG	0.398																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1474-1476)ttC>ttT		protein kinase D1							130.0	121.0	124.0					14																	30100144		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100144G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1476C>T	14.37:g.30100144G>A						PRKD1_ENST00000415220.2_Silent_p.F500F	p.F492F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1705	-	Hepatocellular(127;0.0604)		492			PH.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1476C>T	CCDS9637.1																																																																																				0.398	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		6	88	0	0	0	1	0	6	88				
PCDHA7	56141	broad.mit.edu	37	5	140215658	140215658	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr5:140215658G>T	ENST00000525929.1	+	1	1690	c.1690G>T	c.(1690-1692)Gca>Tca	p.A564S	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A564S|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	564	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGCTGGC	0.687																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1690-1692)Gca>Tca									83.0	90.0	88.0					5																	140215658		2203	4298	6501	SO:0001583	missense	0							g.chr5:140215658G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1690G>T	5.37:g.140215658G>T	ENSP00000436426:p.Ala564Ser					PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A564S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.A564S	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1690	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1690G>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	3.019	-0.202120	0.06219	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.37915	1.17;1.17	3.91	0.891	0.19224	Cadherin (3);Cadherin-like (1);	7.921720	0.02726	U	0.114513	T	0.26340	0.0643	N	0.21508	0.67	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.26416	0.069;0.005	T	0.18366	-1.0339	10	0.39692	T	0.17	.	2.9913	0.05983	0.1509:0.1454:0.5551:0.1486	.	564;564	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	S	564	ENSP00000436426:A564S;ENSP00000367365:A564S	ENSP00000367365:A564S	A	+	1	0	PCDHA7	140195842	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-1.640000	0.02009	-0.074000	0.12820	0.313000	0.20887	GCA		0.687	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		19	184	1	0	1.56452e-12	1	1.56452e-12	19	184				
FSCN3	29999	broad.mit.edu	37	7	127235472	127235472	+	Missense_Mutation	SNP	C	C	T	rs146886586		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:127235472C>T	ENST00000265825.5	+	2	475	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	86						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTTATGGCCGCCCAAGGAC	0.562																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(256-258)Cgc>Tgc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	132.0	108.0	117.0		256	2.6	0.3	7	dbSNP_134	117	0,8600		0,0,4300	no	missense	FSCN3	NM_020369.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	86/499	127235472	2,13004	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235472C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.256C>T	7.37:g.127235472C>T	ENSP00000265825:p.Arg86Cys					FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	p.R86C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	475	+			86					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.256C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	8.469	0.857118	0.17106	4.54E-4	0.0	ENSG00000106328	ENST00000265825	T	0.23754	1.89	5.59	2.62	0.31277	Fascin domain (1);Actin cross-linking (1);	0.505616	0.18064	N	0.152849	T	0.18002	0.0432	L	0.38838	1.175	0.19775	N	0.999955	B	0.17465	0.022	B	0.10450	0.005	T	0.15867	-1.0422	10	0.41790	T	0.15	-5.7056	6.6654	0.23037	0.3283:0.5845:0.0:0.0872	.	86	Q9NQT6	FSCN3_HUMAN	C	86	ENSP00000265825:R86C	ENSP00000265825:R86C	R	+	1	0	FSCN3	127022708	0.077000	0.21312	0.268000	0.24571	0.345000	0.29048	0.179000	0.16840	0.750000	0.32877	0.655000	0.94253	CGC		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		8	72	0	0	0	1	0	8	72				
R3HDM1	23518	broad.mit.edu	37	2	136481598	136481598	+	Silent	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:136481598C>T	ENST00000264160.4	+	26	3406	c.3036C>T	c.(3034-3036)ggC>ggT	p.G1012G	R3HDM1_ENST00000410054.1_Silent_p.G957G|R3HDM1_ENST00000409478.1_Silent_p.G884G|R3HDM1_ENST00000409606.1_Silent_p.G1013G|R3HDM1_ENST00000329971.3_Silent_p.G883G	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1012							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTAAAATTGGCGCCAAGATCC	0.517																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(3034-3036)ggC>ggT		R3H domain containing 1							65.0	75.0	72.0					2																	136481598		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136481598C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.3036C>T	2.37:g.136481598C>T						R3HDM1_ENST00000410054.1_Silent_p.G957G|R3HDM1_ENST00000409606.1_Silent_p.G1013G|R3HDM1_ENST00000329971.3_Silent_p.G883G|R3HDM1_ENST00000409478.1_Silent_p.G884G	p.G1012G	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	26	3406	+			1012					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.3036C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	5.379	0.255103	0.10185	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.5	0.432	0.16529	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22941	-1.0202	4	.	.	.	-10.0543	1.8292	0.03127	0.1307:0.3577:0.1285:0.3832	.	.	.	.	C	736	.	.	R	+	1	0	R3HDM1	136198068	0.986000	0.35501	0.999000	0.59377	0.992000	0.81027	0.196000	0.17176	0.087000	0.17167	-0.265000	0.10407	CGC		0.517	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		4	110	0	0	0	1	0	4	110				
OR8K1	390157	broad.mit.edu	37	11	56113902	56113902	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr11:56113902G>A	ENST00000279783.2	+	1	482	c.388G>A	c.(388-390)Gta>Ata	p.V130I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V130I(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGATCGCTACGTAGCCATCTG	0.413										HNSCC(65;0.19)																												ENST00000279783.2																			1	Substitution - Missense(1)	p.V130I(1)	upper_aerodigestive_tract(1)	large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(388-390)Gta>Ata		olfactory receptor, family 8, subfamily K, member 1							214.0	211.0	212.0					11																	56113902		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113902G>A	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.388G>A	11.37:g.56113902G>A	ENSP00000279783:p.Val130Ile	HNSCC(65;0.19)					p.V130I	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	482	+	Esophageal squamous(21;0.00448)		130					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.388G>A	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211399	0.79240	.	.	ENSG00000150261	ENST00000279783	T	0.00397	7.57	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000342	T	0.00468	0.0015	M	0.62209	1.925	0.35452	D	0.79574	D	0.61697	0.99	P	0.49752	0.621	T	0.74074	-0.3782	10	0.66056	D	0.02	-14.0461	9.3781	0.38295	0.0787:0.1443:0.777:0.0	.	130	Q8NGG5	OR8K1_HUMAN	I	130	ENSP00000279783:V130I	ENSP00000279783:V130I	V	+	1	0	OR8K1	55870478	0.993000	0.37304	0.911000	0.35937	0.974000	0.67602	2.417000	0.44653	2.297000	0.77311	0.549000	0.68633	GTA		0.413	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		10	196	0	0	0	1	0	10	196				
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																						ENST00000579062.1																			1	Substitution - Missense(1)	p.R183Q(1)	endometrium(1)																																																0							g.chr17:16734855C>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T														0	460	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		3	47	0	0	0	1	0	3	47				
IGLV2-8	28817	broad.mit.edu	37	22	23165593	23165593	+	RNA	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr22:23165593C>T	ENST00000390317.2	+	0	326				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		AACTATGTCTCCTGGTACCAA	0.572																																						ENST00000390317.2																			0																				225.0	227.0	226.0					22																	23165593		1957	4131	6088			0							g.chr22:23165593C>T	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165593C>T														0	326	+									RNA	SNP	ENST00000390317.2	37																																																																																						0.572	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		5	433	0	0	0	1	0	5	433				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	73	0	0	0	1	0	4	73				
TIAM2	26230	broad.mit.edu	37	6	155561701	155561701	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:155561701A>T	ENST00000461783.3	+	18	4479	c.3206A>T	c.(3205-3207)aAc>aTc	p.N1069I	TIAM2_ENST00000367174.2_Missense_Mutation_p.N445I|TIAM2_ENST00000275246.7_De_novo_Start_OutOfFrame|TIAM2_ENST00000456877.2_Missense_Mutation_p.N381I|TIAM2_ENST00000529824.2_Missense_Mutation_p.N1069I|TIAM2_ENST00000456144.1_Missense_Mutation_p.N1069I|TIAM2_ENST00000360366.4_Missense_Mutation_p.N1093I|TIAM2_ENST00000528391.2_Missense_Mutation_p.N405I|TIAM2_ENST00000318981.5_Missense_Mutation_p.N1069I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1069					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGAGTTTTAACGACAGTCAG	0.582																																						ENST00000275246.7																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65								T-cell lymphoma invasion and metastasis 2							79.0	71.0	74.0					6																	155561701		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155561701A>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3206A>T	6.37:g.155561701A>T	ENSP00000437188:p.Asn1069Ile					TIAM2_ENST00000318981.5_Missense_Mutation_p.N1069I|TIAM2_ENST00000456144.1_Missense_Mutation_p.N1069I|TIAM2_ENST00000461783.3_Missense_Mutation_p.N1069I|TIAM2_ENST00000528391.2_Missense_Mutation_p.N405I|TIAM2_ENST00000367174.2_Missense_Mutation_p.N445I|TIAM2_ENST00000360366.4_Missense_Mutation_p.N1093I|TIAM2_ENST00000529824.2_Missense_Mutation_p.N1069I|TIAM2_ENST00000456877.2_Missense_Mutation_p.N381I		NM_001010927.2	NP_001010927.1	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	0	492	+		Ovarian(120;0.196)						B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Translation_Start_Site	SNP	ENST00000461783.3	37		CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414430	0.42817	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000462408	T;T;T;T;T;T;T;T;T;T	0.18657	3.6;3.49;3.56;3.6;3.43;3.6;3.56;3.43;3.43;2.2	5.22	-4.21	0.03812	.	1.217390	0.05461	N	0.551316	T	0.05547	0.0146	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;B	0.26002	0.005;0.139;0.06;0.086	B;B;B;B	0.24155	0.003;0.051;0.051;0.023	T	0.43393	-0.9394	10	0.54805	T	0.06	.	11.7281	0.51720	0.2712:0.657:0.0717:0.0	.	405;1069;1093;1069	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	I	1069;1315;1069;1069;1069;445;1093;1069;381;405;7	ENSP00000437188:N1069I;ENSP00000434901:N1069I;ENSP00000407746:N1069I;ENSP00000327315:N1069I;ENSP00000356142:N445I;ENSP00000353528:N1093I;ENSP00000433348:N1069I;ENSP00000407183:N381I;ENSP00000435335:N405I;ENSP00000431269:N7I	ENSP00000327315:N1069I	N	+	2	0	TIAM2	155603393	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	0.029000	0.13666	-0.613000	0.05694	-0.655000	0.03904	AAC		0.582	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	53	0	0	0	1	0	5	53				
EGR3	1960	broad.mit.edu	37	8	22548994	22548994	+	Splice_Site	SNP	C	C	G			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr8:22548994C>G	ENST00000317216.2	-	2	513	c.156G>C	c.(154-156)gaG>gaC	p.E52D	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Splice_Site_p.E14D|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_Splice_Site_p.R70T	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	52					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCATTACATTCTCTGCGGAGA	0.667																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e2-1		early growth response 3							43.0	50.0	47.0					8																	22548994		2202	4297	6499	SO:0001630	splice_region_variant	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548994C>G	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.155-1G>C	8.37:g.22548994C>G						EGR3_ENST00000519492.1_Splice_Site_p.R70_splice|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Splice_Site_p.E14_splice	p.E52_splice	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	513	-		Prostate(55;0.0421)|Breast(100;0.102)	52					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Splice_Site	SNP	ENST00000317216.2	37	c.154_splice	CCDS6033.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.135|1.135	-0.651377|-0.651377	0.03506|0.03506	.|.	.|.	ENSG00000179388|ENSG00000179388	ENST00000317216;ENST00000522910|ENST00000519492	T;T|.	0.05382|.	3.77;3.45|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.063349|.	0.64402|.	D|.	0.000007|.	T|T	0.11067|0.11067	0.0270|0.0270	N|N	0.00399|0.00399	-1.545|-1.545	0.25514|0.25514	N|N	0.987431|0.987431	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.11916|0.11916	-1.0568|-1.0568	10|6	0.02654|0.87932	T|D	1|0	.|.	11.7089|11.7089	0.51614|0.51614	0.1765:0.8235:0.0:0.0|0.1765:0.8235:0.0:0.0	.|.	14;52|.	E7EW38;Q06889|.	.;EGR3_HUMAN|.	D|T	52;14|70	ENSP00000318057:E52D;ENSP00000430310:E14D|.	ENSP00000318057:E52D|ENSP00000429370:R70T	E|R	-|-	3|2	2|0	EGR3|EGR3	22604939|22604939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.845000|0.845000	0.27668|0.27668	2.517000|2.517000	0.84864|0.84864	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.667	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430	Missense_Mutation	5	103	0	0	0	1	0	5	103				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	25	0	0	0	1	0	5	25				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	52	0	0	0	1	0	4	52				
KIF3C	3797	broad.mit.edu	37	2	26203359	26203359	+	Silent	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:26203359C>T	ENST00000264712.3	-	1	2007	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	KIF3C_ENST00000405914.1_Silent_p.Q476Q	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	476					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGTCATCCTGGATGGCTG	0.617																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1426-1428)caG>caA		kinesin family member 3C							76.0	76.0	76.0					2																	26203359		2203	4300	6503	SO:0001819	synonymous_variant	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203359C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1428G>A	2.37:g.26203359C>T						KIF3C_ENST00000405914.1_Silent_p.Q476Q	p.Q476Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	2007	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		476					O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	c.1428G>A	CCDS1719.1																																																																																				0.617	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			6	123	0	0	0	1	0	6	123				
KLHDC7A	127707	broad.mit.edu	37	1	18807930	18807930	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:18807930A>G	ENST00000400664.1	+	1	507	c.455A>G	c.(454-456)aAc>aGc	p.N152S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	152						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCAGTAACCCTGACCCT	0.647																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(454-456)aAc>aGc		kelch domain containing 7A							32.0	39.0	37.0					1																	18807930		2075	4211	6286	SO:0001583	missense	127707					integral to membrane		g.chr1:18807930A>G	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.455A>G	1.37:g.18807930A>G	ENSP00000383505:p.Asn152Ser						p.N152S	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	507	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	152					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.455A>G	CCDS185.2	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644687	0.29246	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.71934	-0.61	5.33	5.33	0.75918	.	0.644262	0.12274	U	0.483562	T	0.49626	0.1568	N	0.08118	0	0.09310	N	0.999992	B	0.21381	0.055	B	0.16722	0.016	T	0.33727	-0.9857	10	0.31617	T	0.26	.	8.9826	0.35974	0.8351:0.0:0.0:0.1649	.	152	Q5VTJ3	KLD7A_HUMAN	S	152;89	ENSP00000383505:N152S	ENSP00000383505:N152S	N	+	2	0	KLHDC7A	18680517	0.017000	0.18338	0.880000	0.34516	0.201000	0.24016	1.856000	0.39389	2.136000	0.66102	0.482000	0.46254	AAC		0.647	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		4	71	0	0	0	1	0	4	71				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	25	0	0	0	1	0	5	25				
MDM1	56890	broad.mit.edu	37	12	68710032	68710032	+	Splice_Site	SNP	A	A	G			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr12:68710032A>G	ENST00000303145.7	-	8	1093	c.1007T>C	c.(1006-1008)gTt>gCt	p.V336A	MDM1_ENST00000411698.2_Splice_Site_p.V301A|MDM1_ENST00000540418.1_Splice_Site_p.V56A	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	336					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGTTCTTTAACCTATTCAGG	0.403																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.e8-1		Mdm1 nuclear protein homolog (mouse)							64.0	63.0	63.0					12																	68710032		2203	4299	6502	SO:0001630	splice_region_variant	56890					nucleus		g.chr12:68710032A>G	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1006-1T>C	12.37:g.68710032A>G						MDM1_ENST00000540418.1_Splice_Site_p.V56_splice|MDM1_ENST00000411698.2_Splice_Site_p.V301_splice	p.V336_splice	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	8	1093	-			336					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Splice_Site	SNP	ENST00000303145.7	37	c.1005_splice	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721259	0.68959	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.48836	0.8;0.8;0.8	5.77	4.61	0.57282	.	0.061993	0.64402	D	0.000005	T	0.68026	0.2956	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.99;0.997	T	0.69800	-0.5047	9	.	.	.	-17.5706	13.3137	0.60394	0.8679:0.1321:0.0:0.0	.	301;336	E7EPQ3;Q8TC05	.;MDM1_HUMAN	A	56;336;301	ENSP00000443815:V56A;ENSP00000302537:V336A;ENSP00000391006:V301A	.	V	-	2	0	MDM1	66996299	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.122000	0.77169	1.104000	0.41587	0.528000	0.53228	GTT		0.403	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	Missense_Mutation	3	36	0	0	0	1	0	3	36				
ERMARD	55780	broad.mit.edu	37	6	170162587	170162587	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:170162587C>T	ENST00000366773.3	+	9	953	c.920C>T	c.(919-921)gCc>gTc	p.A307V	ERMARD_ENST00000392095.4_Missense_Mutation_p.A181V|ERMARD_ENST00000588451.1_Missense_Mutation_p.A181V|ERMARD_ENST00000366772.2_Missense_Mutation_p.A307V|ERMARD_ENST00000418781.3_Missense_Mutation_p.A307V	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	307					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AATGTTTTTGCCACACTTAAC	0.383																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(541-543)gCc>gTc									151.0	143.0	146.0					6																	170162587		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170162587C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.920C>T	6.37:g.170162587C>T	ENSP00000355735:p.Ala307Val					C6orf70_ENST00000418781.3_Missense_Mutation_p.A307V|C6orf70_ENST00000366772.2_Missense_Mutation_p.A307V|C6orf70_ENST00000392095.4_Missense_Mutation_p.A181V|C6orf70_ENST00000366773.3_Missense_Mutation_p.A307V	p.A181V			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	9	1055	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	307					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.542C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206720	0.39003	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.50813	0.76;0.73	5.08	4.21	0.49690	.	0.289980	0.24717	N	0.036166	T	0.48909	0.1526	L	0.48362	1.52	0.28415	N	0.91801	D;D;B	0.89917	0.998;1.0;0.451	D;D;B	0.85130	0.994;0.997;0.137	T	0.36432	-0.9748	10	0.59425	D	0.04	.	11.8739	0.52536	0.0:0.9136:0.0:0.0864	.	307;307;307	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	V	307;307;307;181	ENSP00000355735:A307V;ENSP00000375945:A181V	ENSP00000355734:A307V	A	+	2	0	C6orf70	169904512	0.781000	0.28676	0.108000	0.21378	0.017000	0.09413	2.252000	0.43196	2.355000	0.79922	0.655000	0.94253	GCC		0.383	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		4	134	0	0	0	1	0	4	134				
ZNF783	100289678	broad.mit.edu	37	7	148979001	148979001	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:148979001G>A	ENST00000434415.1	+	6	1371	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GTGGTACCCGGCCCTGTCATC	0.746																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(1207-1209)gGc>gAc		zinc finger family member 783							6.0	9.0	8.0					7																	148979001		1736	3729	5465	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148979001G>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1208G>A	7.37:g.148979001G>A	ENSP00000410890:p.Gly403Asp					ZNF783_ENST00000489518.1_Intron	p.G403D	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1371	+	Melanoma(164;0.15)		403					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.1208G>A	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	7.477	0.647895	0.14516	.	.	ENSG00000204946	ENST00000434415	T	0.06294	3.32	4.53	4.53	0.55603	.	.	.	.	.	T	0.15912	0.0383	M	0.71036	2.16	0.18873	N	0.999987	.	.	.	.	.	.	T	0.03296	-1.1051	7	0.72032	D	0.01	.	10.6136	0.45436	0.0:0.1951:0.8049:0.0	.	.	.	.	D	403	ENSP00000410890:G403D	ENSP00000410890:G403D	G	+	2	0	ZNF783	148609934	.	.	0.354000	0.25760	0.406000	0.30931	.	.	2.366000	0.80165	0.462000	0.41574	GGC		0.746	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		3	18	0	0	0	1	0	3	18				
KLK8	11202	broad.mit.edu	37	19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	rs56296296	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000598195.1_5'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542																																						ENST00000600767.1																			1	Substitution - Missense(1)	p.V286I(1)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(721-723)Gtc>Atc		kallikrein-related peptidase 8		C	ILE/VAL,ILE/VAL,ILE/VAL,	1,4405	2.1+/-5.4	0,1,2202	174.0	161.0	165.0		721,856,298,	3.6	0.9	19	dbSNP_129	165	0,8600		0,0,4300	no	missense,missense,missense,utr-3	KLK8	NM_007196.2,NM_144505.1,NM_144506.1,NM_144507.1	29,29,29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	241/261,286/306,100/120,	51499377	1,13005	2203	4300	6503	SO:0001583	missense	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51499377C>T	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.721G>A	19.37:g.51499377C>T	ENSP00000472016:p.Val241Ile					KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|CTB-147C22.9_ENST00000594512.1_RNA	p.V241I			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	7	1210	-		all_neural(266;0.026)	241			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	c.721G>A	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602044	0.46423	2.27E-4	0.0	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.90732	-2.72;-2.72;-2.72	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001253	D	0.92331	0.7567	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.968;0.997	D	0.90875	0.4749	10	0.48119	T	0.1	.	7.4155	0.27042	0.0:0.8058:0.0:0.1942	rs56296296	100;241;286	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	I	286;241;100	ENSP00000375682:V286I;ENSP00000291726:V241I;ENSP00000341555:V100I	ENSP00000291726:V241I	V	-	1	0	KLK8	56191189	0.998000	0.40836	0.855000	0.33649	0.063000	0.16089	3.907000	0.56348	1.308000	0.44962	0.563000	0.77884	GTC		0.542	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		4	174	0	0	0	1	0	4	174				
PRRC2B	84726	broad.mit.edu	37	9	134366823	134366823	+	Silent	SNP	A	A	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr9:134366823A>T	ENST00000357304.4	+	28	6292	c.6237A>T	c.(6235-6237)ccA>ccT	p.P2079P	PRRC2B_ENST00000372249.1_Silent_p.P176P|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000458550.1_Silent_p.P1385P|PRRC2B_ENST00000405995.1_Silent_p.P1385P|PRRC2B_ENST00000465931.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2079							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGACCATGCCACTGCCTCGGT	0.612																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(6235-6237)ccA>ccT		proline-rich coiled-coil 2B							46.0	54.0	52.0					9																	134366823		2099	4217	6316	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134366823A>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6237A>T	9.37:g.134366823A>T						PRRC2B_ENST00000458550.1_Silent_p.P1385P|PRRC2B_ENST00000405995.1_Silent_p.P1385P|PRRC2B_ENST00000372249.1_Silent_p.P176P|PRRC2B_ENST00000465931.1_3'UTR	p.P2079P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			28	6292	+			2079					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.6237A>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319804	0.23994	.	.	ENSG00000130723	ENST00000320547	.	.	.	5.45	-5.55	0.02536	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44590	-0.9318	4	.	.	.	-17.6988	5.9408	0.19192	0.116:0.1436:0.5427:0.1976	.	.	.	.	S	86	.	.	T	+	1	0	PRRC2B	133356644	1.000000	0.71417	0.879000	0.34478	0.922000	0.55478	0.216000	0.17585	-1.419000	0.02012	0.454000	0.30748	ACT		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	105	0	0	0	1	0	12	105				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	36	0	0	0	1	0	5	36				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	52	0	0	0	1	0	4	52				
HM13	81502	broad.mit.edu	37	20	30115327	30115327	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr20:30115327C>T	ENST00000340852.5	+	2	348	c.224C>T	c.(223-225)gCc>gTc	p.A75V	HM13_ENST00000398174.3_Missense_Mutation_p.A75V|HM13_ENST00000335574.5_Missense_Mutation_p.A75V|HM13_ENST00000376127.3_Missense_Mutation_p.A75V	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	75					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGCCGGGATGCCGCCCGCTTC	0.502																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(223-225)gCc>gTc		histocompatibility (minor) 13							150.0	150.0	150.0					20																	30115327		2203	4300	6503	SO:0001583	missense	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30115327C>T	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.224C>T	20.37:g.30115327C>T	ENSP00000343032:p.Ala75Val					HM13_ENST00000340852.5_Missense_Mutation_p.A75V|HM13_ENST00000398174.3_Missense_Mutation_p.A75V|HM13_ENST00000376127.3_Missense_Mutation_p.A75V	p.A75V	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		2	348	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		75					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.224C>T	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286089	0.95517	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.80508	2.5	0.80722	D	1	P;D;D;D	0.69078	0.952;0.997;0.994;0.996	P;D;P;D	0.74348	0.71;0.919;0.885;0.983	T	0.61715	-0.7006	10	0.59425	D	0.04	-14.1589	18.5426	0.91035	0.0:1.0:0.0:0.0	.	75;75;75;75	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	V	75	ENSP00000335294:A75V;ENSP00000343032:A75V;ENSP00000381237:A75V;ENSP00000365296:A75V;ENSP00000341347:A75V	ENSP00000335294:A75V	A	+	2	0	HM13	29578988	1.000000	0.71417	0.486000	0.27416	0.990000	0.78478	6.741000	0.74837	2.719000	0.93026	0.555000	0.69702	GCC		0.502	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		4	163	0	0	0	1	0	4	163				
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17.0	21.0	20.0					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	50	0	0	0	1	0	5	50				
SETDB1	9869	broad.mit.edu	37	1	150936826	150936826	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:150936826G>C	ENST00000271640.5	+	22	4052	c.3862G>C	c.(3862-3864)Gga>Cga	p.G1288R	SETDB1_ENST00000368969.4_Missense_Mutation_p.G1287R|CERS2_ENST00000345896.4_5'Flank|CERS2_ENST00000561294.1_Silent_p.S367S|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1288	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAATGCAGAGGACGTCTTCT	0.522																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3862-3864)Gga>Cga		SET domain, bifurcated 1							166.0	128.0	141.0					1																	150936826		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936826G>C	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3862G>C	1.37:g.150936826G>C	ENSP00000271640:p.Gly1288Arg					CERS2_ENST00000561294.1_Silent_p.S367S|SETDB1_ENST00000368969.4_Missense_Mutation_p.G1287R	p.G1288R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	4052	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1288			Post-SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3862G>C	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615728	0.87359	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.91521	-2.86;-2.83	4.93	4.93	0.64822	Post-SET domain (2);	0.000000	0.85682	D	0.000000	D	0.95354	0.8492	M	0.85777	2.775	0.80722	D	1	P;D	0.89917	0.864;1.0	P;D	0.91635	0.502;0.999	D	0.95361	0.8455	10	0.59425	D	0.04	.	17.9225	0.88972	0.0:0.0:1.0:0.0	.	1287;1288	Q15047-3;Q15047	.;SETB1_HUMAN	R	1288;1287	ENSP00000271640:G1288R;ENSP00000357965:G1287R	ENSP00000271640:G1288R	G	+	1	0	SETDB1	149203450	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.424000	0.73366	2.565000	0.86533	0.462000	0.41574	GGA		0.522	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			6	23	0	0	0	1	0	6	23				
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL																																	ENST00000368395.1				Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(334-336)Acc>Ccc		mucin 1, cell surface associated																																				SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161799T>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.334A>C	1.37:g.155161799T>G	ENSP00000357380:p.Thr112Pro					MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron	p.T112P	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	405	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		892					A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.334A>C	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		0.711	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		8	19	0	0	0	1	0	8	19				
MYLK	4638	broad.mit.edu	37	3	123383037	123383037	+	Silent	SNP	C	C	T	rs563116446		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:123383037C>T	ENST00000475616.1	-	20	3899	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000360772.3_Silent_p.A1300A|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_Silent_p.A1231A|MYLK_ENST00000359169.1_Silent_p.A1300A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19042	0.0		0.001	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3898-3900)gcG>gcA		myosin light chain kinase							136.0	130.0	132.0					3																	123383037		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383037C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3900G>A	3.37:g.123383037C>T						MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000346322.5_Silent_p.A1231A	p.A1300A			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4278	-		Lung NSC(201;0.0496)	1300	A -> G (in Ref. 1; CAA59685).		Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3900G>A	CCDS46896.1																																																																																				0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		23	216	0	0	0	1	0	23	216				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	58	0	0	0	1	0	5	58				
PKD1	5310	broad.mit.edu	37	16	2142146	2142146	+	Silent	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr16:2142146C>T	ENST00000262304.4	-	40	11521	c.11313G>A	c.(11311-11313)tcG>tcA	p.S3771S	PKD1_ENST00000423118.1_Silent_p.S3770S|MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3771					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCCTGCGGCCGAGCACGTGT	0.647																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11311-11313)tcG>tcA		polycystic kidney disease 1 (autosomal dominant)							30.0	28.0	28.0					16																	2142146		2197	4298	6495	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2142146C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11313G>A	16.37:g.2142146C>T						RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3770S	p.S3771S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			40	11521	-			3771					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.11313G>A	CCDS32369.1																																																																																				0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	32	0	0	0	1	0	7	32				
SCN5A	6331	broad.mit.edu	37	3	38627374	38627374	+	Silent	SNP	G	G	A			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:38627374G>A	ENST00000333535.4	-	16	2744	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	SCN5A_ENST00000443581.1_Silent_p.Y865Y|SCN5A_ENST00000450102.2_Silent_p.Y865Y|SCN5A_ENST00000413689.1_Silent_p.Y865Y|SCN5A_ENST00000451551.2_Silent_p.Y865Y|SCN5A_ENST00000414099.2_Silent_p.Y865Y|SCN5A_ENST00000423572.2_Silent_p.Y865Y|SCN5A_ENST00000425664.1_Silent_p.Y865Y|SCN5A_ENST00000449557.2_Silent_p.Y865Y|SCN5A_ENST00000455624.2_Silent_p.Y865Y			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	865					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGCTCCGAGTAGTTCTTGC	0.562																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2593-2595)taC>taT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						172.0	167.0	168.0					3																	38627374		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38627374G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2595C>T	3.37:g.38627374G>A						SCN5A_ENST00000414099.2_Silent_p.Y865Y|SCN5A_ENST00000455624.2_Silent_p.Y865Y|SCN5A_ENST00000425664.1_Silent_p.Y865Y|SCN5A_ENST00000451551.2_Silent_p.Y865Y|SCN5A_ENST00000333535.4_Silent_p.Y865Y|SCN5A_ENST00000450102.2_Silent_p.Y865Y|SCN5A_ENST00000449557.2_Silent_p.Y865Y|SCN5A_ENST00000443581.1_Silent_p.Y865Y|SCN5A_ENST00000423572.2_Silent_p.Y865Y	p.Y865Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	2788	-	Medulloblastoma(35;0.163)		865					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2595C>T	CCDS46796.1																																																																																				0.562	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	127	0	0	0	1	0	9	127				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	51	0	0	0	1	0	5	51				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	60	0	0	0	1	0	5	60				
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A	rs548097837	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612													G|||	15	0.00299521	0.0023	0.0014	5008	,	,		13520	0.0		0.004	False		,,,				2504	0.0072					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q86Q(2)	lung(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(256-258)caG>caA		TATA box binding protein							14.0	20.0	18.0					6																	170871082		1927	3773	5700	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871082G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.258G>A	6.37:g.170871082G>A						TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	537	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	86			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.258G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	46	0	0	0	1	0	5	46				
CFAP70	118491	broad.mit.edu	37	10	75104854	75104854	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr10:75104854A>G	ENST00000310715.3	-	6	698	c.578T>C	c.(577-579)aTg>aCg	p.M193T	TTC18_ENST00000401621.2_Missense_Mutation_p.M193T|TTC18_ENST00000493787.1_5'UTR|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000394865.1_Missense_Mutation_p.M193T|TTC18_ENST00000340329.3_Missense_Mutation_p.M193T|TTC18_ENST00000355577.3_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		193						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGACCGACCATGTAGTTCTG	0.488																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(577-579)aTg>aCg		tetratricopeptide repeat domain 18							216.0	205.0	209.0					10																	75104854		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75104854A>G																												ENST00000310715.3:c.578T>C	10.37:g.75104854A>G	ENSP00000310829:p.Met193Thr					TTC18_ENST00000394865.1_Missense_Mutation_p.M193T|TTC18_ENST00000340329.3_Missense_Mutation_p.M193T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.M193T	p.M193T			Q5T0N1	TTC18_HUMAN			6	698	-	Prostate(51;0.0119)		193					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.578T>C	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362291	0.24684	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.61	5.61	0.85477	.	0.363185	0.35067	N	0.003480	T	0.23649	0.0572	L	0.41079	1.255	0.40112	D	0.976507	P;B	0.44195	0.828;0.02	B;B	0.41946	0.371;0.004	T	0.03443	-1.1036	10	0.24483	T	0.36	-25.1819	13.8047	0.63223	1.0:0.0:0.0:0.0	.	193;193	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	T	193	ENSP00000310829:M193T;ENSP00000384479:M193T;ENSP00000343650:M193T;ENSP00000378334:M193T	ENSP00000310829:M193T	M	-	2	0	TTC18	74774860	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.218000	0.65257	2.133000	0.65898	0.473000	0.43528	ATG		0.488	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				22	247	0	0	0	1	0	22	247				
CD200R1L	344807	broad.mit.edu	37	3	112546303	112546303	+	Missense_Mutation	SNP	G	G	A	rs199566328	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:112546303G>A	ENST00000398214.1	-	3	566	c.341C>T	c.(340-342)cCg>cTg	p.P114L	CD200R1L_ENST00000488794.1_Missense_Mutation_p.P93L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.P93L	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	114	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGTGTCCACCGGACGAATCTG	0.453													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19896	0.001		0.0	False		,,,				2504	0.0					ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(277-279)cCg>cTg		CD200 receptor 1-like		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	148.0	144.0	145.0		341,278	3.1	0.2	3		145	0,8600		0,0,4300	yes	missense,missense	CD200R1L	NM_001008784.2,NM_001199215.1	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	114/272,93/251	112546303	1,13005	2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546303G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.341C>T	3.37:g.112546303G>A	ENSP00000381272:p.Pro114Leu					CD200R1L_ENST00000398214.1_Missense_Mutation_p.P114L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.P93L	p.P93L			Q6Q8B3	MO2R2_HUMAN			5	867	-			114			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.278C>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214609	0.58452	2.27E-4	0.0	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.30448	1.53;1.53;1.53	3.99	3.08	0.35506	Immunoglobulin-like fold (1);	0.578559	0.17694	N	0.165145	T	0.37999	0.1024	L	0.55990	1.75	0.24729	N	0.993108	D	0.76494	0.999	P	0.53006	0.715	T	0.13710	-1.0499	10	0.54805	T	0.06	.	9.5327	0.39205	0.0:0.2154:0.7846:0.0	.	114	Q6Q8B3	MO2R2_HUMAN	L	114;93;93	ENSP00000381272:P114L;ENSP00000418413:P93L;ENSP00000415132:P93L	ENSP00000381272:P114L	P	-	2	0	CD200R1L	114028993	0.583000	0.26757	0.211000	0.23655	0.068000	0.16541	1.189000	0.32114	0.963000	0.38082	0.655000	0.94253	CCG		0.453	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		5	81	0	0	0	1	0	5	81				
SLCO4A1	28231	broad.mit.edu	37	20	61288286	61288286	+	Silent	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr20:61288286C>T	ENST00000370507.1	+	1	576	c.480C>T	c.(478-480)gtC>gtT	p.V160V	SLCO4A1_ENST00000217159.1_Silent_p.V160V			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	160					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)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCACCTTCGTCAGCTACTTCG	0.667																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(478-480)gtC>gtT		solute carrier organic anion transporter family, member 4A1							39.0	42.0	41.0					20																	61288286		2202	4297	6499	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288286C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.480C>T	20.37:g.61288286C>T						SLCO4A1_ENST00000370507.1_Silent_p.V160V	p.V160V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	685	+	Breast(26;3.65e-08)		160					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.480C>T	CCDS13501.1																																																																																				0.667	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		9	73	0	0	0	1	0	9	73				
SF3B1	23451	broad.mit.edu	37	2	198265579	198265579	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:198265579C>T	ENST00000335508.6	-	18	2669	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	860					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTCGGCTTCATCTTTCAGA	0.363			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2578-2580)Gaa>Aaa		splicing factor 3b, subunit 1, 155kDa							137.0	134.0	135.0					2																	198265579		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265579C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2578G>A	2.37:g.198265579C>T	ENSP00000335321:p.Glu860Lys						p.E860K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2669	-			860					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2578G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459891	0.84317	.	.	ENSG00000115524	ENST00000335508	T	0.65364	-0.15	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.89030	3	0.80722	D	1	D	0.58268	0.982	P	0.61477	0.889	D	0.83901	0.0290	10	0.62326	D	0.03	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	860	O75533	SF3B1_HUMAN	K	860	ENSP00000335321:E860K	ENSP00000335321:E860K	E	-	1	0	SF3B1	197973824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.885000	0.99019	0.655000	0.94253	GAA		0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			14	67	0	0	0	1	0	14	67				
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	rs575852588	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766														1798	0.359026	0.0673	0.5072	5008	,	,		10019	0.4792		0.4891	False		,,,				2504	0.3906					ENST00000310991.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(67-78)ctg>ct		transmembrane protein 52				61,649		27,7,321						0.9	1.0			2	719,1347		316,87,630	no	coding	TMEM52	NM_178545.3		343,94,951	A1A1,A1R,RR		34.8015,8.5915,28.098				780,1996				SO:0001651	inframe_deletion	339456					integral to membrane		g.chr1:1850628_1850636delAGCGGCAGG	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.69_77delCCTGCCGCT	1.37:g.1850637_1850645delAGCGGCAGG	ENSP00000311122:p.Leu23_Pro25del						p.LLPL23del	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	76_84	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	23					Q4VXS6|Q6UX25	In_Frame_Del	DEL	ENST00000310991.3	37	c.69_77delCCTGCCGCT	CCDS35.1																																																																																				0.766	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		2	4						2	4	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			5	9						5	9	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760915	92760916	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:92760915_92760916insT	ENST00000318238.4	-	5	5585_5586	c.4369_4370insA	c.(4369-4371)agafs	p.R1457fs	SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1457fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1457fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1457					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGAAGGATCTATTTAAGGAT	0.436																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4369-4371)atcfs		sterile alpha motif domain containing 9-like																																				SO:0001589	frameshift_variant	219285							g.chr7:92760915_92760916insT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4370dupA	7.37:g.92760916_92760916dupT	ENSP00000326247:p.Arg1457fs					SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.I1457fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.I1457fs	p.I1457fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5585_5586	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1457					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	ENST00000318238.4	37	c.4369_4370insA	CCDS34681.1																																																																																				0.436	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		9	173						9	173	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-	rs573221724	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:134618474_134618476delGGA	ENST00000361675.2	+	5	1183_1185	c.954_956delGGA	c.(952-957)agggag>agg	p.E321del	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000495522.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483														8	0.00159744	0.0	0.0029	5008	,	,		20620	0.0		0.006	False		,,,				2504	0.0					ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(952-957)agg>ag		caldesmon 1			,,,,	6,4242		0,6,2118					,,,,	2.6	0.0			118	69,8165		2,65,4050	no	intron,intron,intron,coding,intron	CALD1	NM_033157.3,NM_033140.3,NM_033139.3,NM_033138.3,NM_004342.6	,,,,	2,71,6168	A1A1,A1R,RR		0.838,0.1412,0.6009	,,,,	,,,,		75,12407				SO:0001651	inframe_deletion	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618474_134618476delGGA	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.954_956delGGA	7.37:g.134618477_134618479delGGA	ENSP00000354826:p.Glu321del					CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron	p.RE318del			Q05682	CALD1_HUMAN			5	1183_1185	+			318					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	In_Frame_Del	DEL	ENST00000361675.2	37	c.954_956delGGA	CCDS5835.1																																																																																				0.483	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		3	5						3	5	---	---	---	---
